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Phenotypic Abnormality (PA): Morphological abnormality of the central nervous system

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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 nervous system [HP:0000707] <4>(140|161) (154|97|43)
+ 1:   Abnormality of nervous system morphology [HP:0012639] <5>(70|93) (79|45|15)
0:   Morphological abnormality of the central nervous system [HP:0002011] <17>(62|82) (71|38|15)
- 1:   Abnormality of the spinal cord [HP:0002143] <16>(3|5) (5|1|2)
- 1:   Abnormality of brain morphology [HP:0012443] <13>(45|61) (53|29|13)
- 1:   Aplasia/Hypoplasia involving the central nervous system [HP:0002977] <13>(19|22) (22|9|2)
- 1:   Atrophy/Degeneration affecting the central nervous system [HP:0007367] <10>(3|6) (3|3|0)
- 1:   Encephalocele [HP:0002084] <9>(0|1) (0|1|1)
- 1:   Abnormality of the cerebrospinal fluid [HP:0002921] <8>(1|1) (2|0|1)
- 1:   Abnormal meningeal morphology [HP:0010651] <7>(0|0) (0|1|1)
- 1:   Abnormal CNS myelination [HP:0011400] <6>(1|1) (1|0|0)
- 1:   Abnormality of the glial cells [HP:0100705] <6>(5|5) (5|3|0)
- 1:   Neoplasm of the central nervous system [HP:0100006] <5>(3|5) (3|2|0)
- 1:   Unusual CNS infection [HP:0011450] <5>(10|7) (10|2|0)
- 1:   Abnormal subarachnoid space morphology [HP:0012703] <4>(2|2) (3|0|0)
- 1:   Abnormality of neuronal migration [HP:0002269] <3>(4|3) (4|2|1)
- 1:   Central nervous system cyst [HP:0030724] <2>(2|1) (2|0|0)
- 1:   Morphological abnormality of the pyramidal tract [HP:0002062] <2>(0|1) (0|0|0)
- 1:   Abnormal neural tube morphology [HP:0410043] <1>(3|5) (4|0|0)
- 1:   Alzheimer disease [HP:0002511](0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
Pseudouridine synthase0Direct
Lamin A/C globular tail domain0Direct
CCCH zinc finger0Direct
Smc hinge domain0Direct
4Fe-4S ferredoxins0Direct
Restriction endonuclease-like0Direct
Subtilisin-like0Direct
RuvA domain 2-like0Direct
ThrRS/AlaRS common domain0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
SAND domain-like0Direct
BRK domain-like0Direct
Rhodanese/Cell cycle control phosphatase0Direct
beta and beta-prime subunits of DNA dependent RNA-polymerase0Direct
Notch domain0Direct
Ribonuclease PH domain 2-like0Direct
Fibrinogen coiled-coil and central regions0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
ADC-like0Direct
ARM repeat0.007336Inherited
HMG-box0.02045Inherited
GLA-domain0.04625Inherited
Nucleotide-diphospho-sugar transferases0.04696Inherited
ARID-like0.07332Inherited
Bromodomain0.1355Inherited
Fibrinogen C-terminal domain-like0.1672Inherited
Calcium-dependent phosphotriesterase0.1779Inherited
Anaphylotoxins (complement system)0.1779Inherited
DNA repair protein MutS, domain III0.1779Inherited
NagB/RpiA/CoA transferase-like0.1797Inherited
Adenine nucleotide alpha hydrolases-like0.1797Inherited
SET domain0.2009Inherited
p53-like transcription factors0.2397Inherited
SH2 domain0.3627Inherited
Ribosomal protein S5 domain 2-like0.3814Inherited
Alpha-macroglobulin receptor domain0.4032Inherited
WD40 repeat-like0.429Inherited
Integrin domains0.4357Inherited
Tubulin nucleotide-binding domain-like0.4933Inherited
RNA-binding domain, RBD0.5007Inherited
Thioredoxin-like0.5207Inherited
Tubulin C-terminal domain-like0.5269Inherited
Ribonuclease H-like0.5269Inherited
C2 domain (Calcium/lipid-binding domain, CaLB)0.565Inherited
Snake toxin-like0.5672Inherited
Homeodomain-like0.5869Inherited
Terpenoid cyclases/Protein prenyltransferases0.6621Inherited
MHC antigen-recognition domain0.7304Inherited
TIMP-like0.7304Inherited
MIR domain0.7798Inherited
Nuclear receptor ligand-binding domain0.791Inherited
Cytochrome P4500.8941Inherited
TNF receptor-like0.9259Inherited
