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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>(89|98) (94|51|33)
+ 1:   Abnormality of skeletal morphology [HP:0011842] <18>(87|89) (90|49|32)
0:   Abnormal axial skeleton morphology [HP:0009121] <6>(48|61) (53|28|26)
- 1:   Abnormality of the vertebral column [HP:0000925] <20>(21|27) (25|11|10)
- 1:   Abnormal skull morphology [HP:0000929] <14>(27|38) (30|20|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)
PUA domain-like0Direct
Notch domain0Direct
BRK domain-like0Direct
SNARE fusion complex0Direct
L27 domain0Direct
Zn-finger domain of Sec23/240Direct
FKBP-like0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
Tricorn protease domain 20Direct
Restriction endonuclease-like0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Pseudouridine synthase0Direct
4Fe-4S ferredoxins0Direct
TB module/8-cys domain0Direct
CCCH zinc finger0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
RuvA domain 2-like0Direct
Helical domain of Sec23/240Direct
ADC-like0Direct
Smc hinge domain0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
Actin-like ATPase domain0.003987Inherited
Homeodomain-like0.03287Inherited
Ribonuclease H-like0.04382Inherited
ARID-like0.05956Inherited
Nucleotide-diphospho-sugar transferases0.07839Inherited
p53-like transcription factors0.09915Inherited
beta-sandwich domain of Sec23/240.1014Inherited
Alkaline phosphatase-like0.1374Inherited
HMG-box0.1784Inherited
"Winged helix" DNA-binding domain0.1832Inherited
HLH, helix-loop-helix DNA-binding domain0.238Inherited
Tropomyosin0.2621Inherited
Galactose-binding domain-like0.307Inherited
WD40 repeat-like0.3113Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.3122Inherited
NagB/RpiA/CoA transferase-like0.358Inherited
Calponin-homology domain, CH-domain0.396Inherited
GST C-terminal domain-like0.5044Inherited
Cystine-knot cytokines0.5344Inherited
MIR domain0.6131Inherited
Myosin rod fragments0.736Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.831Inherited
Nicotinic receptor ligand binding domain-like0.831Inherited
(Trans)glycosidases0.8896Inherited
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)
XPF/Rad1/Mus81 nuclease0Direct
Ferredoxin domains from multidomain proteins0Direct
Helical domain of Sec23/240Direct
Smc hinge domain0Direct
TB module/8-cys domain0Direct
beta-sandwich domain of Sec23/240Direct
Ferredoxin reductase FAD-binding domain-like0Direct
Notch domain0Direct
BRK domain-like0Direct
Trunk domain of Sec23/240Direct
Ypt/Rab-GAP domain of gyp1p0Direct
Zn-finger domain of Sec23/240Direct
Glycosyl transferases group 10Direct
tRNA-intron endonuclease catalytic domain-like0Direct
SNARE fusion complex0Direct
Clathrin adaptor core protein0Direct
IF2B-like0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
N-acetyl transferase, NAT0Direct
CCCH zinc finger0Direct
L27 domain0Direct
Histone deacetylase, HDAC0Direct
FKBP immunophilin/proline isomerase0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Ubiquitin carboxyl-terminal hydrolase, UCH0Direct
Exostosin0Direct
SWIRM domain0Direct
Myotubularin-like phosphatases0Direct
Inositol polyphosphate 5-phosphatase (IPP5)0Direct
Protein serine/threonine phosphatase0Direct
PHD domain0.004307Inherited
Histone lysine methyltransferases0.004317Inherited
Actin/HSP700.01415Inherited
Bromodomain0.02723Inherited
ARID domain0.04327Inherited
Homeodomain0.05271Inherited
T-box0.06099Inherited
G proteins0.0797Inherited
VWC domain0.1189Inherited
beta-glycanases0.1247Inherited
HMG-box0.1395Inherited
Class I aminoacyl-tRNA synthetases (RS), catalytic domain0.1587Inherited
Ras-binding domain, RBD0.1821Inherited
HLH, helix-loop-helix DNA-binding domain0.1868Inherited
Tropomyosin0.2179Inherited
Arylsulfatase0.2436Inherited
Calponin-homology domain, CH-domain0.3376Inherited
RecA protein-like (ATPase-domain)0.3979Inherited
I set domains0.4389Inherited
Transforming growth factor (TGF)-beta0.4502Inherited
Regulator of chromosome condensation RCC10.4529Inherited
Erythroid transcription factor GATA-10.4529Inherited
MIR domain0.5646Inherited
Myosin rod fragments0.6907Inherited
Nicotinic receptor ligand binding domain-like0.7924Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.7924Inherited
Integrin A (or I) domain0.7924Inherited
Globins0.8592Inherited
Cadherin0.9396Inherited
MHC antigen-recognition domain0.9938Inherited
C1 set domains (antibody constant domain-like)0.998Inherited


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)
BRK domain-like0Direct
SNARE fusion complex0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
Helical domain of Sec23/240Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
ADC-like0Direct
Smc hinge domain0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
Restriction endonuclease-like0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
TB module/8-cys domain0Direct
Notch domain0Direct
Zn-finger domain of Sec23/240Direct
CCCH zinc finger0Direct
Tricorn protease domain 20Direct
L27 domain0Direct
4Fe-4S ferredoxins0Direct
RuvA domain 2-like0Direct
PUA domain-like0Direct
Pseudouridine synthase0Direct
FKBP-like0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
Actin-like ATPase domain0.002417Inherited
Homeodomain-like0.02351Inherited
Bromodomain0.02996Inherited
Ribonuclease H-like0.03213Inherited
ARID-like0.04509Inherited
Nucleotide-diphospho-sugar transferases0.06056Inherited
