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Phenotypic Abnormality (PA): Abnormal appendicular skeleton 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 the skeletal system [HP:0000924] <7>(88|98) (93|55|34)
+ 1:   Abnormality of skeletal morphology [HP:0011842] <17>(86|89) (90|52|33)
0:   Abnormal appendicular skeleton morphology [HP:0011844] <4>(35|43) (39|23|23)
- 1:   Abnormality of long bone morphology [HP:0011314] <18>(6|10) (6|3|1)
- 1:   Abnormality of limb bone morphology [HP:0002813] <13>(29|32) (32|18|20)
- 1:   Abnormality of the shoulder [HP:0003043] <11>(0|0) (0|0|0)
- 1:   Abnormality of pelvic girdle bone morphology [HP:0002644] <7>(7|10) (8|3|1)


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

Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
Notch domain0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
TB module/8-cys domain0Direct
CalX-like0Direct
RuvA domain 2-like0Direct
Helical domain of Sec23/240Direct
Zn-finger domain of Sec23/240Direct
FnI-like domain0.01296Inherited
Hect, E3 ligase catalytic domain0.0199Inherited
SET domain0.02187Inherited
WD40 repeat-like0.03839Inherited
Arginase/deacetylase0.05293Inherited
Insulin-like0.05293Inherited
Hemopexin-like domain0.1169Inherited
HLH, helix-loop-helix DNA-binding domain0.1172Inherited
vWA-like0.1459Inherited
Histone-fold0.1496Inherited
ARID-like0.1496Inherited
Tropomyosin0.1914Inherited
PGBD-like0.1914Inherited
Cystine-knot cytokines0.1966Inherited
Restriction endonuclease-like0.2192Inherited
Multidrug efflux transporter AcrB transmembrane domain0.2192Inherited
GroEL equatorial domain-like0.2192Inherited
BRK domain-like0.2192Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.3175Inherited
Metalloproteases ("zincins"), catalytic domain0.3278Inherited
Concanavalin A-like lectins/glucanases0.4162Inherited
SNARE fusion complex0.4234Inherited
p53-like transcription factors0.6569Inherited
HMG-box0.6984Inherited
Immunoglobulin0.8817Inherited
Cytochrome P4500.9242Inherited
Class II aaRS and biotin synthetases0.9462Inherited
Voltage-gated potassium channels0.9807Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
Zn-finger domain of Sec23/240Direct
CalX-beta domain0Direct
Proteasome subunits0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
Helical domain of Sec23/240Direct
Notch domain0Direct
XPF/Rad1/Mus81 nuclease0Direct
Histone deacetylase, HDAC0Direct
Exostosin0Direct
TB module/8-cys domain0Direct
beta-sandwich domain of Sec23/240Direct
Trunk domain of Sec23/240Direct
Actin/HSP700.0003531Direct
Erythroid transcription factor GATA-10.002534Inherited
Transforming growth factor (TGF)-beta0.003526Inherited
Hect, E3 ligase catalytic domain0.01309Inherited
VWC domain0.02314Inherited
ZZ domain0.03845Inherited
Insulin-like0.03845Inherited
Growth factor receptor domain0.05736Inherited
PHD domain0.07744Inherited
Integrin A (or I) domain0.08437Inherited
HLH, helix-loop-helix DNA-binding domain0.08648Inherited
Hemopexin-like domain0.09014Inherited
Histone lysine methyltransferases0.09887Inherited
Fibronectin type II module0.09917Inherited
TSP-1 type 1 repeat0.09993Inherited
ARID domain0.1208Inherited
Inositol polyphosphate 5-phosphatase (IPP5)0.1208Inherited
Myosin rod fragments0.1403Inherited
Matrix metalloproteases, catalytic domain0.1552Inherited
Tropomyosin0.1552Inherited
MMP N-terminal domain0.1552Inherited
Tetratricopeptide repeat (TPR)0.1592Inherited
BRK domain-like0.184Inherited
RecA protein-like (ATPase-domain)0.1973Inherited
Clathrin adaptor core protein0.3785Inherited
SNARE fusion complex0.3785Inherited
Homeodomain0.4083Inherited
Classic zinc finger, C2H20.602Inherited
I set domains0.6303Inherited
HMG-box0.6566Inherited
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.8779Inherited


