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Phenotypic Abnormality (PA): Abnormality of limb bone

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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)
+ 1:   Abnormality of the skeletal system [HP:0000924] <7>(87|94) (95|55|32)
0:   Abnormality of limb bone [HP:0040068] <1>(25|27) (27|18|18)
- 1:   Abnormality of limb bone morphology [HP:0002813] <13>(25|27) (27|18|18)


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
BRK domain-like0Direct
Notch domain0Direct
TB module/8-cys domain0Direct
WD40 repeat-like0.005255Inherited
FnI-like domain0.01553Inherited
Hect, E3 ligase catalytic domain0.02635Inherited
Arginase/deacetylase0.03483Inherited
Insulin-like0.03483Inherited
ARID-like0.07224Inherited
vWA-like0.07529Inherited
SCOP hierarchy in SUPERFAMILY0.09388Inherited
Restriction endonuclease-like0.1238Inherited
Cystine-knot cytokines0.1961Inherited
HLH, helix-loop-helix DNA-binding domain0.2222Inherited
Tudor/PWWP/MBT0.2305Inherited
p53-like transcription factors0.2505Inherited
GroEL equatorial domain-like0.2626Inherited
Hemopexin-like domain0.2879Inherited
TPR-like0.3603Inherited
PGBD-like0.4049Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.4049Inherited
Concanavalin A-like lectins/glucanases0.4178Inherited
Immunoglobulin0.6374Inherited
Class II aaRS and biotin synthetases0.9517Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
Notch domain0Direct
TB module/8-cys domain0Direct
XPF/Rad1/Mus81 nuclease0Direct
BRK domain-like0Direct
Proteasome subunits0Direct
Exostosin0Direct
Histone deacetylase, HDAC0Direct
Actin/HSP700.0003628Direct
Erythroid transcription factor GATA-10.0011Inherited
Transforming growth factor (TGF)-beta0.004257Inherited
VWC domain0.01252Inherited
Hect, E3 ligase catalytic domain0.01823Inherited
Insulin-like0.0249Inherited
Integrin A (or I) domain0.04088Inherited
ARID domain0.05571Inherited
Fibronectin type II module0.06908Inherited
TSP-1 type 1 repeat0.0782Inherited
Sema domain0.08874Inherited
HLH, helix-loop-helix DNA-binding domain0.1873Inherited
Homeodomain0.2277Inherited
RecA protein-like (ATPase-domain)0.2502Inherited
Hemopexin-like domain0.2502Inherited
I set domains0.2574Inherited
Classic zinc finger, C2H20.298Inherited
Matrix metalloproteases, catalytic domain0.3637Inherited
MMP N-terminal domain0.3637Inherited
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.9031Inherited


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)
Notch domain0Direct
TB module/8-cys domain0Direct
RuvA domain 2-like0Direct
BRK domain-like0Direct
WD40 repeat-like0.00329Inherited
FnI-like domain0.01046Inherited
Hect, E3 ligase catalytic domain0.01852Inherited
Arginase/deacetylase0.02519Inherited
Insulin-like0.02519Inherited
ARID-like0.05559Inherited
vWA-like0.05809Inherited
TSP-1 type 1 repeat0.07831Inherited
Sema domain0.08821Inherited
Restriction endonuclease-like0.09971Inherited
Cystine-knot cytokines0.1643Inherited
HLH, helix-loop-helix DNA-binding domain0.1886Inherited
Tudor/PWWP/MBT0.1962Inherited
p53-like transcription factors0.2149Inherited
GroEL equatorial domain-like0.2263Inherited
Hemopexin-like domain0.2503Inherited
TPR-like0.3197Inherited
PGBD-like0.3633Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.3633Inherited
Concanavalin A-like lectins/glucanases0.3757Inherited
Immunoglobulin0.5973Inherited
E set domains0.8706Inherited
Class II aaRS and biotin synthetases0.9262Inherited

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Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
57581,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    57196,90193
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    57184,57581
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 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
    57196,57581
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.001113Inherited
    57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.01046Inherited
    50729,50729
  • 50729 - PH domain-like
  • 50729 - PH domain-like
  • 0.05559Inherited
    101912,103575
  • 101912 - Sema domain
  • 103575 - Plexin repeat
  • 0.08821Inherited
    81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.09971Inherited
    103575,48726
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0.09971Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.09971Inherited
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0.1431Inherited
    47090,55486
  • 47090 - PGBD-like
  • 55486 - Metalloproteases ("zincins"), catalytic domain
  • 0.3633Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.4072Inherited
    48452,48452
  • 48452 - TPR-like
  • 48452 - TPR-like
  • 0.5414Inherited
    57667,57667
  • 57667 - beta-beta-alpha zinc fingers
  • 57667 - beta-beta-alpha zinc fingers
  • 0.606Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    57184,57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57581,57196,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0Direct
    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
    57184,57581,57196
  • 57184 - Growth factor receptor domain
  • 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
    57196,57196,90193
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    57581,57196,57581
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    57184,57184,57581
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    57196,57184,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 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
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.002229Inherited
    101912,103575,48726
  • 101912 - Sema domain
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0.09971Inherited
    81296,81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.09971Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.1024Inherited


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