Complement control module/SCR domain0.9723Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.989Inherited
DEATH domain0.9903Inherited
RNI-like0.9978Inherited
Immunoglobulin1Inherited
Actin-like ATPase domain1Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
Notch domain0Direct
XPF/Rad1/Mus81 nuclease0Direct
Translational machinery components0Direct
Protein serine/threonine phosphatase0Direct
CCCH zinc finger0Direct
Double-stranded RNA-binding domain (dsRBD)0Direct
Lamin A/C globular tail domain0Direct
alpha-Amylases, C-terminal beta-sheet domain0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
BRK domain-like0Direct
Ferredoxin domains from multidomain proteins0Direct
Smc hinge domain0Direct
Subtilases0Direct
Serum paraoxonase/arylesterase 1, PON10Direct
Fibrinogen coiled-coil and central regions0Direct
L-aspartase/fumarase0Direct
EF-G/eEF-2 domains III and V0Direct
Ribonuclease PH domain 1-like0Direct
IF2B-like0Direct
Branched-chain alpha-keto acid dehydrogenase PP module0Direct
Ribonuclease PH domain 2-like0Direct
Clathrin adaptor core protein0Direct
UBA domain0Direct
N-acetyl transferase, NAT0Direct
Putative glucosidase YicI, domain 30Direct
Pyridoxal-dependent decarboxylase0Direct
Multidrug efflux transporter AcrB transmembrane domain0Direct
C5 cytosine-specific DNA methylase, DCM0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Exostosin0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
SWIRM domain0Direct
Histone deacetylase, HDAC0Direct
Elongation factors0Direct
Ferredoxin reductase FAD-binding domain-like0Direct
Extended AAA-ATPase domain0.0005082Direct
Histone lysine methyltransferases0.007088Inherited
HMG-box0.01386Inherited
GLA-domain0.03385Inherited
ARID domain0.05669Inherited
Transforming growth factor (TGF)-beta0.05846Inherited
Phoshoinositide 3-kinase (PI3K), catalytic domain0.1012Inherited
Bromodomain0.11Inherited
Fibrinogen C-terminal domain-like0.1381Inherited
DNA repair protein MutS, domain III0.1482Inherited
Anaphylotoxins (complement system)0.1482Inherited
Netrin-like domain (NTR/C345C module)0.1482Inherited
VWC domain0.1495Inherited
Tetramerization domain of potassium channels0.1689Inherited
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains0.1927Inherited
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain0.1927Inherited
Canonical RBD0.2436Inherited
SH2 domain0.3199Inherited
Alpha-macroglobulin receptor domain0.3619Inherited
Complement components0.3619Inherited
Integrin domains0.3942Inherited
Tyrosine-dependent oxidoreductases0.4284Inherited
Tubulin, GTPase domain0.4576Inherited
Tubulin, C-terminal domain0.4915Inherited
Protein kinase cysteine-rich domain (cys2, phorbol-binding domain)0.5668Inherited
ABC transporter ATPase domain-like0.5693Inherited
Actin/HSP700.6095Inherited
Class I aminoacyl-tRNA synthetases (RS), catalytic domain0.6467Inherited
Transducin (alpha subunit), insertion domain0.6538Inherited
DNA gyrase/MutL, second domain0.7026Inherited
MHC antigen-recognition domain0.7026Inherited
DNA gyrase/MutL, N-terminal domain0.7026Inherited
Homeodomain0.7227Inherited
Myosin rod fragments0.7296Inherited
G proteins0.7525Inherited
Ras-binding domain, RBD0.7563Inherited
beta-glycanases0.7563Inherited
Clathrin coat assembly domain0.7563Inherited
MIR domain0.7563Inherited
Nuclear receptor ligand-binding domain0.7627Inherited
Nuclear receptor0.7668Inherited
Cytochrome P4500.8276Inherited
PDZ domain0.8433Inherited
C1 set domains (antibody constant domain-like)0.9122Inherited
I set domains0.9412Inherited
Complement control module/SCR domain0.9616Inherited
Rhodopsin-like0.9958Inherited


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
Fibrinogen coiled-coil and central regions0Direct
4Fe-4S ferredoxins0Direct
Notch domain0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
