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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>(87|94) (95|55|32)
+ 1:   Abnormality of skeletal morphology [HP:0011842] <19>(82|83) (88|48|29)
0:   Abnormal axial skeleton morphology [HP:0009121] <6>(46|57) (52|26|22)
- 1:   Abnormality of the vertebral column [HP:0000925] <20>(22|27) (27|11|10)
- 1:   Abnormal skull morphology [HP:0000929] <14>(26|36) (29|17|16)
- 1:   Abnormality of the thorax [HP:0000765] <12>(13|17) (15|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)
Zn-finger domain of Sec23/240Direct
Pseudouridine synthase0Direct
Helical domain of Sec23/240Direct
CCCH zinc finger0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
Smc hinge domain0Direct
Restriction endonuclease-like0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
SNARE fusion complex0Direct
RuvA domain 2-like0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
Tricorn protease domain 20Direct
BRK domain-like0Direct
FKBP-like0Direct
Notch domain0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
TB module/8-cys domain0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
ADC-like0Direct
Actin-like ATPase domain0.003679Inherited
Ribonuclease H-like0.01689Inherited
ARID-like0.05818Inherited
Nucleotide-diphospho-sugar transferases0.0804Inherited
P-loop containing nucleoside triphosphate hydrolases0.08061Inherited
beta-sandwich domain of Sec23/240.09852Inherited
Alkaline phosphatase-like0.1333Inherited
Homeodomain-like0.1421Inherited
WD40 repeat-like0.1507Inherited
"Winged helix" DNA-binding domain0.1647Inherited
HMG-box0.1816Inherited
Galactose-binding domain-like0.2353Inherited
Tropomyosin0.2576Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.3062Inherited
p53-like transcription factors0.3086Inherited
HLH, helix-loop-helix DNA-binding domain0.3286Inherited
NagB/RpiA/CoA transferase-like0.3529Inherited
MIR domain0.4721Inherited
Calponin-homology domain, CH-domain0.4728Inherited
GST C-terminal domain-like0.5075Inherited
Cystine-knot cytokines0.5403Inherited
MHC antigen-recognition domain0.603Inherited
Nicotinic receptor ligand binding domain-like0.665Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.665Inherited
Myosin rod fragments0.739Inherited
(Trans)glycosidases0.9184Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
Notch domain0Direct
TB module/8-cys domain0Direct
XPF/Rad1/Mus81 nuclease0Direct
Protein serine/threonine phosphatase0Direct
CCCH zinc finger0Direct
SNARE fusion complex0Direct
Glycosyl transferases group 10Direct
Inositol polyphosphate 5-phosphatase (IPP5)0Direct
Helical domain of Sec23/240Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
Ypt/Rab-GAP domain of gyp1p0Direct
BRK domain-like0Direct
Myotubularin-like phosphatases0Direct
Zn-finger domain of Sec23/240Direct
Smc hinge domain0Direct
IF2B-like0Direct
Clathrin adaptor core protein0Direct
FKBP immunophilin/proline isomerase0Direct
N-acetyl transferase, NAT0Direct
beta-sandwich domain of Sec23/240Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Exostosin0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
SWIRM domain0Direct
Trunk domain of Sec23/240Direct
Histone deacetylase, HDAC0Direct
Ferredoxin reductase FAD-binding domain-like0Direct
Histone lysine methyltransferases0.004315Inherited
PHD domain0.00433Inherited
Actin/HSP700.01402Inherited
Bromodomain0.02697Inherited
ARID domain0.04295Inherited
Homeodomain0.06228Inherited
Elongation factors0.07689Inherited
G proteins0.08385Inherited
VWC domain0.1196Inherited
beta-glycanases0.1251Inherited
HMG-box0.1436Inherited
Ras-binding domain, RBD0.1827Inherited
Class I aminoacyl-tRNA synthetases (RS), catalytic domain0.1856Inherited
Tropomyosin0.2186Inherited
Arylsulfatase0.245Inherited
HLH, helix-loop-helix DNA-binding domain0.2805Inherited
I set domains0.2962Inherited
RecA protein-like (ATPase-domain)0.4031Inherited
Calponin-homology domain, CH-domain0.4178Inherited
MIR domain0.4285Inherited
Transforming growth factor (TGF)-beta0.4561Inherited
Erythroid transcription factor GATA-10.4568Inherited
MHC antigen-recognition domain0.5604Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.6224Inherited
Nicotinic receptor ligand binding domain-like0.6224Inherited
Myosin rod fragments0.6968Inherited
C1 set domains (antibody constant domain-like)0.6968Inherited
Integrin A (or I) domain0.7981Inherited
Globins0.8631Inherited
LDL receptor-like module0.9008Inherited


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)
Pseudouridine synthase0Direct
Notch domain0Direct
Zn-finger domain of Sec23/240Direct
SNARE fusion complex0Direct
Helical domain of Sec23/240Direct
ADC-like0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
TB module/8-cys domain0Direct
Smc hinge domain0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
tRNA-intron endonuclease catalytic domain-like0Direct
