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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)
Hect, E3 ligase catalytic domain0Direct
Putative DNA-binding domain0Direct
Rhodanese/Cell cycle control phosphatase0Direct
TK C-terminal domain-like0Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
Folate-binding domain0Direct
Methylglyoxal synthase-like0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
SNARE fusion complex0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
2Fe-2S ferredoxin-like0Direct
Lamin A/C globular tail domain0Direct
Troponin coil-coiled subunits0Direct
ADC-like0Direct
Hook domain0Direct
Cytochrome b5-like heme/steroid binding domain0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
Thiamin diphosphate-binding fold (THDP-binding)0Direct
Aminomethyltransferase beta-barrel domain0Direct
Rudiment single hybrid motif0Direct
Pseudouridine synthase0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
FKBP-like0Direct
Smc hinge domain0Direct
4Fe-4S ferredoxins0Direct
NTF2-like0Direct
Ribonuclease PH domain 2-like0Direct
Multidrug efflux transporter AcrB transmembrane domain0Direct
PP2C-like0Direct
S15/NS1 RNA-binding domain0Direct
CCCH zinc finger0Direct
GroEL equatorial domain-like0Direct
Actin depolymerizing proteins0Direct
Nucleotide-diphospho-sugar transferases0.00008334Direct
Nucleotidylyl transferase0.0006137Direct
Class II aaRS and biotin synthetases0.003733Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.01181Inherited
Voltage-gated potassium channels0.02802Inherited
Single hybrid motif0.02832Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.03883Inherited
Nicotinic receptor ligand binding domain-like0.03883Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.04195Inherited
Tropomyosin0.04297Inherited
Periplasmic binding protein-like I0.04904Inherited
Spectrin repeat0.09428Inherited
Actin-like ATPase domain0.09428Inherited
ARID-like0.09646Inherited
HMG-box0.116Inherited
Calponin-homology domain, CH-domain0.116Inherited
Ribosomal protein S5 domain 2-like0.1211Inherited
Translation proteins0.1625Inherited
Class II aaRS ABD-related0.165Inherited
Calcium-dependent phosphotriesterase0.2126Inherited
Myosin rod fragments0.2203Inherited
Kelch motif0.2469Inherited
HSP20-like chaperones0.3079Inherited
POZ domain0.3328Inherited
RNA-binding domain, RBD0.3773Inherited
MIR domain0.472Inherited
GLA-domain0.7255Inherited
FnI-like domain0.7564Inherited
vWA-like0.793Inherited
Trypsin-like serine proteases1Inherited
Intermediate filament protein, coiled coil region1Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
CCCH zinc finger0Direct
Proteasome subunits0Direct
a tRNA synthase domain0Direct
Amylase, catalytic domain0Direct
Myotubularin-like phosphatases0Direct
Double-stranded RNA-binding domain (dsRBD)0Direct
Ferredoxin domains from multidomain proteins0Direct
Filamin repeat (rod domain)0Direct
Protein serine/threonine phosphatase0Direct
Multidrug efflux transporter AcrB transmembrane domain0Direct
BC N-terminal domain-like0Direct
N-acetyl transferase, NAT0Direct
Serum paraoxonase/arylesterase 1, PON10Direct
alpha-Amylases, C-terminal beta-sheet domain0Direct
Lamin A/C globular tail domain0Direct
Glycosyl transferases group 10Direct
Cytochrome b50Direct
SNARE fusion complex0Direct
Phosphate binding protein-like0Direct
beta-glycanases0Direct
Troponin T0Direct
Association domain of calcium/calmodulin-dependent protein kinase type II alpha subunit, CAMK2A0Direct
PP2C-like0Direct
Smc hinge domain0Direct
Branched-chain alpha-keto acid dehydrogenase Pyr module0Direct
Choline/Carnitine O-acyltransferase0Direct
FKBP immunophilin/proline isomerase0Direct
Branched-chain alpha-keto acid dehydrogenase PP module0Direct
GABA-aminotransferase-like0Direct
Aminomethyltransferase beta-barrel domain0Direct
Hect, E3 ligase catalytic domain0Direct
Ribonuclease PH domain 1-like0Direct
C5 cytosine-specific DNA methylase, DCM0Direct
Ubiquitin carboxyl-terminal hydrolase, UCH0Direct
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
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
UBA domain0Direct
Ribonuclease PH domain 2-like0Direct
Anticodon-binding domain0Direct
DNA polymerase I0Direct
Aminomethyltransferase folate-binding domain0Direct
IF2B-like0Direct
BC ATP-binding domain-like0Direct
Class I aminoacyl-tRNA synthetases (RS), catalytic domain0.0001752Direct
Extended AAA-ATPase domain0.001226Inherited
G proteins0.001836Inherited
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.007017Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.0115Inherited
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain0.01862Inherited
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains0.01862Inherited
Biotinyl/lipoyl-carrier proteins and domains0.01862Inherited
Laminin-type module0.01877Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.02536Inherited
Nicotinic receptor ligand binding domain-like0.02536Inherited
Tropomyosin0.0295Inherited
Spectrin repeat0.06928Inherited
ValRS/IleRS/LeuRS editing domain0.0736Inherited
ARID domain0.0736Inherited
PHD domain0.08044Inherited
Calponin-homology domain, CH-domain0.08534Inherited
HMG-box0.08534Inherited
Elongation factors0.09083Inherited
DNA gyrase/MutL, second domain0.114Inherited
Clathrin adaptor core protein0.114Inherited
DNA gyrase/MutL, N-terminal domain0.114Inherited
Anticodon-binding domain of Class II aaRS0.1304Inherited
FHA domain0.179Inherited
Myosin rod fragments0.179Inherited
VWC domain0.1862Inherited
