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Phenotypic Abnormality (PA): Abnormal appendicular skeleton morphology

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

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>(87|94) (95|55|32)
+ 1:   Abnormality of skeletal morphology [HP:0011842] <19>(82|83) (88|48|29)
0:   Abnormal appendicular skeleton morphology [HP:0011844] <4>(33|39) (37|23|21)
- 1:   Abnormality of long bone morphology [HP:0011314] <18>(6|9) (8|2|0)
- 1:   Abnormality of limb bone morphology [HP:0002813] <13>(25|27) (27|18|18)
- 1:   Abnormality of the shoulder [HP:0003043] <11>(0|0) (0|0|0)
- 1:   Abnormality of pelvic girdle bone morphology [HP:0002644] <7>(8|10) (10|3|1)


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

Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
RuvA domain 2-like0Direct
Helical domain of Sec23/240Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
Notch domain0Direct
BRK domain-like0Direct
Zn-finger domain of Sec23/240Direct
TB module/8-cys domain0Direct
FnI-like domain0.008372Inherited
Hect, E3 ligase catalytic domain0.01353Inherited
SET domain0.02106Inherited
WD40 repeat-like0.04009Inherited
Insulin-like0.04395Inherited
Arginase/deacetylase0.04395Inherited
vWA-like0.06352Inherited
Alkaline phosphatase-like0.06836Inherited
ARID-like0.1266Inherited
HLH, helix-loop-helix DNA-binding domain0.1336Inherited
SCOP hierarchy in SUPERFAMILY0.1444Inherited
Tropomyosin0.1619Inherited
Cystine-knot cytokines0.1848Inherited
GroEL equatorial domain-like0.1919Inherited
Restriction endonuclease-like0.1919Inherited
Hemopexin-like domain0.2755Inherited
Tudor/PWWP/MBT0.2924Inherited
SNARE fusion complex0.3795Inherited
PGBD-like0.3795Inherited
p53-like transcription factors0.4001Inherited
TPR-like0.4045Inherited
Concanavalin A-like lectins/glucanases0.4752Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.5486Inherited
Immunoglobulin0.7198Inherited
Cytochrome P4500.8269Inherited
Class II aaRS and biotin synthetases0.8623Inherited


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
Helical domain of Sec23/240Direct
Proteasome subunits0Direct
XPF/Rad1/Mus81 nuclease0Direct
Exostosin0Direct
Trunk domain of Sec23/240Direct
Notch domain0Direct
BRK domain-like0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
beta-sandwich domain of Sec23/240Direct
TB module/8-cys domain0Direct
Histone deacetylase, HDAC0Direct
Actin/HSP700.0006734Direct
Erythroid transcription factor GATA-10.001863Inherited
Transforming growth factor (TGF)-beta0.004587Inherited
Hect, E3 ligase catalytic domain0.009291Inherited
VWC domain0.01848Inherited
Insulin-like0.03257Inherited
TSP-1 type 1 repeat0.05702Inherited
Integrin A (or I) domain0.06603Inherited
Histone lysine methyltransferases0.0801Inherited
Fibronectin type II module0.08704Inherited
Inositol polyphosphate 5-phosphatase (IPP5)0.1041Inherited
ARID domain0.1041Inherited
HLH, helix-loop-helix DNA-binding domain0.1108Inherited
Myosin rod fragments0.1173Inherited
Tropomyosin0.1357Inherited
MIR domain0.1554Inherited
RecA protein-like (ATPase-domain)0.1702Inherited
Sema domain0.1702Inherited
Hemopexin-like domain0.2429Inherited
Homeodomain0.3412Inherited
Clathrin adaptor core protein0.3428Inherited
Matrix metalloproteases, catalytic domain0.3428Inherited
MMP N-terminal domain0.3428Inherited
SNARE fusion complex0.3428Inherited
I set domains0.3776Inherited
Classic zinc finger, C2H20.6008Inherited
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.7654Inherited


