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Phenotypic Abnormality (PA): Abnormal synaptic transmission at the neuromuscular junction

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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)
+ + + + + 5:   Phenotypic abnormality [HP:0000118] <25>
+ + + + 4:   Abnormality of the nervous system [HP:0000707] <4>(147|170) (164|102|45)
+ + + 3:   Abnormality of nervous system physiology [HP:0012638] <26>(104|120) (119|81|38)
+ + 2:   Abnormal synaptic transmission [HP:0012535] <1>(6|6) (6|2|0)
+ 1:   Abnormal peripheral nervous system synaptic transmission [HP:0030191] <2>(6|6) (6|2|0)
0:   Abnormal synaptic transmission at the neuromuscular junction [HP:0003398] <4>(6|6) (6|2|0)
- 1:   Fatigable weakness [HP:0003473] <3>(6|6) (6|2|0)
- 1:   Decreased miniature endplate potentials [HP:0003402](2|2) (2|1|0)
- 1:   Generalized hypotonia due to defect at the neuromuscular junction [HP:0003397](0|0) (0|0|0)
- 1:   Prolonged miniature endplate currents [HP:0003436](0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
Intermediate filament protein, coiled coil region1Inherited
Nicotinic receptor ligand binding domain-like1Inherited
Calcium-dependent phosphotriesterase1Inherited
Neurotransmitter-gated ion-channel transmembrane pore1Inherited
MIR domain1Inherited
RNA-binding domain, RBD1Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
MIR domain1Inherited
Serum paraoxonase/arylesterase 1, PON11Inherited
Intermediate filament protein, coiled coil region1Inherited
Nicotinic receptor ligand binding domain-like1Inherited
Neurotransmitter-gated ion-channel transmembrane pore1Inherited
Canonical RBD1Inherited


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)
Intermediate filament protein, coiled coil region1Inherited
MIR domain1Inherited
Nicotinic receptor ligand binding domain-like1Inherited
Neurotransmitter-gated ion-channel transmembrane pore1Inherited
RNA-binding domain, RBD1Inherited
Calcium-dependent phosphotriesterase1Inherited

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Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 1Inherited
    54928,54928
  • 54928 - RNA-binding domain, RBD
  • 54928 - RNA-binding domain, RBD
  • 1Inherited


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