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Phenotypic Abnormality (PA): Abnormal skeletal muscle morphology

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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 the musculature [HP:0003011] <3>(62|74) (69|31|7)
0:   Abnormal skeletal muscle morphology [HP:0011805] <38>(30|34) (32|13|3)
- 1:   Abnormal muscle fiber morphology [HP:0004303] <25>(6|5) (6|2|0)
- 1:   Abnormality of facial musculature [HP:0000301] <12>(4|3) (4|3|0)
- 1:   Abnormality of the musculature of the limbs [HP:0009127] <10>(12|8) (14|4|2)
- 1:   Flexion contracture [HP:0001371] <9>(7|10) (7|7|1)
- 1:   Abnormality of the extraocular muscles [HP:0008049] <8>(0|0) (0|0|0)
- 1:   Myopathy [HP:0003198] <6>(0|1) (0|1|1)
- 1:   Abnormal morphology of the musculature of the neck [HP:0011006] <5>(1|1) (1|1|0)
- 1:   Abnormality of musculature of soft palate [HP:0430014] <5>(0|0) (0|0|0)
- 1:   Abnormality of the diaphragm [HP:0000775] <5>(2|3) (2|1|0)
- 1:   Rhabdomyolysis [HP:0003201] <5>(0|0) (0|0|0)
- 1:   Muscular dystrophy [HP:0003560] <4>(3|3) (4|2|1)
- 1:   Abnormal morphology of the pelvis musculature [HP:0001469] <3>(0|0) (0|0|0)
- 1:   Abnormality of muscle size [HP:0030236] <3>(6|6) (6|3|0)
- 1:   Abnormality of the musculature of the thorax [HP:0009131] <3>(0|0) (0|0|0)
- 1:   Abnormal axial muscle morphology [HP:0040286] <2>(0|0) (0|0|0)
- 1:   Abnormal morphology of the abdominal musculature [HP:0010991] <2>(1|1) (1|0|0)
- 1:   Abnormality of the tongue muscle [HP:0040173] <2>(0|0) (0|0|0)
- 1:   Abnormal morphology of musculature of pharynx [HP:0430015] <1>(0|0) (0|0|0)
- 1:   Abnormal hyoglossus muscle morphology [HP:3000051](0|0) (0|0|0)
- 1:   Abnormal lateral cricoarytenoid muscle morphology [HP:3000067](0|0) (0|0|0)
- 1:   Abnormal mitochondria in muscle tissue [HP:0008316](0|0) (0|0|0)
- 1:   Abnormal morphology of the chest musculature [HP:0410167](0|0) (0|0|0)
- 1:   Abnormal morphology of the shoulder musculature [HP:0410169](0|0) (0|0|0)
- 1:   Abnormality of the back musculature [HP:0410168](0|0) (0|0|0)
- 1:   Calcification of muscles [HP:0100249](0|0) (0|0|0)
- 1:   Calcinosis [HP:0003761](0|0) (0|0|0)
- 1:   Decreased muscle mass [HP:0003199](0|0) (0|0|0)
- 1:   Fatty replacement of skeletal muscle [HP:0012548](0|0) (0|0|0)
- 1:   Firm muscles [HP:0003725](0|0) (0|0|0)
- 1:   Generalized muscular appearance from birth [HP:0003716](0|0) (0|0|0)
- 1:   Increased intramuscular fat [HP:0008985](0|0) (0|0|0)
- 1:   Intramuscular hematoma [HP:0012233](2|2) (2|0|0)
- 1:   Muscle eosinophilia [HP:0032019](0|0) (0|0|0)
- 1:   Muscle haemorrhage [HP:0040242](0|0) (0|0|0)
- 1:   Muscular edema [HP:0100748](0|0) (0|0|0)
- 1:   Myositis [HP:0100614](0|0) (1|0|0)
- 1:   Skeletal muscle fibrosis [HP:0030951](0|0) (0|0|0)
- 1:   Skeletal muscle steatosis [HP:0040291](0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
Smc hinge domain0Direct
GroEL equatorial domain-like0Direct
Troponin coil-coiled subunits0Direct
ADC-like0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
Ribonuclease PH domain 2-like0Direct
2Fe-2S ferredoxin-like0Direct
Tropomyosin0.002761Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.005327Inherited
Myosin rod fragments0.02779Inherited
Actin-like ATPase domain0.03836Inherited
Calponin-homology domain, CH-domain0.05146Inherited
Kelch motif0.05211Inherited
HSP20-like chaperones0.08142Inherited
POZ domain0.1257Inherited
RNA-binding domain, RBD0.1511Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.1837Inherited
ARID-like0.2335Inherited
S15/NS1 RNA-binding domain0.312Inherited
GLA-domain0.3435Inherited
MIR domain0.3435Inherited
FnI-like domain0.3858Inherited
Nucleotide-diphospho-sugar transferases0.4605Inherited
Spectrin repeat0.4686Inherited
vWA-like0.5124Inherited
Nicotinic receptor ligand binding domain-like0.8116Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.8116Inherited
ARM repeat0.82Inherited
HMG-box0.8651Inherited
Trypsin-like serine proteases1Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
beta-glycanases0Direct
Myotubularin-like phosphatases0Direct
Proteasome subunits0Direct
Biotin dependent carboxylase carboxyltransferase domain0Direct
UBA domain0Direct
Troponin T0Direct
Smc hinge domain0Direct
Filamin repeat (rod domain)0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
Ribonuclease PH domain 1-like0Direct
Ribonuclease PH domain 2-like0Direct
Serum paraoxonase/arylesterase 1, PON10Direct
Tropomyosin0.001534Inherited
Myosin rod fragments0.01861Inherited
FHA domain0.01861Inherited
DNA gyrase/MutL, second domain0.02104Inherited
DNA gyrase/MutL, N-terminal domain0.02104Inherited
Calponin-homology domain, CH-domain0.03907Inherited
Kelch motif0.03964Inherited
Laminin-type module0.1191Inherited
LIM domain0.1558Inherited
VWC domain0.2006Inherited
ARID domain0.2006Inherited
Integrin A (or I) domain0.2183Inherited
Canonical RBD0.2202Inherited
a tRNA synthase domain0.2755Inherited
MIR domain0.2983Inherited
GLA-domain0.2983Inherited
Spectrin repeat0.4292Inherited
PHD domain0.7261Inherited
Nicotinic receptor ligand binding domain-like0.7872Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.7872Inherited
HMG-box0.844Inherited
Eukaryotic proteases0.9952Inherited


