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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)
Smc hinge domain0Direct
Notch domain0Direct
Restriction endonuclease-like0Direct
Pseudouridine synthase0Direct
4Fe-4S ferredoxins0Direct
beta and beta-prime subunits of DNA dependent RNA-polymerase0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
SAND domain-like0Direct
CCCH zinc finger0Direct
Ribonuclease PH domain 2-like0Direct
RuvA domain 2-like0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
ADC-like0Direct
Fibrinogen coiled-coil and central regions0Direct
Multidrug efflux transporter AcrB transmembrane domain0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
Rhodanese/Cell cycle control phosphatase0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
Lamin A/C globular tail domain0Direct
ARM repeat0.007135Inherited
Nucleotide-diphospho-sugar transferases0.04388Inherited
GLA-domain0.05186Inherited
ARID-like0.08023Inherited
Ypt/Rab-GAP domain of gyp1p0.1239Inherited
Bromodomain0.1537Inherited
SET domain0.1779Inherited
Fibrinogen C-terminal domain-like0.1827Inherited
Anaphylotoxins (complement system)0.1887Inherited
DNA repair protein MutS, domain III0.1887Inherited
Calcium-dependent phosphotriesterase0.1887Inherited
NagB/RpiA/CoA transferase-like0.1939Inherited
Adenine nucleotide alpha hydrolases-like0.1939Inherited
Thioredoxin-like0.2697Inherited
p53-like transcription factors0.28Inherited
MHC antigen-recognition domain0.2865Inherited
Alpha-macroglobulin receptor domain0.3262Inherited
Ribosomal protein S5 domain 2-like0.3797Inherited
WD40 repeat-like0.4148Inherited
Integrin domains0.4606Inherited
C2 domain (Calcium/lipid-binding domain, CaLB)0.5078Inherited
Ribonuclease H-like0.5161Inherited
Tubulin nucleotide-binding domain-like0.5161Inherited
RNA-binding domain, RBD0.5322Inherited
SH2 domain0.5396Inherited
Tubulin C-terminal domain-like0.5484Inherited
Periplasmic binding protein-like II0.5824Inherited
Terpenoid cyclases/Protein prenyltransferases0.5827Inherited
Snake toxin-like0.5958Inherited
Homeodomain-like0.6611Inherited
TIMP-like0.7463Inherited
Myosin rod fragments0.7831Inherited
Nucleotidylyl transferase0.8274Inherited
Nuclear receptor ligand-binding domain0.8691Inherited
Class II aaRS and biotin synthetases0.8838Inherited
Cytochrome P4500.9672Inherited
RNI-like0.9849Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.9943Inherited
Actin-like ATPase domain0.9997Inherited
DEATH domain1Inherited
Immunoglobulin1Inherited


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Family

(show details)
SCOP termFDR (all)Annotation (direct or inherited)
Ferredoxin reductase FAD-binding domain-like0Direct
Notch domain0Direct
SPRY domain0Direct
Ubiquitin carboxyl-terminal hydrolase, UCH0Direct
XPF/Rad1/Mus81 nuclease0Direct
Smc hinge domain0Direct
Ribonuclease PH domain 1-like0Direct
Multidrug efflux transporter AcrB transmembrane domain0Direct
Ribonuclease PH domain 2-like0Direct
Lamin A/C globular tail domain0Direct
IF2B-like0Direct
Protein serine/threonine phosphatase0Direct
CCCH zinc finger0Direct
Histone deacetylase, HDAC0Direct
Clathrin adaptor core protein0Direct
Exostosin0Direct
N-acetyl transferase, NAT0Direct
Translational machinery components0Direct
Ferredoxin domains from multidomain proteins0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
Double-stranded RNA-binding domain (dsRBD)0Direct
alpha-Amylases, C-terminal beta-sheet domain0Direct
Elongation factors0Direct
Branched-chain alpha-keto acid dehydrogenase PP module0Direct
Fibrinogen coiled-coil and central regions0Direct
UBA domain0Direct
EF-G/eEF-2 domains III and V0Direct
SWIRM domain0Direct
Putative glucosidase YicI, domain 30Direct
L-aspartase/fumarase0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Long-chain cytokines0Direct
Serum paraoxonase/arylesterase 1, PON10Direct
C5 cytosine-specific DNA methylase, DCM0Direct
CAT-like0Direct
Extended AAA-ATPase domain0.000633Direct
FHA domain0.008026Inherited
Histone lysine methyltransferases0.008026Inherited
PHD domain0.02231Inherited
GLA-domain0.03703Inherited
ARID domain0.06038Inherited
Transforming growth factor (TGF)-beta0.06483Inherited
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain0.07248Inherited
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains0.07248Inherited
Phoshoinositide 3-kinase (PI3K), catalytic domain0.1074Inherited