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
Notch domain0Direct
RuvA domain 2-like0Direct
TB module/8-cys domain0Direct
Helical domain of Sec23/240Direct
Zn-finger domain of Sec23/240Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
FnI-like domain0.00852Inherited
Hect, E3 ligase catalytic domain0.01352Inherited
SET domain0.01499Inherited
WD40 repeat-like0.02755Inherited
Insulin-like0.03924Inherited
Arginase/deacetylase0.03924Inherited
Nucleotide-diphospho-sugar transferases0.07777Inherited
Hemopexin-like domain0.09281Inherited
HLH, helix-loop-helix DNA-binding domain0.09315Inherited
TPR-like0.1079Inherited
vWA-like0.1189Inherited
Histone-fold0.1221Inherited
ARID-like0.1221Inherited
Myosin rod fragments0.1426Inherited
Tropomyosin0.1594Inherited
PGBD-like0.1594Inherited
Cystine-knot cytokines0.1641Inherited
BRK domain-like0.1849Inherited
Multidrug efflux transporter AcrB transmembrane domain0.1849Inherited
Restriction endonuclease-like0.1849Inherited
GroEL equatorial domain-like0.1849Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.2769Inherited
Metalloproteases ("zincins"), catalytic domain0.2868Inherited
Concanavalin A-like lectins/glucanases0.3725Inherited
SNARE fusion complex0.3796Inherited
p53-like transcription factors0.6162Inherited
HMG-box0.6595Inherited
Cysteine proteinases0.8098Inherited
Immunoglobulin0.8515Inherited
Cytochrome P4500.8967Inherited
Class II aaRS and biotin synthetases0.9203Inherited
Voltage-gated potassium channels0.9582Inherited

(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
    81811,82754
  • 81811 - Helical domain of Sec23/24
  • 82754 - C-terminal, gelsolin-like domain of Sec23/24
  • 0Direct
    52980,47781
  • 52980 - Restriction endonuclease-like
  • 47781 - RuvA domain 2-like
  • 0Direct
    82919,53300
  • 82919 - Zn-finger domain of Sec23/24
  • 53300 - vWA-like
  • 0Direct
    57196,57581
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    57196,90193
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    81995,81811
  • 81995 - beta-sandwich domain of Sec23/24
  • 81811 - Helical domain of Sec23/24
  • 0Direct
    141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    53300,81995
  • 53300 - vWA-like
  • 81995 - beta-sandwich domain of Sec23/24
  • 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
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.00852Inherited
    82199,57667
  • 82199 - SET domain
  • 57667 - beta-beta-alpha zinc fingers
  • 0.03924Inherited
    57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.1074Inherited
    50729,50729
  • 50729 - PH domain-like
  • 50729 - PH domain-like
  • 0.1221Inherited
    81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.1221Inherited
    47090,55486
  • 47090 - PGBD-like
  • 55486 - Metalloproteases ("zincins"), catalytic domain
  • 0.1594Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.1849Inherited
    103575,48726
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0.1849Inherited
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0.2769Inherited
    48452,48452
  • 48452 - TPR-like
  • 48452 - TPR-like
  • 0.2805Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.8039Inherited
    57667,57667
  • 57667 - beta-beta-alpha zinc fingers
  • 57667 - beta-beta-alpha zinc fingers
  • 0.9052Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    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
    53300,81995,81811
  • 53300 - vWA-like
  • 81995 - beta-sandwich domain of Sec23/24
  • 81811 - Helical domain of Sec23/24
  • 0Direct
    57196,57196,57581
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    57184,57184,57196
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0Direct
    141072,141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 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
    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
    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
    57184,57581,57184
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys 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
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 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
    81995,81811,82754
  • 81995 - beta-sandwich domain of Sec23/24
  • 81811 - Helical domain of Sec23/24
  • 82754 - C-terminal, gelsolin-like domain of Sec23/24
  • 0Direct
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.01352Inherited
    82199,57667,57667
  • 82199 - SET domain
  • 57667 - beta-beta-alpha zinc fingers
  • 57667 - beta-beta-alpha zinc fingers
  • 0.03924Inherited
    81296,81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.1221Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.1832Inherited
    101912,103575,48726
  • 101912 - Sema domain
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0.1849Inherited
    52540,52540,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.2769Inherited


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