ADC-like0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
beta and beta-prime subunits of DNA dependent RNA-polymerase0Direct
Ribonuclease PH domain 2-like0Direct
Subtilisin-like0Direct
Smc hinge domain0Direct
ThrRS/AlaRS common domain0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
Lamin A/C globular tail domain0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
SAND domain-like0Direct
RuvA domain 2-like0Direct
Restriction endonuclease-like0Direct
BRK domain-like0Direct
Rhodanese/Cell cycle control phosphatase0Direct
CCCH zinc finger0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
ARM repeat0.004713Inherited
HMG-box0.01413Inherited
GLA-domain0.03419Inherited
Nucleotide-diphospho-sugar transferases0.0348Inherited
ARID-like0.05655Inherited
Bromodomain0.1102Inherited
Fibrinogen C-terminal domain-like0.1384Inherited
DNA repair protein MutS, domain III0.1478Inherited
Anaphylotoxins (complement system)0.1478Inherited
Calcium-dependent phosphotriesterase0.1478Inherited
NagB/RpiA/CoA transferase-like0.1494Inherited
Adenine nucleotide alpha hydrolases-like0.1494Inherited
SET domain0.1687Inherited
Protein kinase-like (PK-like)0.196Inherited
p53-like transcription factors0.2049Inherited
Cystine-knot cytokines0.3113Inherited
SH2 domain0.322Inherited
Ribosomal protein S5 domain 2-like0.3403Inherited
Alpha-macroglobulin receptor domain0.3617Inherited
WD40 repeat-like0.3867Inherited
Ankyrin repeat0.3918Inherited
Integrin domains0.3934Inherited
Tubulin nucleotide-binding domain-like0.4502Inherited
RNA-binding domain, RBD0.4576Inherited
Thioredoxin-like0.4777Inherited
Ribonuclease H-like0.484Inherited
Cysteine-rich domain0.484Inherited
Tubulin C-terminal domain-like0.484Inherited
C2 domain (Calcium/lipid-binding domain, CaLB)0.5223Inherited
Snake toxin-like0.5245Inherited
Homeodomain-like0.5451Inherited
Nucleotidylyl transferase0.5546Inherited
Terpenoid cyclases/Protein prenyltransferases0.6224Inherited
Transducin (alpha subunit), insertion domain0.6444Inherited
4-helical cytokines0.6444Inherited
MHC antigen-recognition domain0.6929Inherited
TIMP-like0.6929Inherited
Myosin rod fragments0.7234Inherited
MIR domain0.7451Inherited
Nuclear receptor ligand-binding domain0.7567Inherited
Cytochrome P4500.8652Inherited
TNF receptor-like0.8985Inherited
FAD/NAD(P)-binding domain0.9157Inherited
Complement control module/SCR domain0.9491Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.9679Inherited
DEATH domain0.9692Inherited
RNI-like0.9779Inherited
Actin-like ATPase domain0.9812Inherited
Immunoglobulin0.9972Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
-8,54980
  • -8 - ECOD
  • 54980 - EF-G C-terminal domain-like
  • 0Direct
    54928,90209
  • 54928 - RNA-binding domain, RBD
  • 90209 - Ran binding protein zinc finger-like
  • 0Direct
    50447,-8
  • 50447 - Translation proteins
  • -8 - ECOD
  • 0Direct
    52540,50447
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 0Direct
    57184,49899
  • 57184 - Growth factor receptor domain
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0Direct
    54211,54980
  • 54211 - Ribosomal protein S5 domain 2-like
  • 54980 - EF-G C-terminal domain-like
  • 0Direct
    54980,54211
  • 54980 - EF-G C-terminal domain-like
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0Direct
    50447,50465
  • 50447 - Translation proteins
  • 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain
  • 0Direct
    52540,46785
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 46785 - "Winged helix" DNA-binding domain
  • 0Direct
    57196,90193
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    47473,103506
  • 47473 - EF-hand
  • 103506 - Mitochondrial carrier
  • 0Direct
    51206,51206
  • 51206 - cAMP-binding domain-like
