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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>(58|65) (63|33|25)
+ 1:   Abnormality of the skeletal system [HP:0000924] <7>(88|98) (93|54|34)
0:   Abnormality of limb bone [HP:0040068] <1>(29|31) (33|18|20)
- 1:   Abnormality of limb bone morphology [HP:0002813] <13>(29|31) (32|18|20)


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

Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
Notch domain0Direct
TB module/8-cys domain0Direct
CalX-like0Direct
RuvA domain 2-like0Direct
WD40 repeat-like0.004959Inherited
SET domain0.01578Inherited
FnI-like domain0.02425Inherited
Hect, E3 ligase catalytic domain0.03839Inherited
Insulin-like0.04319Inherited
Arginase/deacetylase0.04319Inherited
Histone-fold0.08977Inherited
ARID-like0.08977Inherited
Hemopexin-like domain0.1396Inherited
Multidrug efflux transporter AcrB transmembrane domain0.1467Inherited
BRK domain-like0.1467Inherited
Restriction endonuclease-like0.1467Inherited
vWA-like0.1649Inherited
HLH, helix-loop-helix DNA-binding domain0.2004Inherited
Metalloproteases ("zincins"), catalytic domain0.2046Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.2074Inherited
PGBD-like0.2074Inherited
Cystine-knot cytokines0.2676Inherited
Concanavalin A-like lectins/glucanases0.2982Inherited
GroEL equatorial domain-like0.304Inherited
p53-like transcription factors0.4774Inherited
HMG-box0.4793Inherited
Immunoglobulin0.7786Inherited
Voltage-gated potassium channels0.9363Inherited
Class II aaRS and biotin synthetases0.9911Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
Notch domain0Direct
Exostosin0Direct
XPF/Rad1/Mus81 nuclease0Direct
TB module/8-cys domain0Direct
Histone deacetylase, HDAC0Direct
Proteasome subunits0Direct
CalX-beta domain0Direct
Actin/HSP700.000181Direct
Erythroid transcription factor GATA-10.001551Inherited
Transforming growth factor (TGF)-beta0.006676Inherited
VWC domain0.01617Inherited
Hect, E3 ligase catalytic domain0.02544Inherited
ZZ domain0.0299Inherited
Insulin-like0.0299Inherited
PHD domain0.03525Inherited
Integrin A (or I) domain0.05496Inherited
ARID domain0.06753Inherited
Growth factor receptor domain0.07276Inherited
Fibronectin type II module0.0799Inherited
Hemopexin-like domain0.1078Inherited
BRK domain-like0.116Inherited
TSP-1 type 1 repeat0.1292Inherited
HLH, helix-loop-helix DNA-binding domain0.1513Inherited
MMP N-terminal domain0.1677Inherited
Matrix metalloproteases, catalytic domain0.1677Inherited
Tetratricopeptide repeat (TPR)0.214Inherited
Classic zinc finger, C2H20.2876Inherited
RecA protein-like (ATPase-domain)0.2879Inherited
HMG-box0.4188Inherited
I set domains0.4909Inherited
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.9595Inherited


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)
TB module/8-cys domain0Direct
CalX-like0Direct
RuvA domain 2-like0Direct
Notch domain0Direct
Protein kinase-like (PK-like)0.0007163Direct
WD40 repeat-like0.00302Inherited
SET domain0.01054Inherited
FnI-like domain0.01676Inherited
Hect, E3 ligase catalytic domain0.02756Inherited
Arginase/deacetylase0.0313Inherited
Insulin-like0.0313Inherited
ARID-like0.06984Inherited
Histone-fold0.06984Inherited
TPR-like0.09924Inherited
Nucleotide-diphospho-sugar transferases0.107Inherited
Hemopexin-like domain0.1133Inherited
Multidrug efflux transporter AcrB transmembrane domain0.1196Inherited
Restriction endonuclease-like0.1196Inherited
BRK domain-like0.1196Inherited
vWA-like0.1354Inherited
HLH, helix-loop-helix DNA-binding domain0.1677Inherited
Metalloproteases ("zincins"), catalytic domain0.1716Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.1742Inherited
PGBD-like0.1742Inherited
Cystine-knot cytokines0.2296Inherited
Concanavalin A-like lectins/glucanases0.2584Inherited
GroEL equatorial domain-like0.264Inherited
p53-like transcription factors0.4335Inherited
HMG-box0.4355Inherited
Cysteine proteinases0.736Inherited
Immunoglobulin0.7422Inherited
Voltage-gated potassium channels0.9096Inherited
Class II aaRS and biotin synthetases0.9698Inherited

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Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
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
    141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 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
    57196,90193
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    57581,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.002055Inherited
    57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.04209Inherited
    81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.06984Inherited
    50729,50729
  • 50729 - PH domain-like
  • 50729 - PH domain-like
  • 0.07836Inherited
    103575,48726
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0.1196Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.1196Inherited
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0.1742Inherited
    47090,55486
  • 47090 - PGBD-like
  • 55486 - Metalloproteases ("zincins"), catalytic domain
  • 0.1742Inherited
    48452,48452
  • 48452 - TPR-like
  • 48452 - TPR-like
  • 0.3483Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.5229Inherited
    57667,57667
  • 57667 - beta-beta-alpha zinc fingers
  • 57667 - beta-beta-alpha zinc fingers
  • 0.6174Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    141072,141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    57581,57196,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 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
    57581,57184,57581
  • 57581 - TB module/8-cys 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
    57196,57581,57184
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57581,57196,57581
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    57184,57184,57184
  • 57184 - Growth factor receptor domain
  • 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
    57196,57196,90193
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    57184,57184,57196
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0Direct
    57184,57184,57581
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0Direct
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.003868Inherited
    81296,81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.06984Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.07222Inherited
    101912,103575,48726
  • 101912 - Sema domain
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0.1196Inherited
    52540,52540,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.2971Inherited


    Plot distribution on phylogenetic tree for Supra-domains (Single/Individual) annotated by this phenotype term
    Plot tree as:   Download Newick format tree:
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