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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>(142|168) (156|103|45)
+ 1:   Abnormality of nervous system morphology [HP:0012639] <5>(69|97) (79|52|16)
0:   Morphological abnormality of the central nervous system [HP:0002011] <17>(60|85) (69|44|16)
- 1:   Abnormality of the spinal cord [HP:0002143] <16>(3|5) (3|0|2)
- 1:   Abnormality of brain morphology [HP:0012443] <13>(43|63) (53|34|15)
- 1:   Aplasia/Hypoplasia involving the central nervous system [HP:0002977] <13>(19|26) (23|13|3)
- 1:   Atrophy/Degeneration affecting the central nervous system [HP:0007367] <10>(3|5) (5|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>(2|2) (2|1|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|6) (3|2|0)
- 1:   Unusual CNS infection [HP:0011450] <5>(9|7) (10|2|0)
- 1:   Abnormal subarachnoid space morphology [HP:0012703] <4>(2|1) (3|0|0)
- 1:   Abnormality of neuronal migration [HP:0002269] <3>(4|3) (4|1|0)
- 1:   Central nervous system cyst [HP:0030724] <3>(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) (3|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)
Notch domain0Direct
Rhodanese/Cell cycle control phosphatase0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
Lamin A/C globular tail domain0Direct
ADC-like0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
Restriction endonuclease-like0Direct
RuvA domain 2-like0Direct
Pseudouridine synthase0Direct
Smc hinge domain0Direct
4Fe-4S ferredoxins0Direct
SAND domain-like0Direct
Fibrinogen coiled-coil and central regions0Direct
Ribonuclease PH domain 2-like0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
Multidrug efflux transporter AcrB transmembrane domain0Direct
CCCH zinc finger0Direct
beta and beta-prime subunits of DNA dependent RNA-polymerase0Direct
ARM repeat0.007162Inherited
Nucleotide-diphospho-sugar transferases0.04405Inherited
GLA-domain0.05192Inherited
ARID-like0.08028Inherited
Ypt/Rab-GAP domain of gyp1p0.124Inherited
Bromodomain0.1539Inherited
SET domain0.1782Inherited
Fibrinogen C-terminal domain-like0.183Inherited
Anaphylotoxins (complement system)0.1888Inherited
Calcium-dependent phosphotriesterase0.1888Inherited
DNA repair protein MutS, domain III0.1888Inherited
NagB/RpiA/CoA transferase-like0.1941Inherited
Adenine nucleotide alpha hydrolases-like0.1941Inherited
Thioredoxin-like0.2703Inherited
p53-like transcription factors0.2803Inherited
MHC antigen-recognition domain0.2868Inherited
Alpha-macroglobulin receptor domain0.3265Inherited
Ribosomal protein S5 domain 2-like0.3801Inherited
WD40 repeat-like0.4156Inherited
Integrin domains0.461Inherited
C2 domain (Calcium/lipid-binding domain, CaLB)0.5085Inherited
Tubulin nucleotide-binding domain-like0.5164Inherited
Ribonuclease H-like0.5164Inherited
RNA-binding domain, RBD0.5325Inherited
SH2 domain0.5401Inherited
Tubulin C-terminal domain-like0.5486Inherited
Periplasmic binding protein-like II0.5826Inherited
Terpenoid cyclases/Protein prenyltransferases0.583Inherited
Snake toxin-like0.596Inherited
Homeodomain-like0.662Inherited
TIMP-like0.7463Inherited
Myosin rod fragments0.7833Inherited
Nucleotidylyl transferase0.8278Inherited
Nuclear receptor ligand-binding domain0.8694Inherited
Class II aaRS and biotin synthetases0.8839Inherited
Cytochrome P4500.9673Inherited
RNI-like0.985Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.9943Inherited
Actin-like ATPase domain0.9998Inherited
Immunoglobulin1Inherited
DEATH domain1Inherited


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Family

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SCOP termFDR (all)Annotation (direct or inherited)
CCCH zinc finger0Direct
Translational machinery components0Direct
Double-stranded RNA-binding domain (dsRBD)0Direct