FKBP-like0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
Tricorn protease domain 20Direct
RuvA domain 2-like0Direct
Restriction endonuclease-like0Direct
BRK domain-like0Direct
CCCH zinc finger0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
Actin-like ATPase domain0.002237Inherited
Ribonuclease H-like0.01147Inherited
Bromodomain0.0284Inherited
ARID-like0.04397Inherited
Nucleotide-diphospho-sugar transferases0.06254Inherited
P-loop containing nucleoside triphosphate hydrolases0.06276Inherited
GroEL equatorial domain-like0.07449Inherited
beta-sandwich domain of Sec23/240.07795Inherited
Alkaline phosphatase-like0.1083Inherited
Homeodomain-like0.116Inherited
WD40 repeat-like0.1238Inherited
Concanavalin A-like lectins/glucanases0.1265Inherited
"Winged helix" DNA-binding domain0.1361Inherited
HMG-box0.1511Inherited
Galactose-binding domain-like0.2008Inherited
Tropomyosin0.2215Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.2681Inherited
p53-like transcription factors0.2704Inherited
HLH, helix-loop-helix DNA-binding domain0.2892Inherited
NagB/RpiA/CoA transferase-like0.3125Inherited
MIR domain0.4296Inherited
Calponin-homology domain, CH-domain0.4303Inherited
GST C-terminal domain-like0.4644Inherited
Cystine-knot cytokines0.4976Inherited
MHC antigen-recognition domain0.5617Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.6254Inherited
Nicotinic receptor ligand binding domain-like0.6254Inherited
Myosin rod fragments0.7024Inherited
Immunoglobulin0.7628Inherited
Globin-like0.8597Inherited
(Trans)glycosidases0.8908Inherited
LDL receptor-like module0.8938Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
117281,117281
  • 117281 - Kelch motif
  • 117281 - Kelch motif
  • 0Direct
    81811,82754
  • 81811 - Helical domain of Sec23/24
  • 82754 - C-terminal, gelsolin-like domain of Sec23/24
  • 0Direct
    50447,50465
  • 50447 - Translation proteins
  • 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain
  • 0Direct
    57581,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    82919,53300
  • 82919 - Zn-finger domain of Sec23/24
  • 53300 - vWA-like
  • 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
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0Direct
    57184,57581
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    47923,47923
  • 47923 - Ypt/Rab-GAP domain of gyp1p
  • 47923 - Ypt/Rab-GAP domain of gyp1p
  • 0Direct
    64268,50044
  • 64268 - PX domain
  • 50044 - SH3-domain
  • 0Direct
    50729,50729
  • 50729 - PH domain-like
  • 50729 - PH domain-like
  • 0Direct
    57581,57184
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    52980,47781
  • 52980 - Restriction endonuclease-like
  • 47781 - RuvA domain 2-like
  • 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
    57196,57581
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    53067,53067
  • 53067 - Actin-like ATPase domain
  • 53067 - Actin-like ATPase domain
  • 0.006837Inherited
    49899,57196
  • 49899 - Concanavalin A-like lectins/glucanases
  • 57196 - EGF/Laminin
  • 0.02534Inherited
    50978,50978
  • 50978 - WD40 repeat-like
  • 50978 - WD40 repeat-like
  • 0.1549Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.2487Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.4011Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.5617Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.5984Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.6254Inherited
    57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.8235Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    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
    57184,57184,57196
  • 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
    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
    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
    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
    57196,57196,90193
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 90193 - Notch 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
    49899,49899,57196
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 57196 - EGF/Laminin
  • 0Direct
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0Direct
    63825,57196,63825
  • 63825 - YWTD domain
  • 57196 - EGF/Laminin
  • 63825 - YWTD domain
  • 0Direct
    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
    52540,50447,50465
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain
  • 0Direct
    57184,57196,57196
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.2215Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.2704Inherited
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.2813Inherited
    57196,57184,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.4118Inherited


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