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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] <17>(86|89) (90|52|33)
+ + 2:   Abnormality of the skeletal system [HP:0000924] <7>(88|98) (93|54|34)
+ + 2:   Abnormality of limbs [HP:0040064] <8>(58|65) (63|33|25)
+ 1:   Abnormality of limb bone [HP:0040068] <1>(29|31) (33|18|20)
+ 1:   Abnormal appendicular skeleton morphology [HP:0011844] <4>(35|42) (39|23|23)
0:   Abnormality of limb bone morphology [HP:0002813] <13>(29|31) (32|18|20)
- 1:   Abnormality of the metaphysis [HP:0000944] <19>(2|5) (2|1|0)
- 1:   Abnormal digit morphology [HP:0011297] <10>(16|20) (18|14|16)
- 1:   Abnormal lower limb bone morphology [HP:0040069] <10>(11|9) (12|5|6)
- 1:   Anomaly of the limb diaphyses [HP:0006504] <6>(0|1) (0|0|0)
- 1:   Abnormal upper limb bone morphology [HP:0040070] <5>(5|4) (6|2|1)
- 1:   Aplasia/hypoplasia involving bones of the extremities [HP:0045060] <3>(7|8) (9|3|5)
- 1:   Abnormality of limb epiphysis morphology [HP:0006505] <2>(2|1) (2|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)
Notch domain0Direct
TB module/8-cys domain0Direct
RuvA domain 2-like0Direct
CalX-like0Direct
WD40 repeat-like0.00144Inherited
SET domain0.00329Inherited
Restriction endonuclease-like0.04319Inherited
Arginase/deacetylase0.04319Inherited
BRK domain-like0.04319Inherited
Insulin-like0.04319Inherited
ARID-like0.0524Inherited
Histone-fold0.0524Inherited
Hemopexin-like domain0.09121Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.09974Inherited
Multidrug efflux transporter AcrB transmembrane domain0.1051Inherited
GroEL equatorial domain-like0.1051Inherited
PGBD-like0.1581Inherited
Metalloproteases ("zincins"), catalytic domain0.1649Inherited
HMG-box0.2844Inherited
p53-like transcription factors0.2963Inherited
Concanavalin A-like lectins/glucanases0.4052Inherited
Cystine-knot cytokines0.541Inherited
vWA-like0.541Inherited
FnI-like domain0.6239Inherited
Hect, E3 ligase catalytic domain0.6553Inherited
Immunoglobulin0.7762Inherited
HLH, helix-loop-helix DNA-binding domain0.8097Inherited
Voltage-gated potassium channels0.9363Inherited
Class II aaRS and biotin synthetases0.9731Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
Notch domain0Direct
XPF/Rad1/Mus81 nuclease0Direct
TB module/8-cys domain0Direct
Histone deacetylase, HDAC0Direct
Proteasome subunits0Direct
Exostosin0Direct
CalX-beta domain0Direct
Actin/HSP700.000181Direct
Erythroid transcription factor GATA-10.001551Inherited
PHD domain0.004643Inherited
VWC domain0.01617Inherited
Insulin-like0.0299Inherited
ZZ domain0.0299Inherited
BRK domain-like0.0299Inherited
ARID domain0.03671Inherited
Classic zinc finger, C2H20.04811Inherited
Integrin A (or I) domain0.05496Inherited
Hemopexin-like domain0.06724Inherited
Fibronectin type II module0.0799Inherited
MMP N-terminal domain0.1231Inherited
Matrix metalloproteases, catalytic domain0.1231Inherited
HMG-box0.2293Inherited
Tetratricopeptide repeat (TPR)0.4667Inherited
Growth factor receptor domain0.4667Inherited
I set domains0.4909Inherited
Transforming growth factor (TGF)-beta0.4945Inherited
TSP-1 type 1 repeat0.5554Inherited
Hect, E3 ligase catalytic domain0.5896Inherited
RecA protein-like (ATPase-domain)0.749Inherited
HLH, helix-loop-helix DNA-binding domain0.7492Inherited
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.898Inherited


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
Notch domain0Direct
RuvA domain 2-like0Direct
CalX-like0Direct
WD40 repeat-like0.0007867Direct
SET domain0.001926Inherited
Insulin-like0.0313Inherited
Restriction endonuclease-like0.0313Inherited
Arginase/deacetylase0.0313Inherited
BRK domain-like0.0313Inherited
ARID-like0.03882Inherited
Histone-fold0.03882Inherited
Hemopexin-like domain0.07112Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.07836Inherited
Multidrug efflux transporter AcrB transmembrane domain0.0829Inherited
GroEL equatorial domain-like0.0829Inherited
PGBD-like0.1294Inherited
Metalloproteases ("zincins"), catalytic domain0.1354Inherited
HMG-box0.2457Inherited
p53-like transcription factors0.2566Inherited
TPR-like0.3432Inherited
Concanavalin A-like lectins/glucanases0.3619Inherited
Nucleotide-diphospho-sugar transferases0.4246Inherited
vWA-like0.4969Inherited
Cystine-knot cytokines0.4969Inherited
Cysteine proteinases0.5213Inherited
FnI-like domain0.5824Inherited
Hect, E3 ligase catalytic domain0.6147Inherited
Immunoglobulin0.7396Inherited
HLH, helix-loop-helix DNA-binding domain0.7751Inherited
Voltage-gated potassium channels0.9096Inherited
Class II aaRS and biotin synthetases0.9498Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
57196,57581
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    57581,57184
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57581,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    57184,57581
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    52980,47781
  • 52980 - Restriction endonuclease-like
  • 47781 - RuvA domain 2-like
  • 0Direct
    57196,90193
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.00158Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.001825Inherited
    103575,48726
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0.0313Inherited
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0.03882Inherited
    81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.03882Inherited
    50729,50729
  • 50729 - PH domain-like
  • 50729 - PH domain-like
  • 0.07836Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.0829Inherited
    47090,55486
  • 47090 - PGBD-like
  • 55486 - Metalloproteases ("zincins"), catalytic domain
  • 0.1294Inherited
    57667,57667
  • 57667 - beta-beta-alpha zinc fingers
  • 57667 - beta-beta-alpha zinc fingers
  • 0.2784Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.3924Inherited
    48452,48452
  • 48452 - TPR-like
  • 48452 - TPR-like
  • 0.6147Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    57196,57196,90193
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    141072,141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 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
    57184,57184,57581
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    57184,57581,57196
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    57184,57581,57184
  • 57184 - Growth factor receptor domain
  • 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
    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
    57196,57196,57581
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    57196,57184,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57184,57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.0004376Direct
    101912,103575,48726
  • 101912 - Sema domain
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0.0313Inherited
    81296,81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.03882Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.07222Inherited
    52540,52540,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.1294Inherited


    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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