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Phenotypic Abnormality (PA): Abnormality of serum amino acid level

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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)
+ + + + 4:   Phenotypic abnormality [HP:0000118] <25>
+ + + 3:   Abnormality of metabolism/homeostasis [HP:0001939] <16>(76|83) (79|38|16)
+ + 2:   Abnormal circulating metabolite concentration [HP:0032180] <12>(29|32) (30|14|4)
+ 1:   Abnormal circulating carboxylic acid concentration [HP:0004354] <6>(9|7) (9|4|1)
0:   Abnormality of serum amino acid level [HP:0003112] <17>(8|6) (8|3|1)
- 1:   Abnormal circulating aspartate family amino acid concentration [HP:0010899] <6>(0|0) (0|0|0)
- 1:   Abnormal circulating branched chain amino acid concentration [HP:0010892] <4>(0|0) (0|0|0)
- 1:   Abnormal circulating glutamine family amino acid concentration [HP:0010902] <4>(0|0) (0|0|0)
- 1:   Abnormal circulating sulfur amino acid concentration [HP:0004339] <4>(0|0) (0|0|0)
- 1:   Abnormal circulating aromatic amino acid concentration [HP:0004338] <3>(0|0) (0|0|0)
- 1:   Abnormal circulating serine family amino acid concentration [HP:0010894] <3>(0|0) (0|0|0)
- 1:   Abnormal circulating carnosine concentration [HP:0500160] <2>(0|0) (0|0|0)
- 1:   Abnormal circulating citrulline concentration [HP:0011965] <2>(0|0) (0|0|0)
- 1:   Abnormal circulating histidine concentration [HP:0010904] <2>(0|0) (0|0|0)
- 1:   Abnormal circulating ornithine concentration [HP:0012025] <2>(0|0) (0|0|0)
- 1:   Abnormal circulating ethanolamine concentration [HP:0500249] <1>(0|0) (0|0|0)
- 1:   Abnormal circulating pyruvate family amino acid concentration [HP:0010915] <1>(0|0) (0|0|0)
- 1:   Decreased level of GABA in serum [HP:0410054](0|0) (0|0|0)
- 1:   Elevated N,N-dimethylglycine level [HP:0031945](0|0) (0|0|0)
- 1:   Hyperbetaalaninemia [HP:0012556](0|0) (0|0|0)
- 1:   Increased circulating argininosuccinic acid [HP:0032491](0|0) (0|0|0)
- 1:   Increased level of GABA in serum [HP:0410053](0|0) (0|0|0)


Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]

Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
Aminomethyltransferase beta-barrel domain0Direct
Single hybrid motif0.00000001479Direct
Folate-binding domain0.00001717Direct
Rudiment single hybrid motif0.00001717Direct
PreATP-grasp domain0.00004919Direct
PLP-dependent transferases0.0001449Direct
Formate/glycerate dehydrogenase catalytic domain-like0.0001949Direct
Thiamin diphosphate-binding fold (THDP-binding)0.0004Direct


Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]

Family

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SCOP termFDR (all)Annotation (direct or inherited)
Aminomethyltransferase beta-barrel domain0Direct
Biotinyl/lipoyl-carrier proteins and domains0.00000001536Direct
BC ATP-binding domain-like0.000002535Direct
BC N-terminal domain-like0.000002535Direct
BC C-terminal domain-like0.0000134Direct
Aminomethyltransferase folate-binding domain0.0000134Direct


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)
Aminomethyltransferase beta-barrel domain0Direct
Single hybrid motif0.000000005991Direct
Folate-binding domain0.000007759Direct
Rudiment single hybrid motif0.000007759Direct
PreATP-grasp domain0.00002298Direct
PLP-dependent transferases0.00007061Direct
Formate/glycerate dehydrogenase catalytic domain-like0.00009653Direct
Thiamin diphosphate-binding fold (THDP-binding)0.0002059Direct

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Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
103025,101790
  • 103025 - Folate-binding domain
  • 101790 - Aminomethyltransferase beta-barrel domain
  • 0Direct
    56059,51246
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 51246 - Rudiment single hybrid motif
  • 0.000007759Direct
    52440,56059
  • 52440 - PreATP-grasp domain
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 0.00001084Direct

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    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    52440,56059,51246
  • 52440 - PreATP-grasp domain
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 51246 - Rudiment single hybrid motif
  • 0.000007759Direct


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