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Phenotypic Abnormality (PA): Abnormal muscle tone

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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 the musculature [HP:0003011] <3>(64|83) (70|33|9)
+ 1:   Abnormal muscle physiology [HP:0011804] <12>(44|59) (51|22|5)
0:   Abnormal muscle tone [HP:0003808] <3>(23|37) (27|15|5)
- 1:   Muscular hypotonia [HP:0001252] <9>(15|27) (18|9|4)
- 1:   Hypertonia [HP:0001276] <3>(4|9) (5|5|2)
- 1:   Central hypotonia [HP:0011398](0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
Hect, E3 ligase catalytic domain0Direct
Putative DNA-binding domain0Direct
Rhodanese/Cell cycle control phosphatase0Direct
TK C-terminal domain-like0Direct
Methylglyoxal synthase-like0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
ADC-like0Direct
Cytochrome b5-like heme/steroid binding domain0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
Thiamin diphosphate-binding fold (THDP-binding)0Direct
Rudiment single hybrid motif0Direct
Pseudouridine synthase0Direct
4Fe-4S ferredoxins0Direct
NTF2-like0Direct
Ribonuclease PH domain 2-like0Direct
PP2C-like0Direct
CCCH zinc finger0Direct
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.0006906Direct
Periplasmic binding protein-like I0.003143Inherited
Single hybrid motif0.003153Inherited
Translation proteins0.02353Inherited
MIR domain0.2138Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
CCCH zinc finger0Direct
Ferredoxin domains from multidomain proteins0Direct
Protein serine/threonine phosphatase0Direct
BC N-terminal domain-like0Direct
N-acetyl transferase, NAT0Direct
Serum paraoxonase/arylesterase 1, PON10Direct
Glycosyl transferases group 10Direct
Cytochrome b50Direct
beta-glycanases0Direct
Association domain of calcium/calmodulin-dependent protein kinase type II alpha subunit, CAMK2A0Direct
PP2C-like0Direct
Branched-chain alpha-keto acid dehydrogenase Pyr module0Direct
Choline/Carnitine O-acyltransferase0Direct
Branched-chain alpha-keto acid dehydrogenase PP module0Direct
Hect, E3 ligase catalytic domain0Direct
Ribonuclease PH domain 1-like0Direct
Biotin dependent carboxylase carboxyltransferase domain0Direct
Exostosin0Direct
Histone lysine methyltransferases0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Inositol polyphosphate 5-phosphatase (IPP5)0Direct
Branched-chain alpha-keto acid dehydrogenase beta-subunit, C-terminal-domain0Direct
BC C-terminal domain-like0Direct
UBA domain0Direct
Ribonuclease PH domain 2-like0Direct
IF2B-like0Direct
BC ATP-binding domain-like0Direct
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.0006793Direct
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain0.00153Inherited
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains0.00153Inherited
Biotinyl/lipoyl-carrier proteins and domains0.00153Inherited
PHD domain0.002198Inherited
Elongation factors0.01417Inherited
ValRS/IleRS/LeuRS editing domain0.01599Inherited
Extended AAA-ATPase domain0.1218Inherited
MIR domain0.1683Inherited
Phosphate binding protein-like0.2812Inherited


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)
Acyl-CoA N-acyltransferases (Nat)0Direct
TK C-terminal domain-like0Direct
Cytochrome b5-like heme/steroid binding domain0Direct
Pseudouridine synthase0Direct
Putative DNA-binding domain0Direct
PP2C-like0Direct
Rudiment single hybrid motif0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
Hect, E3 ligase catalytic domain0Direct
4Fe-4S ferredoxins0Direct
Ribonuclease PH domain 2-like0Direct
Methylglyoxal synthase-like0Direct
Thiamin diphosphate-binding fold (THDP-binding)0Direct
ADC-like0Direct
CCCH zinc finger0Direct
NTF2-like0Direct
Rhodanese/Cell cycle control phosphatase0Direct
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.0003559Direct
Periplasmic binding protein-like I0.001826Inherited
Single hybrid motif0.001833Inherited
Translation proteins0.01623Inherited
ValRS/IleRS/LeuRS editing domain0.01786Inherited
MIR domain0.1799Inherited
ARM repeat0.2271Inherited
Class II aaRS and biotin synthetases0.4472Inherited
RING/U-box0.6025Inherited

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Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
56059,51246
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 51246 - Rudiment single hybrid motif
  • 0Direct
    47005,52777
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0Direct
    50447,54980
  • 50447 - Translation proteins
  • 54980 - EF-G C-terminal domain-like
  • 0Direct
    50447,50465
  • 50447 - Translation proteins
  • 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain
  • 0Direct
    51230,47005
  • 51230 - Single hybrid motif
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 0Direct
    54211,55666
  • 54211 - Ribosomal protein S5 domain 2-like
  • 55666 - Ribonuclease PH domain 2-like
  • 0Direct
    52518,52518
  • 52518 - Thiamin diphosphate-binding fold (THDP-binding)
  • 52518 - Thiamin diphosphate-binding fold (THDP-binding)
  • 0Direct
    54928,90209
  • 54928 - RNA-binding domain, RBD
  • 90209 - Ran binding protein zinc finger-like
  • 0Direct
    53822,53850
  • 53822 - Periplasmic binding protein-like I
  • 53850 - Periplasmic binding protein-like II
  • 0Direct
    52518,52922
  • 52518 - Thiamin diphosphate-binding fold (THDP-binding)
  • 52922 - TK C-terminal domain-like
  • 0Direct
    52777,52777
  • 52777 - CoA-dependent acyltransferases
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    52540,50447
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 0.01641Inherited
    50677,52374
  • 50677 - ValRS/IleRS/LeuRS editing domain
  • 52374 - Nucleotidylyl transferase
  • 0.01786Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.1694Inherited

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    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    52540,50447,50465
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain
  • 0Direct
    52440,56059,51246
  • 52440 - PreATP-grasp domain
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 51246 - Rudiment single hybrid motif
  • 0Direct
    51230,47005,52777
  • 51230 - Single hybrid motif
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    49899,49899,57196
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 57196 - EGF/Laminin
  • 0Direct
    52540,50447,54980
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 54980 - EF-G C-terminal domain-like
  • 0Direct


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