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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>(55|63) (58|31|22)
0:   Abnormality of the upper limb [HP:0002817] <20>(26|31) (31|19|15)
- 1:   Abnormality of the hand [HP:0001155] <26>(20|26) (25|17|13)
- 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|7) (5|2|4)
- 1:   Abnormality of the forearm [HP:0002973] <7>(3|4) (4|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>(3|5) (6|2|1)
- 1:   Abnormality of upper limb joint [HP:0009810] <4>(3|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>(1|1) (1|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
RuvA domain 2-like0Direct
BRK domain-like0Direct
Plakin repeat0Direct
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.002175Inherited
Growth factor receptor domain0.006532Inherited
Restriction endonuclease-like0.03707Inherited
Arginase/deacetylase0.03707Inherited
Insulin-like0.03707Inherited
EGF/Laminin0.03921Inherited
Tropomyosin0.04415Inherited
ARID-like0.04446Inherited
SET domain0.06288Inherited
Prefoldin0.08643Inherited
Cystine-knot cytokines0.1421Inherited
HLH, helix-loop-helix DNA-binding domain0.1589Inherited
Myosin rod fragments0.1614Inherited
WD40 repeat-like0.1962Inherited
Intermediate filament protein, coiled coil region0.2139Inherited
Calponin-homology domain, CH-domain0.2479Inherited
p53-like transcription factors0.2821Inherited
GroEL equatorial domain-like0.3197Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.3938Inherited
vWA-like0.5167Inherited
Nicotinic receptor ligand binding domain-like0.7009Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.7009Inherited


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Family

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SCOP termFDR (all)Annotation (direct or inherited)
XPF/Rad1/Mus81 nuclease0Direct
BRK domain-like0Direct
Smc hinge domain0Direct
Proteasome subunits0Direct
Exostosin0Direct
Plakin repeat0Direct
Histone deacetylase, HDAC0Direct
Erythroid transcription factor GATA-10.001202Inherited
Insulin-like0.02604Inherited
Tropomyosin0.03088Inherited
ARID domain0.03133Inherited
Transforming growth factor (TGF)-beta0.06106Inherited
Integrin A (or I) domain0.07875Inherited
HLH, helix-loop-helix DNA-binding domain0.1234Inherited
Myosin rod fragments0.1312Inherited
Laminin-type module0.1312Inherited
Actin/HSP700.1692Inherited
Intermediate filament protein, coiled coil region0.1714Inherited
Classic zinc finger, C2H20.186Inherited
Calponin-homology domain, CH-domain0.2092Inherited
RecA protein-like (ATPase-domain)0.217Inherited
Sema domain0.217Inherited
TB module/8-cys domain0.2795Inherited
VWC domain0.2795Inherited
Homeodomain0.3367Inherited
Notch domain0.3602Inherited
Tyrosine-dependent oxidoreductases0.3869Inherited
PHD domain0.4143Inherited
Bromodomain0.4316Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.6626Inherited
Nicotinic receptor ligand binding domain-like0.6626Inherited


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)
Plakin repeat0Direct
Smc hinge domain0Direct
RuvA domain 2-like0Direct
BRK domain-like0Direct
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.001261Inherited
Growth factor receptor domain0.004159Inherited
Arginase/deacetylase0.02694Inherited
Insulin-like0.02694Inherited
Restriction endonuclease-like0.02694Inherited
EGF/Laminin0.02862Inherited
Tropomyosin0.0325Inherited
ARID-like0.03276Inherited
Nucleotide-diphospho-sugar transferases0.03861Inherited
SET domain0.04783Inherited
Prefoldin0.06766Inherited
Cystine-knot cytokines0.116Inherited
HLH, helix-loop-helix DNA-binding domain0.1308Inherited
Myosin rod fragments0.1332Inherited
WD40 repeat-like0.1645Inherited
Intermediate filament protein, coiled coil region0.181Inherited
Calponin-homology domain, CH-domain0.2123Inherited
Sema domain0.2186Inherited
p53-like transcription factors0.2447Inherited
GroEL equatorial domain-like0.2807Inherited
TB module/8-cys domain0.2807Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.3525Inherited
Notch domain0.3617Inherited
Bromodomain0.4335Inherited
vWA-like0.4736Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.6625Inherited
Nicotinic receptor ligand binding domain-like0.6625Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
75399,75399
  • 75399 - Plakin repeat
  • 75399 - Plakin repeat
  • 0Direct
    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
    49562,48350
  • 49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
  • 48350 - GTPase activation domain, GAP
  • 0Direct
    81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.01024Inherited
    46579,64593
  • 46579 - Prefoldin
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.02694Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.0626Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.07278Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.07984Inherited
    57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.08905Inherited
    57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.1037Inherited
    101912,103575
  • 101912 - Sema domain
  • 103575 - Plexin repeat
  • 0.2186Inherited
    57581,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0.2807Inherited
    57196,57581
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0.2807Inherited
    103575,48726
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0.3617Inherited
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0.3617Inherited
    57667,57667
  • 57667 - beta-beta-alpha zinc fingers
  • 57667 - beta-beta-alpha zinc fingers
  • 0.5098Inherited
    50729,50729
  • 50729 - PH domain-like
  • 50729 - PH domain-like
  • 0.6292Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.6625Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    57184,57184,57196
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0Direct
    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
    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
    57184,57581,57184
  • 57184 - Growth factor receptor domain
  • 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
    81296,81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.01024Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.05207Inherited
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.1037Inherited
    57581,57196,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.2807Inherited
    57581,57196,57581
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0.2807Inherited
    101912,103575,48726
  • 101912 - Sema domain
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0.3617Inherited
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.3617Inherited
    57196,57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.4999Inherited


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