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Phenotypic Abnormality (PA): Abnormality of the musculature of the limbs

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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:   Abnormality of the musculature [HP:0003011] <3>(64|83) (70|33|9)
+ + 2:   Phenotypic abnormality [HP:0000118] <25>
+ 1:   Abnormal skeletal muscle morphology [HP:0011805] <38>(30|36) (35|14|4)
+ 1:   Abnormality of limbs [HP:0040064] <8>(58|66) (63|33|25)
0:   Abnormality of the musculature of the limbs [HP:0009127] <10>(12|11) (16|5|3)
- 1:   Abnormality of the musculature of the upper limbs [HP:0001446] <8>(6|7) (7|2|1)
- 1:   Abnormality of the musculature of the lower limbs [HP:0001437] <6>(3|3) (5|2|2)
- 1:   Limb muscle weakness [HP:0003690] <4>(4|4) (6|1|0)
- 1:   Limb-girdle muscle atrophy [HP:0003797] <3>(1|0) (1|0|0)
- 1:   Aplasia/Hypoplasia involving the musculature of the extremities [HP:0009128] <2>(0|0) (0|0|0)
- 1:   Limb hypertonia [HP:0002509] <2>(0|0) (0|0|0)
- 1:   Limb-girdle muscle weakness [HP:0003325] <2>(3|3) (3|2|0)
- 1:   Asymmetric limb muscle stiffness [HP:0007156](0|0) (0|0|0)
- 1:   Generalized weakness of limb muscles [HP:0009028](0|0) (0|0|0)
- 1:   Proximal limb muscle stiffness [HP:0007066](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)
Class II aaRS ABD-related0.0003835Direct
HSP20-like chaperones0.003241Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.004519Inherited
Nicotinic receptor ligand binding domain-like0.004519Inherited
S15/NS1 RNA-binding domain0.01172Inherited
MIR domain0.018Inherited
Calponin-homology domain, CH-domain0.02049Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.0658Inherited
Myosin rod fragments0.0658Inherited
Tropomyosin0.09716Inherited
Nucleotide-diphospho-sugar transferases0.1256Inherited
Actin-like ATPase domain0.3156Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
Anticodon-binding domain of Class II aaRS0.0001992Direct
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.0004145Direct
Neurotransmitter-gated ion-channel transmembrane pore0.002942Inherited
Nicotinic receptor ligand binding domain-like0.002942Inherited
a tRNA synthase domain0.007944Inherited
Filamin repeat (rod domain)0.007944Inherited
MIR domain0.01207Inherited
Calponin-homology domain, CH-domain0.01486Inherited
Myosin rod fragments0.05202Inherited
Tropomyosin0.07947Inherited
LIM domain0.07947Inherited


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)
Class II aaRS ABD-related0.0001909Direct
Class II aaRS and biotin synthetases0.0008891Direct
HSP20-like chaperones0.00189Inherited
Nicotinic receptor ligand binding domain-like0.00272Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.00272Inherited
S15/NS1 RNA-binding domain0.00762Inherited
MIR domain0.0121Inherited
Calponin-homology domain, CH-domain0.01398Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.031Inherited
Myosin rod fragments0.04978Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.04978Inherited
Tropomyosin0.07615Inherited
Spectrin repeat0.1001Inherited
Nucleotide-diphospho-sugar transferases0.1007Inherited
Glucocorticoid receptor-like (DNA-binding domain)0.2254Inherited
Actin-like ATPase domain0.275Inherited

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Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.00189Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.00272Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.002848Inherited
    46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.04978Inherited
    57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.1633Inherited

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    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    81296,81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.00189Inherited
    46966,46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.031Inherited
    57716,57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.04636Inherited


    Plot distribution on phylogenetic tree for Supra-domains (Single/Individual) annotated by this phenotype term
    Plot tree as:   Download Newick format tree:
    (show help)