Bromodomain0.119Inherited
Fibrinogen C-terminal domain-like0.1463Inherited
Netrin-like domain (NTR/C345C module)0.1537Inherited
Anaphylotoxins (complement system)0.1537Inherited
DNA repair protein MutS, domain III0.1537Inherited
Ypt/Rab-GAP domain of gyp1p0.1537Inherited
VWC domain0.1573Inherited
T-box0.1578Inherited
Tetramerization domain of potassium channels0.1798Inherited
MHC antigen-recognition domain0.2399Inherited
Complement components0.2785Inherited
Alpha-macroglobulin receptor domain0.2785Inherited
Canonical RBD0.3658Inherited
Integrin domains0.4097Inherited
Tyrosine-dependent oxidoreductases0.4129Inherited
Tubulin, GTPase domain0.4718Inherited
SH2 domain0.4771Inherited
Crotonase-like0.4945Inherited
Tubulin, C-terminal domain0.5045Inherited
Protein kinase cysteine-rich domain (cys2, phorbol-binding domain)0.5405Inherited
C1 set domains (antibody constant domain-like)0.5405Inherited
Phosphate binding protein-like0.5405Inherited
Actin/HSP700.5785Inherited
ABC transporter ATPase domain-like0.6606Inherited
Transducin (alpha subunit), insertion domain0.6646Inherited
DNA gyrase/MutL, N-terminal domain0.713Inherited
DNA gyrase/MutL, second domain0.713Inherited
Second domain of FERM0.731Inherited
Myosin rod fragments0.7443Inherited
G proteins0.7581Inherited
Homeodomain0.7598Inherited
Ras-binding domain, RBD0.7649Inherited
beta-glycanases0.7649Inherited
MIR domain0.7649Inherited
PDZ domain0.7952Inherited
Nuclear receptor ligand-binding domain0.8333Inherited
Nuclear receptor0.8382Inherited
Class I aminoacyl-tRNA synthetases (RS), catalytic domain0.8603Inherited
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.898Inherited
Cytochrome P4500.9222Inherited


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)
SAND domain-like0Direct
Restriction endonuclease-like0Direct
ADC-like0Direct
Rhodanese/Cell cycle control phosphatase0Direct
CCCH zinc finger0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
4Fe-4S ferredoxins0Direct
Smc hinge domain0Direct
Lamin A/C globular tail domain0Direct
Ribonuclease PH domain 2-like0Direct
Notch domain0Direct
Multidrug efflux transporter AcrB transmembrane domain0Direct
RuvA domain 2-like0Direct
Pseudouridine synthase0Direct
Fibrinogen coiled-coil and central regions0Direct
beta and beta-prime subunits of DNA dependent RNA-polymerase0Direct
ARM repeat0.004479Inherited
HMG-box0.02559Inherited
Nucleotide-diphospho-sugar transferases0.03187Inherited
GLA-domain0.03841Inherited
ARID-like0.06184Inherited
Ypt/Rab-GAP domain of gyp1p0.09913Inherited
Bromodomain0.1256Inherited
SET domain0.147Inherited
Fibrinogen C-terminal domain-like0.1513Inherited
Anaphylotoxins (complement system)0.1569Inherited
DNA repair protein MutS, domain III0.1569Inherited
Calcium-dependent phosphotriesterase0.1569Inherited
Adenine nucleotide alpha hydrolases-like0.1617Inherited
NagB/RpiA/CoA transferase-like0.1617Inherited
Thioredoxin-like0.2317Inherited
p53-like transcription factors0.2416Inherited
MHC antigen-recognition domain0.2477Inherited
Alpha-macroglobulin receptor domain0.2852Inherited
Ribosomal protein S5 domain 2-like0.3368Inherited
Cystine-knot cytokines0.3488Inherited
WD40 repeat-like0.3714Inherited
Integrin domains0.4169Inherited
PDZ domain-like0.4388Inherited
C2 domain (Calcium/lipid-binding domain, CaLB)0.4635Inherited
Tubulin nucleotide-binding domain-like0.4717Inherited
Ribonuclease H-like0.4717Inherited
RNA-binding domain, RBD0.4879Inherited
SH2 domain0.4956Inherited
Tubulin C-terminal domain-like0.5046Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.5046Inherited
Periplasmic binding protein-like II0.5396Inherited
Terpenoid cyclases/Protein prenyltransferases0.5398Inherited
Snake toxin-like0.553Inherited
Homeodomain-like0.6204Inherited
Transducin (alpha subunit), insertion domain0.6611Inherited
TIMP-like0.7088Inherited
Myosin rod fragments0.7471Inherited
MIR domain0.7587Inherited
Nucleotidylyl transferase0.7938Inherited
Nuclear receptor ligand-binding domain0.8377Inherited
Class II aaRS and biotin synthetases0.8537Inherited
Second domain of FERM0.8571Inherited
TNF receptor-like0.9081Inherited
Cysteine proteinases0.9271Inherited
Cytochrome P4500.9431Inherited
RNI-like0.9629Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.9734Inherited
Actin-like ATPase domain0.9799Inherited
DEATH domain0.9855Inherited
