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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>(88|98) (93|55|34)
+ + 2:   Abnormality of head or neck [HP:0000152] <2>(86|104) (97|58|38)
+ + 2:   Abnormality of skeletal morphology [HP:0011842] <17>(86|89) (90|52|33)
+ 1:   Abnormal axial skeleton morphology [HP:0009121] <6>(47|61) (51|30|26)
+ 1:   Abnormality of the head [HP:0000234] <6>(85|102) (96|57|38)
0:   Abnormal skull morphology [HP:0000929] <14>(25|38) (28|22|20)
- 1:   Abnormality of facial skeleton [HP:0011821] <14>(4|4) (5|6|9)
- 1:   Abnormality of the calvaria [HP:0002683] <7>(8|15) (8|6|6)
- 1:   Abnormality of the skull base [HP:0002693] <5>(1|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>(14|23) (15|11|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)
Notch domain0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
L27 domain0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
ADC-like0Direct
Restriction endonuclease-like0Direct
RuvA domain 2-like0Direct
Helical domain of Sec23/240Direct
Pseudouridine synthase0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
4Fe-4S ferredoxins0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
Zn-finger domain of Sec23/240Direct
CCCH zinc finger0Direct
BRK domain-like0Direct
ARID-like0.034Inherited
Actin-like ATPase domain0.07081Inherited
Nucleotide-diphospho-sugar transferases0.08482Inherited
Homeodomain-like0.123Inherited
"Winged helix" DNA-binding domain0.1607Inherited
HLH, helix-loop-helix DNA-binding domain0.2272Inherited
NagB/RpiA/CoA transferase-like0.2541Inherited
Ribonuclease H-like0.3171Inherited
beta-sandwich domain of Sec23/240.3378Inherited


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
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
BRK domain-like0Direct
SWIRM domain0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
Notch domain0Direct
XPF/Rad1/Mus81 nuclease0Direct
Histone deacetylase, HDAC0Direct
Exostosin0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Inositol polyphosphate 5-phosphatase (IPP5)0Direct
Ferredoxin reductase FAD-binding domain-like0Direct
beta-sandwich domain of Sec23/240Direct
Trunk domain of Sec23/240Direct
DNA polymerase I0Direct
IF2B-like0Direct
Elongation factors0.02243Inherited
ARID domain0.02303Inherited
PHD domain0.0356Inherited
G proteins0.03865Inherited
Histone lysine methyltransferases0.04923Inherited
Class I aminoacyl-tRNA synthetases (RS), catalytic domain0.06701Inherited
Bromodomain0.06701Inherited
RecA protein-like (ATPase-domain)0.1467Inherited
Homeodomain0.1644Inherited
HLH, helix-loop-helix DNA-binding domain0.1776Inherited
Globins0.3189Inherited
Erythroid transcription factor GATA-10.3627Inherited
I set domains0.621Inherited
Cadherin0.9056Inherited
C1 set domains (antibody constant domain-like)0.9482Inherited


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)
Acyl-CoA N-acyltransferases (Nat)0Direct
BRK domain-like0Direct
Notch domain0Direct
Pseudouridine synthase0Direct
Restriction endonuclease-like0Direct
RuvA domain 2-like0Direct
Helical domain of Sec23/240Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Zn-finger domain of Sec23/240Direct
4Fe-4S ferredoxins0Direct
L27 domain0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
ADC-like0Direct
CCCH zinc finger0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
ARID-like0.02415Inherited
Actin-like ATPase domain0.05399Inherited
Nucleotide-diphospho-sugar transferases0.06568Inherited
Bromodomain0.07018Inherited
Homeodomain-like0.09826Inherited
WD40 repeat-like0.09983Inherited
"Winged helix" DNA-binding domain0.1317Inherited
HLH, helix-loop-helix DNA-binding domain0.1922Inherited
NagB/RpiA/CoA transferase-like0.2169Inherited
Ribonuclease H-like0.2765Inherited
beta-sandwich domain of Sec23/240.2964Inherited
Globin-like0.3256Inherited

(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
    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
    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
    52540,50447
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 0.02395Inherited
    54160,54160
  • 54160 - Chromo domain-like
  • 54160 - Chromo domain-like
  • 0.02415Inherited
    54160,52540
  • 54160 - Chromo domain-like
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.02415Inherited
    53067,53067
  • 53067 - Actin-like ATPase domain
  • 53067 - Actin-like ATPase domain
  • 0.09001Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.1475Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.4313Inherited
    49313,49313
  • 49313 - Cadherin-like
  • 49313 - Cadherin-like
  • 0.9012Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    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
    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
    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
    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
    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
  • 0.02415Inherited
    54160,52540,52540
  • 54160 - Chromo domain-like
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.02415Inherited
    57196,57184,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.1692Inherited
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.1871Inherited
    52540,52540,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.3689Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.3714Inherited
    57184,57196,57196
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.4557Inherited
    49313,49313,49313
  • 49313 - Cadherin-like
  • 49313 - Cadherin-like
  • 49313 - Cadherin-like
  • 0.9012Inherited


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