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Phenotypic Abnormality (PA): Abnormality of the musculature

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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)
+ 1:   Phenotypic abnormality [HP:0000118] <25>
0:   Abnormality of the musculature [HP:0003011] <3>(64|83) (70|33|9)
- 1:   Abnormal skeletal muscle morphology [HP:0011805] <38>(30|36) (35|14|4)
- 1:   Abnormal muscle physiology [HP:0011804] <12>(44|59) (51|22|5)
- 1:   Neoplasm of striated muscle [HP:0009728] <2>(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
Multidrug efflux transporter AcrB transmembrane domain0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
SNARE fusion complex0Direct
PP2C-like0Direct
S15/NS1 RNA-binding domain0Direct
Smc hinge domain0Direct
GroEL equatorial domain-like0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
Folate-binding domain0Direct
Hook domain0Direct
CCCH zinc finger0Direct
Thiamin diphosphate-binding fold (THDP-binding)0Direct
Pseudouridine synthase0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
Ribonuclease PH domain 2-like0Direct
TK C-terminal domain-like0Direct
Troponin coil-coiled subunits0Direct
Lamin A/C globular tail domain0Direct
FKBP-like0Direct
Methylglyoxal synthase-like0Direct
NTF2-like0Direct
Hect, E3 ligase catalytic domain0Direct
2Fe-2S ferredoxin-like0Direct
Aminomethyltransferase beta-barrel domain0Direct
Rhodanese/Cell cycle control phosphatase0Direct
Actin depolymerizing proteins0Direct
4Fe-4S ferredoxins0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
Rudiment single hybrid motif0Direct
Cytochrome b5-like heme/steroid binding domain0Direct
Putative DNA-binding domain0Direct
ADC-like0Direct
Nucleotide-diphospho-sugar transferases0.00008384Direct
Nucleotidylyl transferase0.0006166Direct
Class II aaRS and biotin synthetases0.003748Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.01183Inherited
Voltage-gated potassium channels0.02814Inherited
Single hybrid motif0.02835Inherited
Nicotinic receptor ligand binding domain-like0.03891Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.03891Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.042Inherited
Tropomyosin0.04301Inherited
Periplasmic binding protein-like I0.04908Inherited
Actin-like ATPase domain0.09443Inherited
Spectrin repeat0.09443Inherited
ARID-like0.09657Inherited
Calponin-homology domain, CH-domain0.1162Inherited
HMG-box0.1162Inherited
Ribosomal protein S5 domain 2-like0.1213Inherited
Translation proteins0.1627Inherited
Class II aaRS ABD-related0.1652Inherited
Calcium-dependent phosphotriesterase0.2127Inherited
Myosin rod fragments0.2205Inherited
Kelch motif0.2471Inherited
HSP20-like chaperones0.3081Inherited
POZ domain0.3334Inherited
RNA-binding domain, RBD0.3778Inherited
MIR domain0.4723Inherited
GLA-domain0.7258Inherited
FnI-like domain0.7565Inherited
vWA-like0.7932Inherited
Trypsin-like serine proteases1Inherited
Intermediate filament protein, coiled coil region1Inherited