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
RuvA domain 2-like0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
TB module/8-cys domain0Direct
Helical domain of Sec23/240Direct
Zn-finger domain of Sec23/240Direct
BRK domain-like0Direct
FnI-like domain0.005433Inherited
Hect, E3 ligase catalytic domain0.009029Inherited
SET domain0.01458Inherited
WD40 repeat-like0.0293Inherited
Insulin-like0.03232Inherited
Arginase/deacetylase0.03232Inherited
vWA-like0.04836Inherited
Alkaline phosphatase-like0.05235Inherited
TSP-1 type 1 repeat0.05563Inherited
ARID-like0.1021Inherited
HLH, helix-loop-helix DNA-binding domain0.1085Inherited
Myosin rod fragments0.1152Inherited
Tropomyosin0.1336Inherited
MIR domain0.1531Inherited
Cystine-knot cytokines0.1541Inherited
Restriction endonuclease-like0.1607Inherited
GroEL equatorial domain-like0.1607Inherited
Sema domain0.1664Inherited
Hemopexin-like domain0.2384Inherited
Tudor/PWWP/MBT0.2548Inherited
PGBD-like0.3386Inherited
SNARE fusion complex0.3386Inherited
p53-like transcription factors0.3587Inherited
TPR-like0.3629Inherited
Concanavalin A-like lectins/glucanases0.4324Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.5058Inherited
Immunoglobulin0.682Inherited
Cytochrome P4500.7945Inherited
Class II aaRS and biotin synthetases0.8313Inherited
E set domains0.9474Inherited

(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
    57581,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    52980,47781
  • 52980 - Restriction endonuclease-like
  • 47781 - RuvA domain 2-like
  • 0Direct
    81995,81811
  • 81995 - beta-sandwich domain of Sec23/24
  • 81811 - Helical domain of Sec23/24
  • 0Direct
    57196,90193
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    53300,81995
  • 53300 - vWA-like
  • 81995 - beta-sandwich domain of Sec23/24
  • 0Direct
    57196,57581
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    81811,82754
  • 81811 - Helical domain of Sec23/24
  • 82754 - C-terminal, gelsolin-like domain of Sec23/24
  • 0Direct
    82919,53300
  • 82919 - Zn-finger domain of Sec23/24
  • 53300 - vWA-like
  • 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
  • 0.005433Inherited
    82199,57667
  • 82199 - SET domain
  • 57667 - beta-beta-alpha zinc fingers
  • 0.03232Inherited
    57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.03449Inherited
    50729,50729
  • 50729 - PH domain-like
  • 50729 - PH domain-like
  • 0.1021Inherited
    103575,48726
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0.1607Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.1607Inherited
    81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.1607Inherited
    101912,103575
  • 101912 - Sema domain
  • 103575 - Plexin repeat
  • 0.1664Inherited
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0.2384Inherited
    47090,55486
  • 47090 - PGBD-like
  • 55486 - Metalloproteases ("zincins"), catalytic domain
  • 0.3386Inherited
    48452,48452
  • 48452 - TPR-like
  • 48452 - TPR-like
  • 0.4713Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.6418Inherited
    57667,57667
  • 57667 - beta-beta-alpha zinc fingers
  • 57667 - beta-beta-alpha zinc fingers
  • 0.8959Inherited

    (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
    53300,81995,81811
  • 53300 - vWA-like
  • 81995 - beta-sandwich domain of Sec23/24
  • 81811 - Helical domain of Sec23/24
  • 0Direct
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 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
    57581,57196,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0Direct
    57184,57184,57184
  • 57184 - Growth factor receptor domain
  • 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
    57184,57581,57196
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 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
    57196,57196,90193
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    57196,57184,57184
  • 57196 - EGF/Laminin
  • 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
    57581,57196,57581
  • 57581 - TB module/8-cys domain
  • 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
    57184,57184,57196
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0Direct
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.009029Inherited
    82199,57667,57667
  • 82199 - SET domain
  • 57667 - beta-beta-alpha zinc fingers
  • 57667 - beta-beta-alpha zinc fingers
  • 0.03232Inherited
    101912,103575,48726
  • 101912 - Sema domain
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0.1607Inherited
    81296,81296,81296
  • 81296 - E set domains
  • 81296 - E set domains
  • 81296 - E set domains
  • 0.1607Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.1892Inherited


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