  • 51206 - cAMP-binding domain-like
  • 0Direct
    54768,54768
  • 54768 - dsRNA-binding domain-like
  • 54768 - dsRNA-binding domain-like
  • 0Direct
    54211,55666
  • 54211 - Ribosomal protein S5 domain 2-like
  • 55666 - Ribonuclease PH domain 2-like
  • 0Direct
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0Direct
    47005,52777
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    47923,47923
  • 47923 - Ypt/Rab-GAP domain of gyp1p
  • 47923 - Ypt/Rab-GAP domain of gyp1p
  • 0Direct
    51230,47005
  • 51230 - Single hybrid motif
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 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
    54897,52743
  • 54897 - Protease propeptides/inhibitors
  • 52743 - Subtilisin-like
  • 0Direct
    141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    48371,48371
  • 48371 - ARM repeat
  • 48371 - ARM repeat
  • 0.04392Inherited
    54928,54928
  • 54928 - RNA-binding domain, RBD
  • 54928 - RNA-binding domain, RBD
  • 0.1011Inherited
    57630,57196
  • 57630 - GLA-domain
  • 57196 - EGF/Laminin
  • 0.1478Inherited
    49410,50242
  • 49410 - Alpha-macroglobulin receptor domain
  • 50242 - TIMP-like
  • 0.1478Inherited
    48334,52540
  • 48334 - DNA repair protein MutS, domain III
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.1478Inherited
    50156,50156
  • 50156 - PDZ domain-like
  • 50156 - PDZ domain-like
  • 0.2661Inherited
    52490,55307
  • 52490 - Tubulin nucleotide-binding domain-like
  • 55307 - Tubulin C-terminal domain-like
  • 0.484Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.5192Inherited
    52374,47323
  • 52374 - Nucleotidylyl transferase
  • 47323 - Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases
  • 0.6444Inherited
    47895,52540
  • 47895 - Transducin (alpha subunit), insertion domain
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.6444Inherited
    55874,54211
  • 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0.6929Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.6929Inherited
    57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.8442Inherited
    57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.9281Inherited
    53067,53067
  • 53067 - Actin-like ATPase domain
  • 53067 - Actin-like ATPase domain
  • 0.9433Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.957Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    54980,54211,54980
  • 54980 - EF-G C-terminal domain-like
  • 54211 - Ribosomal protein S5 domain 2-like
  • 54980 - EF-G C-terminal domain-like
  • 0Direct
    51230,47005,52777
  • 51230 - Single hybrid motif
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    57196,57196,90193
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    49899,57196,57196
  • 49899 - Concanavalin A-like lectins/glucanases
  • 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
    141072,141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    57184,49899,49899
  • 57184 - Growth factor receptor domain
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0Direct
    50447,-8,54980
  • 50447 - Translation proteins
  • -8 - ECOD
  • 54980 - EF-G C-terminal domain-like
  • 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
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.09695Inherited
    57184,57184,57196
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0.1478Inherited
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.1478Inherited
    49899,49899,49899
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0.4994Inherited
    57535,57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.4994Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.8711Inherited


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