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Family

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SCOP termFDR (all)Annotation (direct or inherited)
Branched-chain alpha-keto acid dehydrogenase PP module0Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
alpha-Amylases, C-terminal beta-sheet domain0Direct
Hect, E3 ligase catalytic domain0Direct
Choline/Carnitine O-acyltransferase0Direct
Filamin repeat (rod domain)0Direct
BC C-terminal domain-like0Direct
Protein serine/threonine phosphatase0Direct
Multidrug efflux transporter AcrB transmembrane domain0Direct
Anticodon-binding domain0Direct
a tRNA synthase domain0Direct
DNA polymerase I0Direct
Inositol polyphosphate 5-phosphatase (IPP5)0Direct
Ribonuclease PH domain 1-like0Direct
IF2B-like0Direct
Exostosin0Direct
Cytochrome b50Direct
Ubiquitin carboxyl-terminal hydrolase, UCH0Direct
UBA domain0Direct
FKBP immunophilin/proline isomerase0Direct
C5 cytosine-specific DNA methylase, DCM0Direct
Histone lysine methyltransferases0Direct
Branched-chain alpha-keto acid dehydrogenase beta-subunit, C-terminal-domain0Direct
Myotubularin-like phosphatases0Direct
N-acetyl transferase, NAT0Direct
Ferredoxin domains from multidomain proteins0Direct
Serum paraoxonase/arylesterase 1, PON10Direct
BC ATP-binding domain-like0Direct
Ribonuclease PH domain 2-like0Direct
PP2C-like0Direct
GABA-aminotransferase-like0Direct
SNARE fusion complex0Direct
Double-stranded RNA-binding domain (dsRBD)0Direct
Smc hinge domain0Direct
Troponin T0Direct
Aminomethyltransferase beta-barrel domain0Direct
Biotin dependent carboxylase carboxyltransferase domain0Direct
BC N-terminal domain-like0Direct
Association domain of calcium/calmodulin-dependent protein kinase type II alpha subunit, CAMK2A0Direct
Amylase, catalytic domain0Direct
Lamin A/C globular tail domain0Direct
beta-glycanases0Direct
Phosphate binding protein-like0Direct
Aminomethyltransferase folate-binding domain0Direct
Branched-chain alpha-keto acid dehydrogenase Pyr module0Direct
Glycosyl transferases group 10Direct
Proteasome subunits0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
CCCH zinc finger0Direct
Class I aminoacyl-tRNA synthetases (RS), catalytic domain0.0001759Direct
Extended AAA-ATPase domain0.00123Inherited
G proteins0.001849Inherited
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.007039Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.01152Inherited
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain0.01864Inherited
Biotinyl/lipoyl-carrier proteins and domains0.01864Inherited
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains0.01864Inherited
Laminin-type module0.01881Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.02542Inherited
Nicotinic receptor ligand binding domain-like0.02542Inherited
Tropomyosin0.02955Inherited
Spectrin repeat0.06938Inherited
ARID domain0.07365Inherited
ValRS/IleRS/LeuRS editing domain0.07365Inherited
PHD domain0.0806Inherited
HMG-box0.08555Inherited
Calponin-homology domain, CH-domain0.08555Inherited
Elongation factors0.09095Inherited
DNA gyrase/MutL, N-terminal domain0.1141Inherited
DNA gyrase/MutL, second domain0.1141Inherited
Clathrin adaptor core protein0.1141Inherited
Anticodon-binding domain of Class II aaRS0.1306Inherited
FHA domain0.1793Inherited
Myosin rod fragments0.1793Inherited
VWC domain0.1864Inherited
Kelch motif0.2005Inherited
LIM domain0.4027Inherited
MIR domain0.4211Inherited
Canonical RBD0.463Inherited
GLA-domain0.6833Inherited
Integrin A (or I) domain0.7907Inherited
Eukaryotic proteases1Inherited
Intermediate filament protein, coiled coil region1Inherited


