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Phenotypic Abnormality (PA): Abnormal skull 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>
+ + + 3:   Abnormality of the skeletal system [HP:0000924] <7>(89|98) (94|51|33)
+ + 2:   Abnormality of skeletal morphology [HP:0011842] <18>(87|89) (90|49|32)
+ + 2:   Abnormality of head or neck [HP:0000152] <2>(87|107) (98|59|37)
+ 1:   Abnormality of the head [HP:0000234] <6>(86|105) (97|58|37)
+ 1:   Abnormal axial skeleton morphology [HP:0009121] <6>(48|61) (53|28|26)
0:   Abnormal skull morphology [HP:0000929] <14>(27|38) (30|20|20)
- 1:   Abnormality of facial skeleton [HP:0011821] <14>(4|5) (5|6|9)
- 1:   Abnormality of the calvaria [HP:0002683] <7>(8|16) (8|6|6)
- 1:   Abnormality of the skull base [HP:0002693] <5>(2|1) (2|0|0)
- 1:   Abnormality of the mastoid [HP:0000264] <4>(0|0) (0|0|0)
- 1:   Abnormality of the sella turcica [HP:0002679] <4>(0|0) (0|0|0)
- 1:   Abnormal temporal bone morphology [HP:0009911] <3>(0|0) (0|0|0)
- 1:   Aplasia/Hypoplasia involving bones of the skull [HP:0009116] <3>(0|1) (0|1|1)
- 1:   Abnormality of bony orbit of skull [HP:3000030] <2>(0|0) (0|0|0)
- 1:   Abnormality of skull ossification [HP:0002703] <2>(0|0) (0|0|0)
- 1:   Abnormality of skull size [HP:0000240] <2>(15|23) (18|10|5)
- 1:   Abnormality of the foramen magnum [HP:0002699] <2>(0|0) (0|0|0)
- 1:   Cephalocele [HP:0011815] <2>(0|1) (0|1|1)
- 1:   Craniofacial dysostosis [HP:0004439] <2>(0|0) (0|0|0)
- 1:   Abnormality of the occipital bone [HP:0012294](0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
CCCH zinc finger0Direct
Zn-finger domain of Sec23/240Direct
tRNA-intron endonuclease catalytic domain-like0Direct
Restriction endonuclease-like0Direct
Notch domain0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
RuvA domain 2-like0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
BRK domain-like0Direct
Pseudouridine synthase0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
ADC-like0Direct
4Fe-4S ferredoxins0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
Helical domain of Sec23/240Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
L27 domain0Direct
ARID-like0.03235Inherited
WD40 repeat-like0.07324Inherited
Nucleotide-diphospho-sugar transferases0.08402Inherited
Actin-like ATPase domain0.08932Inherited
Homeodomain-like0.1568Inherited
"Winged helix" DNA-binding domain0.1586Inherited
HLH, helix-loop-helix DNA-binding domain0.213Inherited
NagB/RpiA/CoA transferase-like0.2467Inherited
Ribonuclease H-like0.5286Inherited
beta-sandwich domain of Sec23/240.5984Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
Trunk domain of Sec23/240Direct
Helical domain of Sec23/240Direct
L27 domain0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
beta-sandwich domain of Sec23/240Direct
Ferredoxin domains from multidomain proteins0Direct
Protein serine/threonine phosphatase0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
Exostosin0Direct
Histone deacetylase, HDAC0Direct
BRK domain-like0Direct
XPF/Rad1/Mus81 nuclease0Direct
Zn-finger domain of Sec23/240Direct
Ferredoxin reductase FAD-binding domain-like0Direct
Inositol polyphosphate 5-phosphatase (IPP5)0Direct
IF2B-like0Direct
Clathrin adaptor core protein0Direct
CCCH zinc finger0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
N-acetyl transferase, NAT0Direct
Notch domain0Direct
SWIRM domain0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
Actin/HSP700.005396Inherited
ARID domain0.02189Inherited
PHD domain0.04552Inherited
Histone lysine methyltransferases0.04895Inherited
G proteins0.05577Inherited
Bromodomain0.06659Inherited
RecA protein-like (ATPase-domain)0.1409Inherited
HLH, helix-loop-helix DNA-binding domain0.1661Inherited
Class I aminoacyl-tRNA synthetases (RS), catalytic domain0.1779Inherited
Homeodomain0.2106Inherited
Globins0.3109Inherited
Erythroid transcription factor GATA-10.3611Inherited
I set domains0.5129Inherited
Cadherin0.9054Inherited
C1 set domains (antibody constant domain-like)0.9477Inherited


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
L27 domain0Direct
ADC-like0Direct
4Fe-4S ferredoxins0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
BRK domain-like0Direct
Helical domain of Sec23/240Direct
CCCH zinc finger0Direct
Zn-finger domain of Sec23/240Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
