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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>(58|66) (63|33|25)
0:   Abnormality of the upper limb [HP:0002817] <20>(29|35) (35|17|16)
- 1:   Abnormality of the hand [HP:0001155] <26>(22|27) (27|15|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>(6|7) (7|2|1)
- 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>(5|4) (6|2|1)
- 1:   Abnormality of upper limb joint [HP:0009810] <4>(4|5) (4|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|1) (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)
RuvA domain 2-like0Direct
Plakin repeat0Direct
Smc hinge domain0Direct
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.002745Inherited
Arginase/deacetylase0.04175Inherited
Restriction endonuclease-like0.04175Inherited
Insulin-like0.04175Inherited
EGF/Laminin0.04682Inherited
ARID-like0.05024Inherited
Tropomyosin0.05065Inherited
SET domain0.0544Inherited
Calponin-homology domain, CH-domain0.0544Inherited
Multidrug efflux transporter AcrB transmembrane domain0.1018Inherited
HLH, helix-loop-helix DNA-binding domain0.1172Inherited
WD40 repeat-like0.1433Inherited
Prefoldin0.1528Inherited
Myosin rod fragments0.1712Inherited
Intermediate filament protein, coiled coil region0.2502Inherited
HMG-box0.2626Inherited
Metalloproteases ("zincins"), catalytic domain0.2847Inherited
Cystine-knot cytokines0.2847Inherited
GroEL equatorial domain-like0.3329Inherited
p53-like transcription factors0.4031Inherited
Histone-fold0.4159Inherited
BRK domain-like0.4159Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.4223Inherited
vWA-like0.5394Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.8378Inherited
Nicotinic receptor ligand binding domain-like0.8378Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
Proteasome subunits0Direct
Smc hinge domain0Direct
XPF/Rad1/Mus81 nuclease0Direct
Histone deacetylase, HDAC0Direct
Plakin repeat0Direct
Exostosin0Direct
Erythroid transcription factor GATA-10.001446Inherited
Insulin-like0.0288Inherited
Tropomyosin0.03523Inherited
ARID domain0.03525Inherited
Calponin-homology domain, CH-domain0.04035Inherited
Transforming growth factor (TGF)-beta0.06753Inherited
HLH, helix-loop-helix DNA-binding domain0.08347Inherited
Classic zinc finger, C2H20.08348Inherited
Integrin A (or I) domain0.08601Inherited
Growth factor receptor domain0.1247Inherited
Laminin-type module0.1406Inherited
Myosin rod fragments0.1406Inherited
Actin/HSP700.1406Inherited
Intermediate filament protein, coiled coil region0.1953Inherited
MIR domain0.2106Inherited
HMG-box0.2245Inherited
RecA protein-like (ATPase-domain)0.2286Inherited
I set domains0.2714Inherited
VWC domain0.2924Inherited
TB module/8-cys domain0.2924Inherited
Filamin repeat (rod domain)0.3741Inherited
BRK domain-like0.3741Inherited
Notch domain0.3741Inherited
PHD domain0.3864Inherited
Tyrosine-dependent oxidoreductases0.4142Inherited
Homeodomain0.4516Inherited
Bromodomain0.453Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.8108Inherited
Nicotinic receptor ligand binding domain-like0.8108Inherited


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)0.00158Inherited
Insulin-like0.03011Inherited
Restriction endonuclease-like0.03011Inherited
Arginase/deacetylase0.03011Inherited
EGF/Laminin0.03422Inherited
ARID-like0.03702Inherited
Tropomyosin0.03737Inherited
Calponin-homology domain, CH-domain0.0404Inherited
SET domain0.0404Inherited
Nucleotide-diphospho-sugar transferases0.0435Inherited
Multidrug efflux transporter AcrB transmembrane domain0.08007Inherited
HLH, helix-loop-helix DNA-binding domain0.09316Inherited
WD40 repeat-like0.1165Inherited
Prefoldin0.1248Inherited
Myosin rod fragments0.141Inherited
Actin-like ATPase domain0.1521Inherited
Intermediate filament protein, coiled coil region0.2135Inherited
MIR domain0.2175Inherited
HMG-box0.2249Inherited
Metalloproteases ("zincins"), catalytic domain0.2459Inherited
Cystine-knot cytokines0.2459Inherited
TB module/8-cys domain0.2916Inherited
GroEL equatorial domain-like0.2916Inherited
p53-like transcription factors0.3597Inherited
BRK domain-like0.3722Inherited
Histone-fold0.3722Inherited
Notch domain0.3722Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.3785Inherited
Bromodomain0.4519Inherited
vWA-like0.4954Inherited
Nicotinic receptor ligand binding domain-like0.8046Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.8046Inherited

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Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
75399,75399
  • 75399 - Plakin repeat
  • 75399 - Plakin repeat
  • 0Direct
    52980,47781
  • 52980 - Restriction endonuclease-like
  • 47781 - RuvA domain 2-like
  • 0Direct
    49562,48350
  • 49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
  • 48350 - GTPase activation domain, GAP
  • 0Direct
    57581,57184
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    46579,64593
  • 46579 - Prefoldin
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.03011Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.08007Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.08573Inherited
    57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.1001Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.1494Inherited
    57667,57667
  • 57667 - beta-beta-alpha zinc fingers
  • 57667 - beta-beta-alpha zinc fingers
  • 0.2587Inherited
    57581,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0.2916Inherited
    57196,57581
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0.2916Inherited
    81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.2916Inherited
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0.3722Inherited
    103575,48726
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0.3722Inherited
    50729,50729
  • 50729 - PH domain-like
  • 50729 - PH domain-like
  • 0.6425Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.8046Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    57196,57581,57196
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    57196,57196,57581
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    57184,57184,57196
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0Direct
    57196,57184,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57184,57581,57184
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57196,57581,57184
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys 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
  • 0.03737Inherited
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.1107Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.1186Inherited
    57581,57196,57581
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0.2916Inherited
    81296,81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.2916Inherited
    57581,57196,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.2916Inherited
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.3722Inherited
    101912,103575,48726
  • 101912 - Sema domain
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0.3722Inherited
    57196,57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.5181Inherited


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