Ferredoxin domains from multidomain proteins0Direct
Protein serine/threonine phosphatase0Direct
Multidrug efflux transporter AcrB transmembrane domain0Direct
N-acetyl transferase, NAT0Direct
Serum paraoxonase/arylesterase 1, PON10Direct
Elongation factors0Direct
alpha-Amylases, C-terminal beta-sheet domain0Direct
Clathrin adaptor core protein0Direct
Lamin A/C globular tail domain0Direct
SWIRM domain0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
Notch domain0Direct
Smc hinge domain0Direct
CAT-like0Direct
XPF/Rad1/Mus81 nuclease0Direct
Branched-chain alpha-keto acid dehydrogenase PP module0Direct
Histone deacetylase, HDAC0Direct
L-aspartase/fumarase0Direct
Ribonuclease PH domain 1-like0Direct
Long-chain cytokines0Direct
C5 cytosine-specific DNA methylase, DCM0Direct
Ubiquitin carboxyl-terminal hydrolase, UCH0Direct
Exostosin0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Putative glucosidase YicI, domain 30Direct
EF-G/eEF-2 domains III and V0Direct
UBA domain0Direct
Ferredoxin reductase FAD-binding domain-like0Direct
Ribonuclease PH domain 2-like0Direct
Fibrinogen coiled-coil and central regions0Direct
SPRY domain0Direct
IF2B-like0Direct
Extended AAA-ATPase domain0.0006364Direct
FHA domain0.008053Inherited
Histone lysine methyltransferases0.008053Inherited
PHD domain0.02242Inherited
GLA-domain0.03714Inherited
ARID domain0.06051Inherited
Transforming growth factor (TGF)-beta0.06506Inherited
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain0.07261Inherited
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains0.07261Inherited
Phoshoinositide 3-kinase (PI3K), catalytic domain0.1075Inherited
Bromodomain0.1193Inherited
Fibrinogen C-terminal domain-like0.1466Inherited
Ypt/Rab-GAP domain of gyp1p0.154Inherited
DNA repair protein MutS, domain III0.154Inherited
Netrin-like domain (NTR/C345C module)0.154Inherited
Anaphylotoxins (complement system)0.154Inherited
VWC domain0.1575Inherited
T-box0.1582Inherited
Tetramerization domain of potassium channels0.1801Inherited
MHC antigen-recognition domain0.2403Inherited
Alpha-macroglobulin receptor domain0.2788Inherited
Complement components0.2788Inherited
Canonical RBD0.3664Inherited
Integrin domains0.4102Inherited
Tyrosine-dependent oxidoreductases0.4131Inherited
Tubulin, GTPase domain0.4719Inherited
SH2 domain0.4777Inherited
Crotonase-like0.4948Inherited
Tubulin, C-terminal domain0.5049Inherited
C1 set domains (antibody constant domain-like)0.5408Inherited
Protein kinase cysteine-rich domain (cys2, phorbol-binding domain)0.5408Inherited
Phosphate binding protein-like0.5408Inherited
Actin/HSP700.5786Inherited
ABC transporter ATPase domain-like0.6611Inherited
Transducin (alpha subunit), insertion domain0.6647Inherited
DNA gyrase/MutL, second domain0.7132Inherited
DNA gyrase/MutL, N-terminal domain0.7132Inherited
Second domain of FERM0.7314Inherited
Myosin rod fragments0.7446Inherited
G proteins0.7585Inherited
Homeodomain0.7606Inherited
beta-glycanases0.765Inherited
Ras-binding domain, RBD0.765Inherited
MIR domain0.765Inherited
PDZ domain0.7957Inherited
Nuclear receptor ligand-binding domain0.8337Inherited
Nuclear receptor0.8385Inherited
Class I aminoacyl-tRNA synthetases (RS), catalytic domain0.8604Inherited
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.8981Inherited
Cytochrome P4500.9225Inherited


Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term
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Supra-domain (including individual superfamily)

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Supra-domain (Single) FDR (all) Annotation (direct or inherited)
Acyl-CoA N-acyltransferases (Nat)0Direct
Smc hinge domain0Direct
Fibrinogen coiled-coil and central regions0Direct
Notch domain0Direct
Multidrug efflux transporter AcrB transmembrane domain0Direct