Restriction endonuclease-like0Direct
Pseudouridine synthase0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
RuvA domain 2-like0Direct
ARID-like0.02309Inherited
WD40 repeat-like0.05632Inherited
Nucleotide-diphospho-sugar transferases0.06533Inherited
Bromodomain0.06979Inherited
Actin-like ATPase domain0.06979Inherited
Homeodomain-like0.1292Inherited
"Winged helix" DNA-binding domain0.1307Inherited
Nucleotidylyl transferase0.1778Inherited
HLH, helix-loop-helix DNA-binding domain0.18Inherited
NagB/RpiA/CoA transferase-like0.2111Inherited
Globin-like0.3184Inherited
Ribonuclease H-like0.4854Inherited
beta-sandwich domain of Sec23/240.5571Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
82919,53300
  • 82919 - Zn-finger domain of Sec23/24
  • 53300 - vWA-like
  • 0Direct
    64268,50044
  • 64268 - PX domain
  • 50044 - SH3-domain
  • 0Direct
    57581,57184
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57889,48350
  • 57889 - Cysteine-rich domain
  • 48350 - GTPase activation domain, GAP
  • 0Direct
    57196,90193
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    57184,57581
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 0Direct
    50447,50465
  • 50447 - Translation proteins
  • 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain
  • 0Direct
    52980,47781
  • 52980 - Restriction endonuclease-like
  • 47781 - RuvA domain 2-like
  • 0Direct
    53300,81995
  • 53300 - vWA-like
  • 81995 - beta-sandwich domain of Sec23/24
  • 0Direct
    81995,81811
  • 81995 - beta-sandwich domain of Sec23/24
  • 81811 - Helical domain of Sec23/24
  • 0Direct
    47923,47923
  • 47923 - Ypt/Rab-GAP domain of gyp1p
  • 47923 - Ypt/Rab-GAP domain of gyp1p
  • 0Direct
    63380,52343
  • 63380 - Riboflavin synthase domain-like
  • 52343 - Ferredoxin reductase-like, C-terminal NADP-linked domain
  • 0Direct
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0Direct
    81811,82754
  • 81811 - Helical domain of Sec23/24
  • 82754 - C-terminal, gelsolin-like domain of Sec23/24
  • 0Direct
    54160,52540
  • 54160 - Chromo domain-like
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.02309Inherited
    54160,54160
  • 54160 - Chromo domain-like
  • 54160 - Chromo domain-like
  • 0.02309Inherited
    53067,53067
  • 53067 - Actin-like ATPase domain
  • 53067 - Actin-like ATPase domain
  • 0.116Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.147Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.3881Inherited
    49313,49313
  • 49313 - Cadherin-like
  • 49313 - Cadherin-like
  • 0.9004Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    53300,81995,81811
  • 53300 - vWA-like
  • 81995 - beta-sandwich domain of Sec23/24
  • 81811 - Helical domain of Sec23/24
  • 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
    57184,57581,57184
  • 57184 - Growth factor receptor domain
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    49899,49899,57196
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 57196 - EGF/Laminin
  • 0Direct
    57184,57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor 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
    52540,50447,50465
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain
  • 0Direct
    57184,57184,57581
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 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
    63825,57196,63825
  • 63825 - YWTD domain
  • 57196 - EGF/Laminin
  • 63825 - YWTD domain
  • 0Direct
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0Direct
    54160,52540,52540
  • 54160 - Chromo domain-like
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.02309Inherited
    54160,54160,52540
  • 54160 - Chromo domain-like
  • 54160 - Chromo domain-like
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.02309Inherited
    57196,57184,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.1689Inherited
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.1866Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.3628Inherited
    52540,52540,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.3679Inherited
    57184,57196,57196
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.4546Inherited
    49313,49313,49313
  • 49313 - Cadherin-like
  • 49313 - Cadherin-like
  • 49313 - Cadherin-like
  • 0.9004Inherited


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