GroEL equatorial domain-like0.07634Inherited
p53-like transcription factors0.07835Inherited
beta-sandwich domain of Sec23/240.08026Inherited
Nucleotidylyl transferase0.1015Inherited
Alkaline phosphatase-like0.112Inherited
HMG-box0.1481Inherited
"Winged helix" DNA-binding domain0.1526Inherited
Concanavalin A-like lectins/glucanases0.1726Inherited
HLH, helix-loop-helix DNA-binding domain0.2032Inherited
Tropomyosin0.2257Inherited
Galactose-binding domain-like0.2683Inherited
WD40 repeat-like0.2726Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.2734Inherited
NagB/RpiA/CoA transferase-like0.317Inherited
Calponin-homology domain, CH-domain0.3541Inherited
GST C-terminal domain-like0.461Inherited
Cystine-knot cytokines0.4914Inherited
MIR domain0.5726Inherited
Myosin rod fragments0.6992Inherited
Nicotinic receptor ligand binding domain-like0.798Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.798Inherited
Globin-like0.8571Inherited
(Trans)glycosidases0.86Inherited
MHC antigen-recognition domain0.9818Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
81995,81811
  • 81995 - beta-sandwich domain of Sec23/24
  • 81811 - Helical domain of Sec23/24
  • 0Direct
    63380,52343
  • 63380 - Riboflavin synthase domain-like
  • 52343 - Ferredoxin reductase-like, C-terminal NADP-linked domain
  • 0Direct
    50447,50465
  • 50447 - Translation proteins
  • 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain
  • 0Direct
    82919,53300
  • 82919 - Zn-finger domain of Sec23/24
  • 53300 - vWA-like
  • 0Direct
    81811,82754
  • 81811 - Helical domain of Sec23/24
  • 82754 - C-terminal, gelsolin-like domain of Sec23/24
  • 0Direct
    57184,57581
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    64268,50044
  • 64268 - PX domain
  • 50044 - SH3-domain
  • 0Direct
    57581,57184
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    47923,47923
  • 47923 - Ypt/Rab-GAP domain of gyp1p
  • 47923 - Ypt/Rab-GAP domain of gyp1p
  • 0Direct
    57889,48350
  • 57889 - Cysteine-rich domain
  • 48350 - GTPase activation domain, GAP
  • 0Direct
    57196,90193
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0Direct
    53300,81995
  • 53300 - vWA-like
  • 81995 - beta-sandwich domain of Sec23/24
  • 0Direct
    52980,47781
  • 52980 - Restriction endonuclease-like
  • 47781 - RuvA domain 2-like
  • 0Direct
    57196,57581
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    57581,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    53067,53067
  • 53067 - Actin-like ATPase domain
  • 53067 - Actin-like ATPase domain
  • 0.007258Inherited
    49899,57196
  • 49899 - Concanavalin A-like lectins/glucanases
  • 57196 - EGF/Laminin
  • 0.02633Inherited
    54160,52540
  • 54160 - Chromo domain-like
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.04509Inherited
    54160,54160
  • 54160 - Chromo domain-like
  • 54160 - Chromo domain-like
  • 0.04509Inherited
    50978,50978
  • 50978 - WD40 repeat-like
  • 50978 - WD40 repeat-like
  • 0.1584Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.2451Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.595Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.7628Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.798Inherited
    57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.8178Inherited
    49313,49313
  • 49313 - Cadherin-like
  • 49313 - Cadherin-like
  • 0.934Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.9818Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    57184,57581,57184
  • 57184 - Growth factor receptor domain
  • 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
    53300,81995,81811
  • 53300 - vWA-like
  • 81995 - beta-sandwich domain of Sec23/24
  • 81811 - Helical domain of Sec23/24
  • 0Direct
    57196,57581,57184
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 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
    63825,57196,63825
  • 63825 - YWTD domain
  • 57196 - EGF/Laminin
  • 63825 - YWTD domain
  • 0Direct
    57184,57184,57581
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    57196,57196,90193
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor 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
    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
    57581,57196,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0Direct
    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
    49899,49899,57196
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 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
    54160,52540,52540
  • 54160 - Chromo domain-like
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.04509Inherited
    54160,54160,52540
  • 54160 - Chromo domain-like
  • 54160 - Chromo domain-like
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.04509Inherited
    52540,52540,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.08026Inherited
    57184,57196,57196
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.2257Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.2716Inherited
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.2776Inherited
    57196,57184,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.4076Inherited
    49313,49313,49313
  • 49313 - Cadherin-like
  • 49313 - Cadherin-like
  • 49313 - Cadherin-like
  • 0.934Inherited


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