Pseudouridine synthase0Direct
Restriction endonuclease-like0Direct
RuvA domain 2-like0Direct
SAND domain-like0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
Lamin A/C globular tail domain0Direct
4Fe-4S ferredoxins0Direct
Ribonuclease PH domain 2-like0Direct
ADC-like0Direct
CCCH zinc finger0Direct
beta and beta-prime subunits of DNA dependent RNA-polymerase0Direct
Rhodanese/Cell cycle control phosphatase0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
ARM repeat0.004492Inherited
HMG-box0.02565Inherited
Nucleotide-diphospho-sugar transferases0.03197Inherited
GLA-domain0.03841Inherited
ARID-like0.06186Inherited
Ypt/Rab-GAP domain of gyp1p0.09922Inherited
Bromodomain0.1258Inherited
SET domain0.1472Inherited
Fibrinogen C-terminal domain-like0.1515Inherited
Anaphylotoxins (complement system)0.1569Inherited
DNA repair protein MutS, domain III0.1569Inherited
Calcium-dependent phosphotriesterase0.1569Inherited
Adenine nucleotide alpha hydrolases-like0.1619Inherited
NagB/RpiA/CoA transferase-like0.1619Inherited
Thioredoxin-like0.2322Inherited
p53-like transcription factors0.2418Inherited
MHC antigen-recognition domain0.248Inherited
Alpha-macroglobulin receptor domain0.2855Inherited
Ribosomal protein S5 domain 2-like0.3371Inherited
Cystine-knot cytokines0.3493Inherited
WD40 repeat-like0.372Inherited
Integrin domains0.417Inherited
PDZ domain-like0.4395Inherited
C2 domain (Calcium/lipid-binding domain, CaLB)0.4642Inherited
Tubulin nucleotide-binding domain-like0.472Inherited
Ribonuclease H-like0.472Inherited
RNA-binding domain, RBD0.4882Inherited
SH2 domain0.4962Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.5048Inherited
Tubulin C-terminal domain-like0.5048Inherited
Periplasmic binding protein-like II0.5397Inherited
Terpenoid cyclases/Protein prenyltransferases0.5401Inherited
Snake toxin-like0.5533Inherited
Homeodomain-like0.6214Inherited
Transducin (alpha subunit), insertion domain0.6613Inherited
TIMP-like0.7089Inherited
Myosin rod fragments0.7473Inherited
MIR domain0.7589Inherited
Nucleotidylyl transferase0.7941Inherited
Nuclear receptor ligand-binding domain0.838Inherited
Class II aaRS and biotin synthetases0.8539Inherited
Second domain of FERM0.8573Inherited
TNF receptor-like0.9081Inherited
Cysteine proteinases0.9272Inherited
Cytochrome P4500.9433Inherited
RNI-like0.963Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.9734Inherited
Actin-like ATPase domain0.9799Inherited
DEATH domain0.9856Inherited
Immunoglobulin0.9938Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
51206,51206
  • 51206 - cAMP-binding domain-like
  • 51206 - cAMP-binding domain-like
  • 0Direct
    52980,47781
  • 52980 - Restriction endonuclease-like
  • 47781 - RuvA domain 2-like
  • 0Direct
    47005,52777
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0Direct
    54897,52743
  • 54897 - Protease propeptides/inhibitors
  • 52743 - Subtilisin-like
  • 0Direct
    50447,54980
  • 50447 - Translation proteins
  • 54980 - EF-G C-terminal domain-like
  • 0Direct
    52540,46785
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 46785 - "Winged helix" DNA-binding domain
  • 0Direct
    54980,54211
  • 54980 - EF-G C-terminal domain-like
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0Direct
    57196,90193
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 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
    51230,47005
  • 51230 - Single hybrid motif
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 0Direct
    50249,50249
  • 50249 - Nucleic acid-binding proteins
  • 50249 - Nucleic acid-binding proteins
  • 0Direct
    54211,55666
  • 54211 - Ribosomal protein S5 domain 2-like
  • 55666 - Ribonuclease PH domain 2-like
  • 0Direct
    50447,-8
  • 50447 - Translation proteins
  • -8 - ECOD
  • 0Direct
    49265,49899
