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Phenotypic Abnormality (PA): Abnormality of the upper limb

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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 limbs [HP:0040064] <8>(57|64) (59|32|25)
0:   Abnormality of the upper limb [HP:0002817] <20>(26|29) (30|18|16)
- 1:   Abnormality of the hand [HP:0001155] <26>(20|25) (24|16|14)
- 1:   Abnormality of upper limb epiphysis morphology [HP:0003839] <12>(0|0) (0|0|0)
- 1:   Abnormality of upper limb metaphysis [HP:0009809] <12>(0|0) (0|0|0)
- 1:   Abnormality of the musculature of the upper limbs [HP:0001446] <8>(5|4) (5|1|0)
- 1:   Aplasia/hypoplasia involving bones of the upper limbs [HP:0006496] <8>(3|8) (6|2|4)
- 1:   Abnormality of the forearm [HP:0002973] <7>(4|4) (5|2|1)
- 1:   Anomaly of the upper limb diaphyses [HP:0009808] <7>(0|0) (0|0|0)
- 1:   Abnormal upper limb bone morphology [HP:0040070] <5>(4|4) (6|2|1)
- 1:   Abnormality of upper limb joint [HP:0009810] <4>(4|5) (5|4|2)
- 1:   Abnormal arm span [HP:0012769] <2>(0|0) (0|0|0)
- 1:   Abnormality of the upper arm [HP:0001454] <2>(0|0) (0|0|0)
- 1:   Bowing of the arm [HP:0006488] <2>(0|0) (0|0|0)
- 1:   Upper limb asymmetry [HP:0100560] <2>(0|0) (0|0|0)
- 1:   Duplication of bones involving the upper extremities [HP:0009142] <1>(2|1) (2|1|0)
- 1:   Hypertrophy of the upper limb [HP:0010484] <1>(0|0) (0|0|0)
- 1:   Amniotic constriction rings of arms [HP:0010483](0|0) (0|0|0)
- 1:   Areflexia of upper limbs [HP:0012046](0|0) (0|0|0)
- 1:   Distal upper limb muscle weakness [HP:0008959](0|0) (0|0|0)
- 1:   Edema of the upper limbs [HP:0010742](0|0) (0|0|0)
- 1:   Hyporeflexia of upper limbs [HP:0012391](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)
Smc hinge domain0Direct
Plakin repeat0Direct
RuvA domain 2-like0Direct
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.002564Inherited
Arginase/deacetylase0.04035Inherited
Restriction endonuclease-like0.04035Inherited
Insulin-like0.04035Inherited
EGF/Laminin0.04735Inherited
ARID-like0.04836Inherited
Tropomyosin0.04859Inherited
SET domain0.06907Inherited
Prefoldin0.09314Inherited
Multidrug efflux transporter AcrB transmembrane domain0.09884Inherited
HLH, helix-loop-helix DNA-binding domain0.1102Inherited
WD40 repeat-like0.1616Inherited
Myosin rod fragments0.1716Inherited
Intermediate filament protein, coiled coil region0.239Inherited
Cystine-knot cytokines0.2846Inherited
GroEL equatorial domain-like0.3318Inherited
p53-like transcription factors0.3488Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.4132Inherited
BRK domain-like0.4155Inherited
Histone-fold0.4155Inherited
vWA-like0.5398Inherited
Nicotinic receptor ligand binding domain-like0.8388Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.8388Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
Plakin repeat0Direct
Proteasome subunits0Direct
Smc hinge domain0Direct
XPF/Rad1/Mus81 nuclease0Direct
Histone deacetylase, HDAC0Direct
Exostosin0Direct
Erythroid transcription factor GATA-10.001361Inherited
Insulin-like0.02798Inherited
Tropomyosin0.03372Inherited
ARID domain0.0339Inherited
Transforming growth factor (TGF)-beta0.06745Inherited
HLH, helix-loop-helix DNA-binding domain0.0785Inherited
Classic zinc finger, C2H20.08336Inherited
Integrin A (or I) domain0.08597Inherited
Myosin rod fragments0.1406Inherited
Laminin-type module0.1406Inherited
Intermediate filament protein, coiled coil region0.1868Inherited
I set domains0.2071Inherited
RecA protein-like (ATPase-domain)0.2289Inherited
VWC domain0.2914Inherited
TB module/8-cys domain0.2914Inherited
Notch domain0.3734Inherited
BRK domain-like0.3734Inherited
Tyrosine-dependent oxidoreductases0.4041Inherited
PHD domain0.4382Inherited
Homeodomain0.452Inherited
Bromodomain0.4527Inherited
Nicotinic receptor ligand binding domain-like0.8104Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.8104Inherited


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)
Smc hinge domain0Direct
Plakin repeat0Direct
RuvA domain 2-like0Direct
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.001492Inherited
Insulin-like0.02932Inherited
Arginase/deacetylase0.02932Inherited
Restriction endonuclease-like0.02932Inherited
EGF/Laminin0.03505Inherited
ARID-like0.03588Inherited
Tropomyosin0.03607Inherited
Nucleotide-diphospho-sugar transferases0.04416Inherited
SET domain0.05287Inherited
Prefoldin0.07307Inherited
Multidrug efflux transporter AcrB transmembrane domain0.07807Inherited
HLH, helix-loop-helix DNA-binding domain0.08761Inherited
WD40 repeat-like0.1332Inherited
Myosin rod fragments0.1421Inherited
Intermediate filament protein, coiled coil region0.2039Inherited
Cystine-knot cytokines0.2468Inherited
GroEL equatorial domain-like0.2922Inherited
TB module/8-cys domain0.2922Inherited
p53-like transcription factors0.3082Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.3706Inherited
BRK domain-like0.3729Inherited
Histone-fold0.3729Inherited
Notch domain0.3729Inherited
Bromodomain0.4541Inherited
vWA-like0.497Inherited
Nicotinic receptor ligand binding domain-like0.8062Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.8062Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
57581,57184
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    52980,47781
  • 52980 - Restriction endonuclease-like
  • 47781 - RuvA domain 2-like
  • 0Direct
    75399,75399
  • 75399 - Plakin repeat
  • 75399 - Plakin repeat
  • 0Direct
    49562,48350
  • 49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
  • 48350 - GTPase activation domain, GAP
  • 0Direct
    46579,64593
  • 46579 - Prefoldin
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.02932Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.07807Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.08647Inherited
    57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.1015Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.1082Inherited
    57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.1117Inherited
    57667,57667
  • 57667 - beta-beta-alpha zinc fingers
  • 57667 - beta-beta-alpha zinc fingers
  • 0.221Inherited
    57581,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0.2922Inherited
    81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.2922Inherited
    57196,57581
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0.2922Inherited
    103575,48726
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0.3729Inherited
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0.3729Inherited
    50729,50729
  • 50729 - PH domain-like
  • 50729 - PH domain-like
  • 0.6433Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.8062Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    57196,57196,57581
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    57184,57581,57184
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57196,57581,57196
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    57184,57184,57196
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0Direct
    57196,57581,57184
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57196,57184,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57581,57184,57581
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    52540,52540,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.03607Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.05976Inherited
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.1117Inherited
    81296,81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.2922Inherited
    57581,57196,57581
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0.2922Inherited
    57581,57196,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.2922Inherited
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.3729Inherited
    101912,103575,48726
  • 101912 - Sema domain
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0.3729Inherited
    57196,57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.5196Inherited


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