Kelch motif0.2002Inherited
LIM domain0.4022Inherited
MIR domain0.4208Inherited
Canonical RBD0.4622Inherited
GLA-domain0.6828Inherited
Integrin A (or I) domain0.7902Inherited
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)
Hook domain0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
Smc hinge domain0Direct
Troponin coil-coiled subunits0Direct
TK C-terminal domain-like0Direct
Multidrug efflux transporter AcrB transmembrane domain0Direct
Cytochrome b5-like heme/steroid binding domain0Direct
Pseudouridine synthase0Direct
S15/NS1 RNA-binding domain0Direct
Putative DNA-binding domain0Direct
PP2C-like0Direct
Rudiment single hybrid motif0Direct
Folate-binding domain0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
Hect, E3 ligase catalytic domain0Direct
SNARE fusion complex0Direct
Actin depolymerizing proteins0Direct
Lamin A/C globular tail domain0Direct
4Fe-4S ferredoxins0Direct
GroEL equatorial domain-like0Direct
Ribonuclease PH domain 2-like0Direct
2Fe-2S ferredoxin-like0Direct
Aminomethyltransferase beta-barrel domain0Direct
FKBP-like0Direct
Methylglyoxal synthase-like0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
Thiamin diphosphate-binding fold (THDP-binding)0Direct
ADC-like0Direct
CCCH zinc finger0Direct
NTF2-like0Direct
Rhodanese/Cell cycle control phosphatase0Direct
Nucleotide-diphospho-sugar transferases0.00003808Direct
Nucleotidylyl transferase0.0003145Direct
Class II aaRS and biotin synthetases0.002202Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.00769Inherited
ARM repeat0.008979Inherited
Voltage-gated potassium channels0.01956Inherited
Single hybrid motif0.01978Inherited
Nicotinic receptor ligand binding domain-like0.0279Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.0279Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.03025Inherited
Tropomyosin0.0311Inherited
Periplasmic binding protein-like I0.03604Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.0655Inherited
Spectrin repeat0.07362Inherited
Actin-like ATPase domain0.07362Inherited
ARID-like0.07556Inherited
ValRS/IleRS/LeuRS editing domain0.07556Inherited
Calponin-homology domain, CH-domain0.09201Inherited
HMG-box0.09201Inherited
Ribosomal protein S5 domain 2-like0.09654Inherited
Translation proteins0.1332Inherited
Class II aaRS ABD-related0.1354Inherited
Calcium-dependent phosphotriesterase0.1788Inherited
Myosin rod fragments0.1859Inherited
Kelch motif0.2104Inherited
HSP20-like chaperones0.2677Inherited
POZ domain0.2915Inherited
RING/U-box0.3234Inherited
RNA-binding domain, RBD0.3344Inherited
MIR domain0.4282Inherited
Glucocorticoid receptor-like (DNA-binding domain)0.635Inherited
GLA-domain0.6871Inherited
FnI-like domain0.7195Inherited
vWA-like0.7574Inherited
Intermediate filament protein, coiled coil region0.993Inherited
DEATH domain0.9938Inherited
Trypsin-like serine proteases1Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
53098,56672
  • 53098 - Ribonuclease H-like
  • 56672 - DNA/RNA polymerases
  • 0Direct
    50249,55681
  • 50249 - Nucleic acid-binding proteins
  • 55681 - Class II aaRS and biotin synthetases
  • 0Direct
    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
    103025,101790
  • 103025 - Folate-binding domain
  • 101790 - Aminomethyltransferase beta-barrel domain
  • 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
    49265,48726
  • 49265 - Fibronectin type III
  • 48726 - Immunoglobulin
  • 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
    57850,57845
  • 57850 - RING/U-box
  • 57845 - B-box zinc-binding domain
  • 0Direct
    54768,54768
  • 54768 - dsRNA-binding domain-like
  • 54768 - dsRNA-binding domain-like
  • 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
    53822,53850
  • 53822 - Periplasmic binding protein-like I
  • 53850 - Periplasmic binding protein-like II
  • 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
    54928,54928
  • 54928 - RNA-binding domain, RBD
  • 54928 - RNA-binding domain, RBD
  • 0.01978Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.0279Inherited
    49899,57196
  • 49899 - Concanavalin A-like lectins/glucanases
  • 57196 - EGF/Laminin
  • 0.04867Inherited
    46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.05123Inherited
    50677,52374
  • 50677 - ValRS/IleRS/LeuRS editing domain
  • 52374 - Nucleotidylyl transferase
  • 0.07556Inherited
    52540,50447
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 0.0947Inherited
    55874,54211
  • 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0.1173Inherited
    57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.2455Inherited
    81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.2677Inherited
    48371,48371
  • 48371 - ARM repeat
  • 48371 - ARM repeat
  • 0.2957Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.3694Inherited
    50729,50729
  • 50729 - PH domain-like
  • 50729 - PH domain-like
  • 0.4282Inherited
    57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.5271Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    48726,49265,48726
  • 48726 - Immunoglobulin
  • 49265 - Fibronectin type III
  • 48726 - Immunoglobulin
  • 0Direct
    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
    46966,46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.02033Inherited
    57716,57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.1354Inherited
    81296,81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.2677Inherited


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