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Phenotypic Abnormality (PA): Abnormality of limb bone morphology

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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 skeletal morphology [HP:0011842] <19>(82|83) (88|48|29)
+ + 2:   Abnormality of limbs [HP:0040064] <8>(55|63) (58|31|22)
+ + 2:   Abnormality of the skeletal system [HP:0000924] <7>(87|94) (95|55|32)
+ 1:   Abnormality of limb bone [HP:0040068] <1>(25|27) (27|18|18)
+ 1:   Abnormal appendicular skeleton morphology [HP:0011844] <4>(33|39) (37|23|21)
0:   Abnormality of limb bone morphology [HP:0002813] <13>(25|27) (27|18|18)
- 1:   Abnormality of the metaphysis [HP:0000944] <19>(2|5) (2|1|0)
- 1:   Abnormal digit morphology [HP:0011297] <10>(18|20) (18|16|16)
- 1:   Abnormal morphology of bones of the upper limbs [HP:0040065] <6>(0|1) (1|1|1)
- 1:   Anomaly of the limb diaphyses [HP:0006504] <6>(0|0) (0|0|0)
- 1:   Abnormal morphology of bones of the lower limbs [HP:0040066] <5>(5|5) (8|0|0)
- 1:   Aplasia/hypoplasia involving bones of the extremities [HP:0045060] <3>(5|8) (8|3|5)
- 1:   Abnormality of limb epiphysis morphology [HP:0006505] <2>(2|1) (3|0|0)
- 1:   Ectrodactyly [HP:0100257] <2>(0|0) (0|0|0)
- 1:   Abnormality of radial ray [HP:0410049](0|0) (0|0|0)
- 1:   Absent ray [HP:0030030](0|0) (0|0|0)
- 1:   Acromicria [HP:0031878](0|0) (0|0|0)
- 1:   Limb duplication [HP:0100524](0|0) (0|0|0)
- 1:   Subperiosteal bone resorption [HP:0003106](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
BRK domain-like0Direct
Notch domain0Direct
TB module/8-cys domain0Direct
WD40 repeat-like0.001638Inherited
Restriction endonuclease-like0.03483Inherited
Arginase/deacetylase0.03483Inherited
Insulin-like0.03483Inherited
ARID-like0.0412Inherited
GroEL equatorial domain-like0.08769Inherited
SCOP hierarchy in SUPERFAMILY0.09388Inherited
Tudor/PWWP/MBT0.1075Inherited
p53-like transcription factors0.164Inherited
Hemopexin-like domain0.1864Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.2254Inherited
PGBD-like0.3009Inherited
TPR-like0.4273Inherited
Concanavalin A-like lectins/glucanases0.4273Inherited
Cystine-knot cytokines0.5009Inherited
vWA-like0.5009Inherited
FnI-like domain0.5883Inherited
Hect, E3 ligase catalytic domain0.6215Inherited
Immunoglobulin0.6374Inherited
HLH, helix-loop-helix DNA-binding domain0.7952Inherited
Class II aaRS and biotin synthetases0.9132Inherited


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
VWC domain0.01252Inherited
Insulin-like0.0249Inherited
Sema domain0.02916Inherited
ARID domain0.02982Inherited
Integrin A (or I) domain0.04088Inherited
Fibronectin type II module0.06908Inherited
Classic zinc finger, C2H20.1138Inherited
Hemopexin-like domain0.1556Inherited
I set domains0.2574Inherited
Matrix metalloproteases, catalytic domain0.2632Inherited
MMP N-terminal domain0.2632Inherited
Homeodomain0.4022Inherited
Transforming growth factor (TGF)-beta0.4659Inherited
TSP-1 type 1 repeat0.5289Inherited
Hect, E3 ligase catalytic domain0.5636Inherited
RecA protein-like (ATPase-domain)0.7292Inherited
HLH, helix-loop-helix DNA-binding domain0.7461Inherited
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.8032Inherited


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-like0.0009304Direct
Arginase/deacetylase0.02519Inherited
Insulin-like0.02519Inherited
Restriction endonuclease-like0.02519Inherited
Sema domain0.02956Inherited
ARID-like0.03018Inherited
GroEL equatorial domain-like0.06867Inherited
Tudor/PWWP/MBT0.08551Inherited
p53-like transcription factors0.1355Inherited
Hemopexin-like domain0.1556Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.1916Inherited
PGBD-like0.2631Inherited
Concanavalin A-like lectins/glucanases0.3851Inherited
TPR-like0.3851Inherited
Cystine-knot cytokines0.4578Inherited
vWA-like0.4578Inherited
FnI-like domain0.5465Inherited
TSP-1 type 1 repeat0.5465Inherited
Hect, E3 ligase catalytic domain0.5805Inherited
Immunoglobulin0.5973Inherited
HLH, helix-loop-helix DNA-binding domain0.7612Inherited
E set domains0.7946Inherited
Class II aaRS and biotin synthetases0.8853Inherited

(show details)
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
    57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.0002299Direct
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.0009714Direct
    50729,50729
  • 50729 - PH domain-like
  • 50729 - PH domain-like
  • 0.009349Inherited
    103575,48726
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0.02519Inherited
    101912,103575
  • 101912 - Sema domain
  • 103575 - Plexin repeat
  • 0.02956Inherited
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0.03018Inherited
    81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.06867Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.06867Inherited
    47090,55486
  • 47090 - PGBD-like
  • 55486 - Metalloproteases ("zincins"), catalytic domain
  • 0.2631Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.2923Inherited
    57667,57667
  • 57667 - beta-beta-alpha zinc fingers
  • 57667 - beta-beta-alpha zinc fingers
  • 0.3743Inherited
    48452,48452
  • 48452 - TPR-like
  • 48452 - TPR-like
  • 0.6534Inherited

    (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
  • 0.0002299Direct
    101912,103575,48726
  • 101912 - Sema domain
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0.02519Inherited
    81296,81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.06867Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.08402Inherited


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