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Phenotypic Abnormality (PA): Abnormality of the hand

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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)
+ + + 3:   Phenotypic abnormality [HP:0000118] <25>
+ + 2:   Abnormality of limbs [HP:0040064] <8>(58|66) (63|33|25)
+ 1:   Abnormality of the upper limb [HP:0002817] <20>(29|35) (35|17|16)
0:   Abnormality of the hand [HP:0001155] <26>(22|27) (27|15|14)
- 1:   Abnormality of finger [HP:0001167] <24>(12|16) (13|9|10)
- 1:   Abnormality of the carpal bones [HP:0001191] <17>(0|0) (0|0|0)
- 1:   Abnormal hand morphology [HP:0005922] <11>(2|3) (2|2|4)
- 1:   Abnormality of the metacarpal bones [HP:0001163] <11>(1|0) (1|1|1)
- 1:   Abnormal hand bone ossification [HP:0010660] <8>(0|0) (0|0|0)
- 1:   Abnormality of the musculature of the hand [HP:0001421] <6>(2|2) (2|1|0)
- 1:   Abnormality of the palm [HP:0100871] <6>(6|7) (7|2|1)
- 1:   Aplasia/hypoplasia involving bones of the hand [HP:0005927] <6>(3|6) (6|2|4)
- 1:   Abnormality of the epiphyses of the hand [HP:0005924] <4>(0|0) (0|0|0)
- 1:   Deviation of the hand or of fingers of the hand [HP:0009484] <3>(1|2) (1|0|0)
- 1:   Joint contracture of the hand [HP:0009473] <3>(0|1) (0|3|0)
- 1:   Synostosis involving bones of the hand [HP:0004278] <3>(0|0) (0|0|0)
- 1:   Abnormality of hand cortical bone [HP:0005926] <2>(0|0) (0|0|0)
- 1:   Decreased finger mobility [HP:0006135] <2>(0|0) (0|0|0)
- 1:   Duplication of hand bones [HP:0004275] <2>(2|1) (2|1|0)
- 1:   Osteolytic defects of the hand bones [HP:0009699] <2>(0|0) (0|0|0)
- 1:   Abnormalities of the metaphyses of the hand [HP:0005923] <1>(0|0) (0|0|0)
- 1:   Abnormality of hand joint mobility [HP:0006256] <1>(1|1) (1|1|0)
- 1:   Autoamputation of digits [HP:0007460] <1>(0|0) (0|0|0)
- 1:   Abnormalities of the diaphyses of the hand [HP:0005925](0|0) (0|0|0)
- 1:   Abnormality of dorsoventral patterning of the limbs [HP:0100270](0|0) (0|0|0)
- 1:   Exostoses of hand bones [HP:0004276](0|0) (0|0|0)
- 1:   Fractured hand bones [HP:0004277](0|0) (0|0|0)
- 1:   Short tubular bones of the hand [HP:0001248](0|0) (0|0|0)
- 1:   Split hand [HP:0001171](0|0) (0|0|0)
- 1:   Ulnar claw [HP:0001178](0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
RuvA domain 2-like0Direct
Plakin repeat0Direct
WD40 repeat-like0.002113Inherited
EGF/Laminin0.01055Inherited
GroEL equatorial domain-like0.01324Inherited
Arginase/deacetylase0.03367Inherited
Restriction endonuclease-like0.03367Inherited
Insulin-like0.03367Inherited
BRK domain-like0.03367Inherited
ARID-like0.03914Inherited
Multidrug efflux transporter AcrB transmembrane domain0.08376Inherited
HMG-box0.1166Inherited
Prefoldin0.1237Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.2495Inherited
Nicotinic receptor ligand binding domain-like0.2495Inherited
vWA-like0.2769Inherited
p53-like transcription factors0.3129Inherited
HLH, helix-loop-helix DNA-binding domain0.4976Inherited
Intermediate filament protein, coiled coil region0.5238Inherited
Cystine-knot cytokines0.5503Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.9751Inherited
Metalloproteases ("zincins"), catalytic domain0.9837Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
Proteasome subunits0Direct
XPF/Rad1/Mus81 nuclease0Direct
Histone deacetylase, HDAC0Direct
Plakin repeat0Direct
Exostosin0Direct
Erythroid transcription factor GATA-10.0009313Direct
Actin/HSP700.001548Inherited
TB module/8-cys domain0.008326Inherited
Classic zinc finger, C2H20.02096Inherited
BRK domain-like0.02314Inherited
Notch domain0.02314Inherited
Insulin-like0.02314Inherited
ARID domain0.02707Inherited
Laminin-type module0.03406Inherited
Integrin A (or I) domain0.0346Inherited
Bromodomain0.04256Inherited
VWC domain0.05685Inherited
HMG-box0.08736Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.2039Inherited
Nicotinic receptor ligand binding domain-like0.2039Inherited
Homeodomain0.3342Inherited
Tyrosine-dependent oxidoreductases0.3437Inherited
I set domains0.4141Inherited
HLH, helix-loop-helix DNA-binding domain0.4823Inherited
Intermediate filament protein, coiled coil region0.5077Inherited
Transforming growth factor (TGF)-beta0.5942Inherited
RecA protein-like (ATPase-domain)0.7754Inherited


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
RuvA domain 2-like0Direct
SET domain0.0007901Direct
Actin-like ATPase domain0.0008302Direct
WD40 repeat-like0.00119Inherited
EGF/Laminin0.006813Inherited
TB module/8-cys domain0.008714Inherited
GroEL equatorial domain-like0.008714Inherited
BRK domain-like0.02387Inherited
Notch domain0.02387Inherited
Insulin-like0.02387Inherited
Restriction endonuclease-like0.02387Inherited
Arginase/deacetylase0.02387Inherited
ARID-like0.0281Inherited
Bromodomain0.04501Inherited
Multidrug efflux transporter AcrB transmembrane domain0.06475Inherited
HMG-box0.09254Inherited
Prefoldin0.09895Inherited
Nicotinic receptor ligand binding domain-like0.2128Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.2128Inherited
vWA-like0.2385Inherited
p53-like transcription factors0.2723Inherited
HLH, helix-loop-helix DNA-binding domain0.4533Inherited
Intermediate filament protein, coiled coil region0.4793Inherited
Cystine-knot cytokines0.5066Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.952Inherited
Metalloproteases ("zincins"), catalytic domain0.9615Inherited

(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
    52980,47781
  • 52980 - Restriction endonuclease-like
  • 47781 - RuvA domain 2-like
  • 0Direct
    57581,57184
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.004687Inherited
    57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.006248Inherited
    57581,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0.008714Inherited
    57196,57581
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0.008714Inherited
    103575,48726
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0.02387Inherited
    46579,64593
  • 46579 - Prefoldin
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.02387Inherited
    81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.0281Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.06475Inherited
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0.1198Inherited
    57667,57667
  • 57667 - beta-beta-alpha zinc fingers
  • 57667 - beta-beta-alpha zinc fingers
  • 0.1601Inherited
    50729,50729
  • 50729 - PH domain-like
  • 50729 - PH domain-like
  • 0.1827Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.2128Inherited

    (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
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.001984Inherited
    57581,57196,57581
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0.008714Inherited
    57581,57196,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.008714Inherited
    101912,103575,48726
  • 101912 - Sema domain
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0.02387Inherited
    52540,52540,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.02733Inherited
    81296,81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.0281Inherited
    57196,57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.2973Inherited


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