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Phenotypic Abnormality (PA): Abnormal 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] <22>(62|75) (67|30|6)
0:   Abnormal muscle morphology [HP:0011805] <22>(19|22) (19|10|2)
- 1:   Abnormal muscle fiber morphology [HP:0004303] <25>(6|8) (7|2|0)
- 1:   Flexion contracture [HP:0001371] <9>(5|8) (6|6|1)
- 1:   Myopathy [HP:0003198] <6>(0|0) (0|1|0)
- 1:   Rhabdomyolysis [HP:0003201] <5>(0|0) (0|0|0)
- 1:   Muscular dystrophy [HP:0003560] <4>(3|4) (4|2|1)
- 1:   Abnormality of muscle size [HP:0030236] <3>(6|6) (6|3|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:   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:   Levator palpebrae superioris atrophy [HP:0012241](0|0) (0|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) (0|0|0)
- 1:   Skeletal muscle fibrosis [HP:0030951](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)
GroEL equatorial domain-like0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
Ribonuclease PH domain 2-like0Direct
2Fe-2S ferredoxin-like0Direct
Troponin coil-coiled subunits0Direct
Tropomyosin0.0007597Direct
Actin-like ATPase domain0.007389Inherited
RNA-binding domain, RBD0.1199Inherited
Kelch motif0.1777Inherited
MIR domain0.1848Inherited
GLA-domain0.2348Inherited
vWA-like0.2427Inherited
Calponin-homology domain, CH-domain0.2452Inherited
Spectrin repeat0.3879Inherited
Nucleotide-diphospho-sugar transferases0.411Inherited
Nicotinic receptor ligand binding domain-like0.6853Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.6853Inherited
POZ domain0.694Inherited
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)
Ribonuclease PH domain 1-like0Direct
Ribonuclease PH domain 2-like0Direct
Troponin T0Direct
UBA domain0Direct
Serum paraoxonase/arylesterase 1, PON10Direct
Proteasome subunits0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
Tropomyosin0.0004158Direct
FHA domain0.006311Inherited
DNA gyrase/MutL, second domain0.01001Inherited
DNA gyrase/MutL, N-terminal domain0.01001Inherited
Laminin-type module0.03249Inherited
Integrin A (or I) domain0.1034Inherited
Canonical RBD0.1129Inherited
Kelch motif0.152Inherited
MIR domain0.1581Inherited
GLA-domain0.2002Inherited
Calponin-homology domain, CH-domain0.2162Inherited
Spectrin repeat0.3542Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.6603Inherited
Nicotinic receptor ligand binding domain-like0.6603Inherited
Eukaryotic proteases1Inherited


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)
GroEL equatorial domain-like0Direct
2Fe-2S ferredoxin-like0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
Ribonuclease PH domain 2-like0Direct
Troponin coil-coiled subunits0Direct
Tropomyosin0.0004077Direct
Actin-like ATPase domain0.00475Inherited
RNA-binding domain, RBD0.09624Inherited
Kelch motif0.1476Inherited
MIR domain0.1541Inherited
GLA-domain0.2003Inherited
vWA-like0.2076Inherited
Calponin-homology domain, CH-domain0.2098Inherited
Spectrin repeat0.3467Inherited
Nucleotide-diphospho-sugar transferases0.3692Inherited
Nicotinic receptor ligand binding domain-like0.6466Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.6466Inherited
POZ domain0.6555Inherited
Trypsin-like serine proteases0.9882Inherited

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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
    50729,50729
  • 50729 - PH domain-like
  • 50729 - PH domain-like
  • 0.01012Inherited
    55874,54211
  • 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0.01012Inherited
    54928,54928
  • 54928 - RNA-binding domain, RBD
  • 54928 - RNA-binding domain, RBD
  • 0.02264Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.07219Inherited
    57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.09828Inherited
    49899,57196
  • 49899 - Concanavalin A-like lectins/glucanases
  • 57196 - EGF/Laminin
  • 0.2289Inherited
    46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.2411Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.6466Inherited

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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
    46966,46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.2411Inherited


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