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)
Troponin coil-coiled subunits0Direct
GroEL equatorial domain-like0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
ADC-like0Direct
Smc hinge domain0Direct
2Fe-2S ferredoxin-like0Direct
Ribonuclease PH domain 2-like0Direct
Tropomyosin0.001617Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.003309Inherited
Myosin rod fragments0.01951Inherited
Actin-like ATPase domain0.02777Inherited
Calponin-homology domain, CH-domain0.0384Inherited
Kelch motif0.0389Inherited
HSP20-like chaperones0.0632Inherited
POZ domain0.1013Inherited
RNA-binding domain, RBD0.124Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.1531Inherited
ARID-like0.1988Inherited
S15/NS1 RNA-binding domain0.2732Inherited
MIR domain0.3031Inherited
GLA-domain0.3031Inherited
FnI-like domain0.3441Inherited
Nucleotide-diphospho-sugar transferases0.4175Inherited
Spectrin repeat0.4254Inherited
Glucocorticoid receptor-like (DNA-binding domain)0.4587Inherited
vWA-like0.469Inherited
Nicotinic receptor ligand binding domain-like0.778Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.778Inherited
ARM repeat0.7869Inherited
HMG-box0.8336Inherited
DEATH domain0.9777Inherited
Trypsin-like serine proteases0.9879Inherited

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Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
54211,55666
  • 54211 - Ribosomal protein S5 domain 2-like
  • 55666 - Ribonuclease PH domain 2-like
  • 0Direct
    49265,48726
  • 49265 - Fibronectin type III
  • 48726 - Immunoglobulin
  • 0Direct
    55874,54211
  • 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0.02172Inherited
    48371,48371
  • 48371 - ARM repeat
  • 48371 - ARM repeat
  • 0.03919Inherited
    54928,54928
  • 54928 - RNA-binding domain, RBD
  • 54928 - RNA-binding domain, RBD
  • 0.07554Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.1207Inherited
    50729,50729
  • 50729 - PH domain-like
  • 50729 - PH domain-like
  • 0.1219Inherited
    57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.1725Inherited
    57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.1852Inherited
    46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.2822Inherited
    49899,57196
  • 49899 - Concanavalin A-like lectins/glucanases
  • 57196 - EGF/Laminin
  • 0.4126Inherited
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0.4126Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.778Inherited

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    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
    57716,57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.01574Inherited
    46966,46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.2822Inherited


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