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Phenotypic Abnormality (PA): Abnormal axial 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 axial skeleton morphology [HP:0009121] <6>(47|61) (51|30|26)
- 1:   Abnormality of the vertebral column [HP:0000925] <20>(22|27) (25|11|10)
- 1:   Abnormal skull morphology [HP:0000929] <14>(25|38) (28|22|20)
- 1:   Abnormality of the thorax [HP:0000765] <12>(13|18) (14|8|7)
- 1:   Disproportionate short-trunk short stature [HP:0003521] <4>(0|0) (0|0|0)
- 1:   Aplasia/hypoplasia affecting bones of the axial skeleton [HP:0009122] <3>(4|1) (4|2|1)
- 1:   Supernumerary bones of the axial skeleton [HP:0009144] <2>(0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
Notch domain0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
Tricorn protease domain 20Direct
L27 domain0Direct
PUA domain-like0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
SNARE fusion complex0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
ADC-like0Direct
TB module/8-cys domain0Direct
Restriction endonuclease-like0Direct
RuvA domain 2-like0Direct
Helical domain of Sec23/240Direct
Pseudouridine synthase0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
FKBP-like0Direct
Smc hinge domain0Direct
4Fe-4S ferredoxins0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
Zn-finger domain of Sec23/240Direct
CCCH zinc finger0Direct
BRK domain-like0Direct
Actin-like ATPase domain0.002664Inherited
Ribonuclease H-like0.01203Inherited
beta-sandwich domain of Sec23/240.02328Inherited
Homeodomain-like0.03616Inherited
ARID-like0.06208Inherited
Nucleotide-diphospho-sugar transferases0.08188Inherited
p53-like transcription factors0.09225Inherited
Alkaline phosphatase-like0.1443Inherited
HMG-box0.1646Inherited
"Winged helix" DNA-binding domain0.1988Inherited
WD40 repeat-like0.2018Inherited
HLH, helix-loop-helix DNA-binding domain0.2521Inherited
Tropomyosin0.2709Inherited
Galactose-binding domain-like0.3212Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.3233Inherited
NagB/RpiA/CoA transferase-like0.3667Inherited
Calponin-homology domain, CH-domain0.4056Inherited
GST C-terminal domain-like0.512Inherited
Cystine-knot cytokines0.5459Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.6064Inherited
Nicotinic receptor ligand binding domain-like0.6064Inherited
MIR domain0.6227Inherited
Myosin rod fragments0.744Inherited
(Trans)glycosidases0.8959Inherited
MHC antigen-recognition domain1Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
CCCH zinc finger0Direct
Zn-finger domain of Sec23/240Direct
Myotubularin-like phosphatases0Direct
Ferredoxin domains from multidomain proteins0Direct
Protein serine/threonine phosphatase0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
L27 domain0Direct
Helical domain of Sec23/240Direct
N-acetyl transferase, NAT0Direct
Clathrin adaptor core protein0Direct
Glycosyl transferases group 10Direct
SNARE fusion complex0Direct
BRK domain-like0Direct
SWIRM domain0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
Notch domain0Direct
Smc hinge domain0Direct
XPF/Rad1/Mus81 nuclease0Direct
FKBP immunophilin/proline isomerase0Direct
Histone deacetylase, HDAC0Direct
Ubiquitin carboxyl-terminal hydrolase, UCH0Direct
Exostosin0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Inositol polyphosphate 5-phosphatase (IPP5)0Direct
Ferredoxin reductase FAD-binding domain-like0Direct
TB module/8-cys domain0Direct
beta-sandwich domain of Sec23/240Direct
Trunk domain of Sec23/240Direct
DNA polymerase I0Direct
IF2B-like0Direct
PHD domain0.003043Inherited
Histone lysine methyltransferases0.004654Inherited
Actin/HSP700.008418Inherited
Bromodomain0.02915Inherited
ARID domain0.04501Inherited
Elongation factors0.05089Inherited
Homeodomain0.05712Inherited
G proteins0.06967Inherited
VWC domain0.1233Inherited
HMG-box0.1271Inherited
beta-glycanases0.128Inherited
Class I aminoacyl-tRNA synthetases (RS), catalytic domain0.1637Inherited
Ras-binding domain, RBD0.1873Inherited
HLH, helix-loop-helix DNA-binding domain0.1977Inherited
Tropomyosin0.2247Inherited
Arylsulfatase0.2517Inherited
Calponin-homology domain, CH-domain0.3467Inherited
RecA protein-like (ATPase-domain)0.4048Inherited
I set domains0.4585Inherited
Transforming growth factor (TGF)-beta0.4587Inherited
Regulator of chromosome condensation RCC10.4595Inherited
Erythroid transcription factor GATA-10.4595Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.5485Inherited
Nicotinic receptor ligand binding domain-like0.5485Inherited
MIR domain0.5736Inherited
Myosin rod fragments0.6987Inherited
Integrin A (or I) domain0.7996Inherited
Globins0.8639Inherited
Cadherin0.9444Inherited
MHC antigen-recognition domain0.9953Inherited
C1 set domains (antibody constant domain-like)0.9998Inherited


Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term
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Supra-domain (including individual superfamily)

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Supra-domain (Single) FDR (all) Annotation (direct or inherited)
Acyl-CoA N-acyltransferases (Nat)0Direct
Smc hinge domain0Direct
BRK domain-like0Direct
Notch domain0Direct
Tricorn protease domain 20Direct
Pseudouridine synthase0Direct
Restriction endonuclease-like0Direct
RuvA domain 2-like0Direct
TB module/8-cys domain0Direct
PUA domain-like0Direct
Helical domain of Sec23/240Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
SNARE fusion complex0Direct
Zn-finger domain of Sec23/240Direct
4Fe-4S ferredoxins0Direct
L27 domain0Direct
FKBP-like0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
ADC-like0Direct
CCCH zinc finger0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
Actin-like ATPase domain0.001527Inherited
Ribonuclease H-like0.007844Inherited
beta-sandwich domain of Sec23/240.01604Inherited
Homeodomain-like0.02589Inherited
Bromodomain0.03193Inherited
ARID-like0.04675Inherited
Nucleotide-diphospho-sugar transferases0.06323Inherited
p53-like transcription factors0.07189Inherited
GroEL equatorial domain-like0.07861Inherited
Alkaline phosphatase-like0.1175Inherited
HMG-box0.135Inherited
"Winged helix" DNA-binding domain0.1661Inherited
WD40 repeat-like0.1689Inherited
Concanavalin A-like lectins/glucanases0.1799Inherited
HLH, helix-loop-helix DNA-binding domain0.2153Inherited
Tropomyosin0.2328Inherited
Galactose-binding domain-like0.2805Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.2825Inherited
NagB/RpiA/CoA transferase-like0.3242Inherited
Calponin-homology domain, CH-domain0.3622Inherited
GST C-terminal domain-like0.4675Inherited
Cystine-knot cytokines0.502Inherited
Nicotinic receptor ligand binding domain-like0.5642Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.5642Inherited
MIR domain0.5813Inherited
Myosin rod fragments0.7065Inherited
Globin-like0.8612Inherited
(Trans)glycosidases0.8662Inherited
MHC antigen-recognition domain0.9833Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
53098,56672
  • 53098 - Ribonuclease H-like
  • 56672 - DNA/RNA polymerases
  • 0Direct
    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
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0Direct
    57889,48350
  • 57889 - Cysteine-rich domain
  • 48350 - GTPase activation domain, GAP
  • 0Direct
    57196,57581
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    64268,50044
  • 64268 - PX domain
  • 50044 - SH3-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
    50447,50465
  • 50447 - Translation proteins
  • 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain
  • 0Direct
    63380,52343
  • 63380 - Riboflavin synthase domain-like
  • 52343 - Ferredoxin reductase-like, C-terminal NADP-linked domain
  • 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
    53822,53850
  • 53822 - Periplasmic binding protein-like I
  • 53850 - Periplasmic binding protein-like II
  • 0Direct
    57581,57184
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    53067,53067
  • 53067 - Actin-like ATPase domain
  • 53067 - Actin-like ATPase domain
  • 0.00462Inherited
    49899,57196
  • 49899 - Concanavalin A-like lectins/glucanases
  • 57196 - EGF/Laminin
  • 0.0275Inherited
    54160,54160
  • 54160 - Chromo domain-like
  • 54160 - Chromo domain-like
  • 0.04675Inherited
    54160,52540
  • 54160 - Chromo domain-like
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.04675Inherited
    52540,50447
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 0.05357Inherited
    50978,50978
  • 50978 - WD40 repeat-like
  • 50978 - WD40 repeat-like
  • 0.1637Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.2513Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.5642Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.6006Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.7339Inherited
    57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.8279Inherited
    49313,49313
  • 49313 - Cadherin-like
  • 49313 - Cadherin-like
  • 0.9383Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.9833Inherited

    (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
    52540,50447,50465
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal 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
    63825,57196,63825
  • 63825 - YWTD domain
  • 57196 - EGF/Laminin
  • 63825 - YWTD domain
  • 0Direct
    57581,57196,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0Direct
    49899,49899,57196
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 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
    54160,54160,52540
  • 54160 - Chromo domain-like
  • 54160 - Chromo domain-like
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.04675Inherited
    54160,52540,52540
  • 54160 - Chromo domain-like
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.04675Inherited
    52540,52540,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.08329Inherited
    57184,57196,57196
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.2328Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.2328Inherited
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.2842Inherited
    57196,57184,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.414Inherited
    49313,49313,49313
  • 49313 - Cadherin-like
  • 49313 - Cadherin-like
  • 49313 - Cadherin-like
  • 0.9383Inherited


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