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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:   Phenotypic abnormality [HP:0000118] <25>
+ + 2:   Abnormality of the musculature [HP:0003011] <3>(62|74) (69|31|7)
+ 1:   Abnormality of limbs [HP:0040064] <8>(57|64) (59|32|25)
+ 1:   Abnormal skeletal muscle morphology [HP:0011805] <38>(30|34) (32|13|3)
0:   Abnormality of the musculature of the limbs [HP:0009127] <10>(12|8) (14|4|2)
- 1:   Abnormality of the musculature of the upper limbs [HP:0001446] <8>(5|4) (5|1|0)
- 1:   Abnormality of the musculature of the lower limbs [HP:0001437] <6>(3|3) (5|2|2)
- 1:   Limb muscle weakness [HP:0003690] <4>(5|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)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
S15/NS1 RNA-binding domain0.001332Inherited
HSP20-like chaperones0.003111Inherited
MIR domain0.01708Inherited
Nicotinic receptor ligand binding domain-like0.01927Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.01927Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.04171Inherited
Calponin-homology domain, CH-domain0.05712Inherited
Myosin rod fragments0.06432Inherited
Tropomyosin0.09536Inherited
Nucleotide-diphospho-sugar transferases0.1225Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.1358Inherited
Actin-like ATPase domain0.4633Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
a tRNA synthase domain0.0007316Direct
MIR domain0.01129Inherited
Nicotinic receptor ligand binding domain-like0.01359Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.01359Inherited
Calponin-homology domain, CH-domain0.04439Inherited
Myosin rod fragments0.05016Inherited
LIM domain0.07697Inherited
Tropomyosin0.07697Inherited


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)
S15/NS1 RNA-binding domain0.0007397Direct
HSP20-like chaperones0.001842Inherited
MIR domain0.01158Inherited
Nicotinic receptor ligand binding domain-like0.01317Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.01317Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.03038Inherited
Calponin-homology domain, CH-domain0.04302Inherited
Myosin rod fragments0.04894Inherited
Tropomyosin0.07502Inherited
Nucleotide-diphospho-sugar transferases0.0984Inherited
Spectrin repeat0.09847Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.1105Inherited
Glucocorticoid receptor-like (DNA-binding domain)0.2147Inherited
Actin-like ATPase domain0.4203Inherited

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Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.002708Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.01317Inherited
    46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.04894Inherited
    57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.161Inherited

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    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    46966,46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.03038Inherited
    57716,57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.04567Inherited


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