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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] <18>(87|89) (90|49|32)
+ + 2:   Abnormality of limbs [HP:0040064] <8>(57|64) (59|32|25)
+ + 2:   Abnormality of the skeletal system [HP:0000924] <7>(89|98) (94|51|33)
+ 1:   Abnormal appendicular skeleton morphology [HP:0011844] <4>(35|41) (38|23|23)
+ 1:   Abnormality of limb bone [HP:0040068] <1>(28|30) (30|18|20)
0:   Abnormality of limb bone morphology [HP:0002813] <13>(28|30) (30|18|20)
- 1:   Abnormality of the metaphysis [HP:0000944] <19>(2|5) (2|1|0)
- 1:   Abnormal digit morphology [HP:0011297] <10>(16|19) (17|14|16)
- 1:   Abnormal lower limb bone morphology [HP:0040069] <10>(10|8) (11|5|6)
- 1:   Anomaly of the limb diaphyses [HP:0006504] <6>(0|0) (0|0|0)
- 1:   Abnormal upper limb bone morphology [HP:0040070] <5>(4|4) (6|2|1)
- 1:   Aplasia/hypoplasia involving bones of the extremities [HP:0045060] <3>(7|8) (8|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)
CalX-like0Direct
Notch domain0Direct
TB module/8-cys domain0Direct
RuvA domain 2-like0Direct
WD40 repeat-like0.001265Inherited
SET domain0.005844Inherited
BRK domain-like0.0414Inherited
Arginase/deacetylase0.0414Inherited
Restriction endonuclease-like0.0414Inherited
Insulin-like0.0414Inherited
Histone-fold0.0498Inherited
ARID-like0.0498Inherited
Hemopexin-like domain0.08693Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.09555Inherited
GroEL equatorial domain-like0.1011Inherited
Multidrug efflux transporter AcrB transmembrane domain0.1011Inherited
PGBD-like0.1516Inherited
SCOP hierarchy in SUPERFAMILY0.1541Inherited
p53-like transcription factors0.244Inherited
Concanavalin A-like lectins/glucanases0.3983Inherited
Cystine-knot cytokines0.5343Inherited
vWA-like0.5343Inherited
FnI-like domain0.6173Inherited
Hect, E3 ligase catalytic domain0.6489Inherited
Immunoglobulin0.7722Inherited
HLH, helix-loop-helix DNA-binding domain0.803Inherited
Class II aaRS and biotin synthetases0.9559Inherited
Voltage-gated potassium channels0.979Inherited


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Family

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SCOP termFDR (all)Annotation (direct or inherited)
Proteasome subunits0Direct
XPF/Rad1/Mus81 nuclease0Direct
Histone deacetylase, HDAC0Direct
Exostosin0Direct
Notch domain0Direct
TB module/8-cys domain0Direct
CalX-beta domain0Direct
Actin/HSP700.0005043Direct
Erythroid transcription factor GATA-10.001459Inherited
PHD domain0.008044Inherited
VWC domain0.01546Inherited
Insulin-like0.02901Inherited
BRK domain-like0.02901Inherited
ZZ domain0.02901Inherited
ARID domain0.03539Inherited
Classic zinc finger, C2H20.03583Inherited
Integrin A (or I) domain0.05224Inherited
Hemopexin-like domain0.06481Inherited
Fibronectin type II module0.0777Inherited
Matrix metalloproteases, catalytic domain0.1195Inherited
MMP N-terminal domain0.1195Inherited
I set domains0.4105Inherited
Homeodomain0.4205Inherited
Tetratricopeptide repeat (TPR)0.4629Inherited
Transforming growth factor (TGF)-beta0.4902Inherited
TSP-1 type 1 repeat0.5524Inherited
Hect, E3 ligase catalytic domain0.5859Inherited
HLH, helix-loop-helix DNA-binding domain0.7459Inherited
RecA protein-like (ATPase-domain)0.7465Inherited
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.8649Inherited


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)
CalX-like0Direct
RuvA domain 2-like0Direct
TB module/8-cys domain0Direct
Notch domain0Direct
WD40 repeat-like0.0006995Direct
SET domain0.003658Inherited
BRK domain-like0.03012Inherited
Insulin-like0.03012Inherited
Arginase/deacetylase0.03012Inherited
Restriction endonuclease-like0.03012Inherited
Histone-fold0.03707Inherited
ARID-like0.03707Inherited
Hemopexin-like domain0.06778Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.07518Inherited
GroEL equatorial domain-like0.08004Inherited
Multidrug efflux transporter AcrB transmembrane domain0.08004Inherited
PGBD-like0.1245Inherited
p53-like transcription factors0.2087Inherited
TPR-like0.3374Inherited
Concanavalin A-like lectins/glucanases0.3562Inherited
Nucleotide-diphospho-sugar transferases0.419Inherited
Cysteine proteinases0.4593Inherited
Cystine-knot cytokines0.4913Inherited
vWA-like0.4913Inherited
FnI-like domain0.5772Inherited
Hect, E3 ligase catalytic domain0.6095Inherited
Immunoglobulin0.7367Inherited
HLH, helix-loop-helix DNA-binding domain0.7692Inherited
Class II aaRS and biotin synthetases0.9307Inherited
Voltage-gated potassium channels0.9564Inherited

(show details)
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
    57581,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    52980,47781
  • 52980 - Restriction endonuclease-like
  • 47781 - RuvA domain 2-like
  • 0Direct
    141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    57196,57581
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    57196,90193
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.0003897Direct
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.001629Inherited
    103575,48726
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0.03012Inherited
    81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.03707Inherited
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0.03707Inherited
    50729,50729
  • 50729 - PH domain-like
  • 50729 - PH domain-like
  • 0.07518Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.08004Inherited
    47090,55486
  • 47090 - PGBD-like
  • 55486 - Metalloproteases ("zincins"), catalytic domain
  • 0.1245Inherited
    57667,57667
  • 57667 - beta-beta-alpha zinc fingers
  • 57667 - beta-beta-alpha zinc fingers
  • 0.2341Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.4044Inherited
    48452,48452
  • 48452 - TPR-like
  • 48452 - TPR-like
  • 0.6095Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    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
    57184,57581,57184
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57196,57581,57196
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 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
    57184,57184,57581
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    57581,57196,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 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
    57196,57581,57184
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0Direct
    57196,57184,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    141072,141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 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
  • 0.0003897Direct
    101912,103575,48726
  • 101912 - Sema domain
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0.03012Inherited
    81296,81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.03707Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.09035Inherited
    52540,52540,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.1245Inherited


    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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