  • 49265 - Fibronectin type III
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0Direct
    54768,54768
  • 54768 - dsRNA-binding domain-like
  • 54768 - dsRNA-binding domain-like
  • 0Direct
    -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
    52540,50447
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 0Direct
    53822,53850
  • 53822 - Periplasmic binding protein-like I
  • 53850 - Periplasmic binding protein-like II
  • 0Direct
    57184,49899
  • 57184 - Growth factor receptor domain
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0Direct
    47473,103506
  • 47473 - EF-hand
  • 103506 - Mitochondrial carrier
  • 0Direct
    54211,54980
  • 54211 - Ribosomal protein S5 domain 2-like
  • 54980 - EF-G C-terminal domain-like
  • 0Direct
    48371,48371
  • 48371 - ARM repeat
  • 48371 - ARM repeat
  • 0.03281Inherited
    47923,47923
  • 47923 - Ypt/Rab-GAP domain of gyp1p
  • 47923 - Ypt/Rab-GAP domain of gyp1p
  • 0.09922Inherited
    57630,57196
  • 57630 - GLA-domain
  • 57196 - EGF/Laminin
  • 0.1569Inherited
    48334,52540
  • 48334 - DNA repair protein MutS, domain III
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.1569Inherited
    49410,50242
  • 49410 - Alpha-macroglobulin receptor domain
  • 50242 - TIMP-like
  • 0.1569Inherited
    54928,54928
  • 54928 - RNA-binding domain, RBD
  • 54928 - RNA-binding domain, RBD
  • 0.2098Inherited
    50156,50156
  • 50156 - PDZ domain-like
  • 50156 - PDZ domain-like
  • 0.2098Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.248Inherited
    52490,55307
  • 52490 - Tubulin nucleotide-binding domain-like
  • 55307 - Tubulin C-terminal domain-like
  • 0.5048Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.5397Inherited
    47895,52540
  • 47895 - Transducin (alpha subunit), insertion domain
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.6613Inherited
    52374,47323
  • 52374 - Nucleotidylyl transferase
  • 47323 - Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases
  • 0.6613Inherited
    55681,52954
  • 55681 - Class II aaRS and biotin synthetases
  • 52954 - Class II aaRS ABD-related
  • 0.7089Inherited
    55874,54211
  • 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0.7089Inherited
    50249,55681
  • 50249 - Nucleic acid-binding proteins
  • 55681 - Class II aaRS and biotin synthetases
  • 0.7589Inherited
    57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.9372Inherited
    57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.9379Inherited
    53067,53067
  • 53067 - Actin-like ATPase domain
  • 53067 - Actin-like ATPase domain
  • 0.9379Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.9483Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    141072,141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 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
    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
    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
    57196,57196,90193
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    52540,50447,54980
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 54980 - EF-G C-terminal domain-like
  • 0Direct
    57184,49899,49899
  • 57184 - Growth factor receptor domain
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0Direct
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.109Inherited
    57184,57184,57196
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0.1569Inherited
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.1569Inherited
    52540,52540,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.6183Inherited
    57535,57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.7473Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.779Inherited


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