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)
Cytochrome b5-like heme/steroid binding domain0Direct
4Fe-4S ferredoxins0Direct
Rudiment single hybrid motif0Direct
Actin depolymerizing proteins0Direct
S15/NS1 RNA-binding domain0Direct
PP2C-like0Direct
Pseudouridine synthase0Direct
Smc hinge domain0Direct
Troponin coil-coiled subunits0Direct
Lamin A/C globular tail domain0Direct
SNARE fusion complex0Direct
FKBP-like0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
Ribonuclease PH domain 2-like0Direct
Putative DNA-binding domain0Direct
GroEL equatorial domain-like0Direct
2Fe-2S ferredoxin-like0Direct
Hook domain0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
Multidrug efflux transporter AcrB transmembrane domain0Direct
CCCH zinc finger0Direct
NTF2-like0Direct
Methylglyoxal synthase-like0Direct
Rhodanese/Cell cycle control phosphatase0Direct
Folate-binding domain0Direct
ADC-like0Direct
TK C-terminal domain-like0Direct
Aminomethyltransferase beta-barrel domain0Direct
Thiamin diphosphate-binding fold (THDP-binding)0Direct
Hect, E3 ligase catalytic domain0Direct
Nucleotide-diphospho-sugar transferases0.0000384Direct
Nucleotidylyl transferase0.0003167Direct
Class II aaRS and biotin synthetases0.002215Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.007714Inherited
ARM repeat0.009054Inherited
Voltage-gated potassium channels0.01968Inherited
Single hybrid motif0.01981Inherited
Nicotinic receptor ligand binding domain-like0.02798Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.02798Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.03032Inherited
Tropomyosin0.03116Inherited
Periplasmic binding protein-like I0.03612Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.06564Inherited
Actin-like ATPase domain0.07379Inherited
Spectrin repeat0.07379Inherited
ARID-like0.07567Inherited
ValRS/IleRS/LeuRS editing domain0.07567Inherited
HMG-box0.09222Inherited
Calponin-homology domain, CH-domain0.09222Inherited
Ribosomal protein S5 domain 2-like0.09677Inherited
Translation proteins0.1334Inherited
Class II aaRS ABD-related0.1356Inherited
Calcium-dependent phosphotriesterase0.179Inherited
Myosin rod fragments0.1862Inherited
Kelch motif0.2107Inherited
HSP20-like chaperones0.2679Inherited
POZ domain0.2921Inherited
RING/U-box0.324Inherited
RNA-binding domain, RBD0.335Inherited
MIR domain0.4285Inherited
Glucocorticoid receptor-like (DNA-binding domain)0.6357Inherited
GLA-domain0.6875Inherited
FnI-like domain0.7197Inherited
vWA-like0.7578Inherited
Intermediate filament protein, coiled coil region0.993Inherited
DEATH domain0.9939Inherited
Trypsin-like serine proteases1Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
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
    49265,48726
  • 49265 - Fibronectin type III
  • 48726 - Immunoglobulin
  • 0Direct
    54211,55666
  • 54211 - Ribosomal protein S5 domain 2-like
  • 55666 - Ribonuclease PH domain 2-like
  • 0Direct
    50249,55681
  • 50249 - Nucleic acid-binding proteins
  • 55681 - Class II aaRS and biotin synthetases
  • 0Direct
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0Direct
    57850,57845
  • 57850 - RING/U-box
  • 57845 - B-box zinc-binding domain
  • 0Direct
    47005,52777
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    103025,101790
  • 103025 - Folate-binding domain
  • 101790 - Aminomethyltransferase beta-barrel domain
  • 0Direct
    53822,53850
  • 53822 - Periplasmic binding protein-like I
  • 53850 - Periplasmic binding protein-like II
  • 0Direct
    50447,54980
  • 50447 - Translation proteins
  • 54980 - EF-G C-terminal domain-like
  • 0Direct
    56059,51246
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 51246 - Rudiment single hybrid motif
  • 0Direct
    47060,55681
  • 47060 - S15/NS1 RNA-binding domain
  • 55681 - Class II aaRS and biotin synthetases
  • 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
    51905,55424
  • 51905 - FAD/NAD(P)-binding domain
  • 55424 - FAD/NAD-linked reductases, dimerisation (C-terminal) domain
  • 0Direct
    54928,90209
  • 54928 - RNA-binding domain, RBD
  • 90209 - Ran binding protein zinc finger-like
  • 0Direct
    53098,56672
  • 53098 - Ribonuclease H-like
  • 56672 - DNA/RNA polymerases
  • 0Direct
    54768,54768
  • 54768 - dsRNA-binding domain-like
  • 54768 - dsRNA-binding domain-like
  • 0Direct
    52518,52518
  • 52518 - Thiamin diphosphate-binding fold (THDP-binding)
  • 52518 - Thiamin diphosphate-binding fold (THDP-binding)
  • 0Direct
    54928,54928
  • 54928 - RNA-binding domain, RBD
  • 54928 - RNA-binding domain, RBD
  • 0.01981Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.02798Inherited
    49899,57196
  • 49899 - Concanavalin A-like lectins/glucanases
  • 57196 - EGF/Laminin
  • 0.04876Inherited
    46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.05134Inherited
    50677,52374
  • 50677 - ValRS/IleRS/LeuRS editing domain
  • 52374 - Nucleotidylyl transferase
  • 0.07567Inherited
    52540,50447
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 0.09484Inherited
    55874,54211
  • 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0.1174Inherited
    57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.2461Inherited
    81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.2679Inherited
    48371,48371
  • 48371 - ARM repeat
  • 48371 - ARM repeat
  • 0.296Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.3696Inherited
    50729,50729
  • 50729 - PH domain-like
  • 50729 - PH domain-like
  • 0.4285Inherited
    57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.5275Inherited

    (show details)
    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
    52540,50447,54980
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 54980 - EF-G C-terminal domain-like
  • 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
    48726,49265,48726
  • 48726 - Immunoglobulin
  • 49265 - Fibronectin type III
  • 48726 - Immunoglobulin
  • 0Direct
    46966,46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.02039Inherited
    57716,57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.1356Inherited
    81296,81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.2679Inherited


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