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Phenotypic Abnormality (PA): Muscular hypotonia

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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)
+ + + + 4:   Phenotypic abnormality [HP:0000118] <25>
+ + + 3:   Abnormality of the musculature [HP:0003011] <3>(62|74) (69|31|7)
+ + 2:   Abnormal muscle physiology [HP:0011804] <12>(43|55) (52|22|4)
+ 1:   Abnormal muscle tone [HP:0003808] <3>(21|33) (27|15|4)
0:   Muscular hypotonia [HP:0001252] <9>(14|24) (17|9|4)
- 1:   Generalized hypotonia [HP:0001290] <2>(3|7) (3|2|0)
- 1:   Infantile muscular hypotonia [HP:0008947] <1>(1|1) (1|0|0)
- 1:   Muscular hypotonia of the trunk [HP:0008936] <1>(0|0) (0|0|0)
- 1:   Neonatal hypotonia [HP:0001319] <1>(0|0) (1|1|0)
- 1:   Appendicular hypotonia [HP:0012389](0|0) (0|0|0)
- 1:   Facial hypotonia [HP:0000297](1|0) (1|0|0)
- 1:   Frog-leg posture [HP:0031139](0|0) (0|0|0)
- 1:   Oral motor hypotonia [HP:0030190](0|0) (0|0|0)
- 1:   Severe muscular hypotonia [HP:0006829](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)
Thiamin diphosphate-binding fold (THDP-binding)0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
CCCH zinc finger0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
Methylglyoxal synthase-like0Direct
Rudiment single hybrid motif0Direct
4Fe-4S ferredoxins0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
TK C-terminal domain-like0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
PP2C-like0Direct
Single hybrid motif0.0007764Direct
MIR domain0.128Inherited
ARM repeat0.7794Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
beta-glycanases0Direct
BC C-terminal domain-like0Direct
Ferredoxin domains from multidomain proteins0Direct
Glycosyl transferases group 10Direct
Biotin dependent carboxylase carboxyltransferase domain0Direct
BC ATP-binding domain-like0Direct
CCCH zinc finger0Direct
IF2B-like0Direct
PP2C-like0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
N-acetyl transferase, NAT0Direct
Branched-chain alpha-keto acid dehydrogenase beta-subunit, C-terminal-domain0Direct
Branched-chain alpha-keto acid dehydrogenase PP module0Direct
Exostosin0Direct
Branched-chain alpha-keto acid dehydrogenase Pyr module0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Inositol polyphosphate 5-phosphatase (IPP5)0Direct
Protein serine/threonine phosphatase0Direct
BC N-terminal domain-like0Direct
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains0.0003516Direct
Biotinyl/lipoyl-carrier proteins and domains0.0003516Direct
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain0.0003516Direct
PHD domain0.0004062Direct
MIR domain0.09625Inherited


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)
Thiamin diphosphate-binding fold (THDP-binding)0Direct
TK C-terminal domain-like0Direct
PP2C-like0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
CCCH zinc finger0Direct
Rudiment single hybrid motif0Direct
Methylglyoxal synthase-like0Direct
4Fe-4S ferredoxins0Direct
Single hybrid motif0.0004146Direct
Acyl-CoA dehydrogenase NM domain-like0.0009313Direct
Acyl-CoA dehydrogenase C-terminal domain-like0.0009313Direct
MIR domain0.1034Inherited
RING/U-box0.5514Inherited
ARM repeat0.7443Inherited

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Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
51230,47005
  • 51230 - Single hybrid motif
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 0Direct
    47005,52777
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    52518,52922
  • 52518 - Thiamin diphosphate-binding fold (THDP-binding)
  • 52922 - TK C-terminal domain-like
  • 0Direct
    52518,52518
  • 52518 - Thiamin diphosphate-binding fold (THDP-binding)
  • 52518 - Thiamin diphosphate-binding fold (THDP-binding)
  • 0Direct
    56059,51246
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 51246 - Rudiment single hybrid motif
  • 0Direct
    50447,50465
  • 50447 - Translation proteins
  • 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain
  • 0Direct
    47923,47923
  • 47923 - Ypt/Rab-GAP domain of gyp1p
  • 47923 - Ypt/Rab-GAP domain of gyp1p
  • 0Direct
    56645,47203
  • 56645 - Acyl-CoA dehydrogenase NM domain-like
  • 47203 - Acyl-CoA dehydrogenase C-terminal domain-like
  • 0.0009313Direct
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.1049Inherited

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    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    52440,56059,51246
  • 52440 - PreATP-grasp domain
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 51246 - Rudiment single hybrid motif
  • 0Direct
    52540,50447,50465
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain
  • 0Direct
    51230,47005,52777
  • 51230 - Single hybrid motif
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    49899,49899,57196
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 57196 - EGF/Laminin
  • 0Direct


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