Immunoglobulin0.9938Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
54928,90209
  • 54928 - RNA-binding domain, RBD
  • 90209 - Ran binding protein zinc finger-like
  • 0Direct
    141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    52540,50447
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 0Direct
    47473,103506
  • 47473 - EF-hand
  • 103506 - Mitochondrial carrier
  • 0Direct
    50249,50249
  • 50249 - Nucleic acid-binding proteins
  • 50249 - Nucleic acid-binding proteins
  • 0Direct
    51206,51206
  • 51206 - cAMP-binding domain-like
  • 51206 - cAMP-binding domain-like
  • 0Direct
    50447,-8
  • 50447 - Translation proteins
  • -8 - ECOD
  • 0Direct
    63380,52343
  • 63380 - Riboflavin synthase domain-like
  • 52343 - Ferredoxin reductase-like, C-terminal NADP-linked domain
  • 0Direct
    53822,53850
  • 53822 - Periplasmic binding protein-like I
  • 53850 - Periplasmic binding protein-like II
  • 0Direct
    -8,54980
  • -8 - ECOD
  • 54980 - EF-G C-terminal domain-like
  • 0Direct
    52540,46785
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 46785 - "Winged helix" DNA-binding domain
  • 0Direct
    54211,55666
  • 54211 - Ribosomal protein S5 domain 2-like
  • 55666 - Ribonuclease PH domain 2-like
  • 0Direct
    47005,52777
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    54980,54211
  • 54980 - EF-G C-terminal domain-like
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0Direct
    54897,52743
  • 54897 - Protease propeptides/inhibitors
  • 52743 - Subtilisin-like
  • 0Direct
    50447,50465
  • 50447 - Translation proteins
  • 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain
  • 0Direct
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 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
    50447,54980
  • 50447 - Translation proteins
  • 54980 - EF-G C-terminal domain-like
  • 0Direct
    57184,49899
  • 57184 - Growth factor receptor domain
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0Direct
    57196,90193
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    54768,54768
  • 54768 - dsRNA-binding domain-like
  • 54768 - dsRNA-binding domain-like
  • 0Direct
    49265,49899
  • 49265 - Fibronectin type III
  • 49899 - Concanavalin A-like lectins/glucanases
  • 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
  • 0.03275Inherited
    47923,47923
  • 47923 - Ypt/Rab-GAP domain of gyp1p
  • 47923 - Ypt/Rab-GAP domain of gyp1p
  • 0.09913Inherited
    49410,50242
  • 49410 - Alpha-macroglobulin receptor domain
  • 50242 - TIMP-like
  • 0.1569Inherited
    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
    50156,50156
  • 50156 - PDZ domain-like
  • 50156 - PDZ domain-like
  • 0.2096Inherited
    54928,54928
  • 54928 - RNA-binding domain, RBD
  • 54928 - RNA-binding domain, RBD
  • 0.2096Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.2477Inherited
    52490,55307
  • 52490 - Tubulin nucleotide-binding domain-like
  • 55307 - Tubulin C-terminal domain-like
  • 0.5046Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.5396Inherited
    47895,52540
  • 47895 - Transducin (alpha subunit), insertion domain
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.6611Inherited
    52374,47323
  • 52374 - Nucleotidylyl transferase
  • 47323 - Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases
  • 0.6611Inherited
    55681,52954
  • 55681 - Class II aaRS and biotin synthetases
  • 52954 - Class II aaRS ABD-related
  • 0.7088Inherited
    55874,54211
  • 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0.7088Inherited
    50249,55681
  • 50249 - Nucleic acid-binding proteins
  • 55681 - Class II aaRS and biotin synthetases
  • 0.7587Inherited
    57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.9371Inherited
    53067,53067
  • 53067 - Actin-like ATPase domain
  • 53067 - Actin-like ATPase domain
  • 0.9379Inherited
    57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.9379Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.9481Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    57196,57196,90193
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    51230,47005,52777
  • 51230 - Single hybrid motif
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    50447,-8,54980
  • 50447 - Translation proteins
  • -8 - ECOD
  • 54980 - EF-G C-terminal domain-like
  • 0Direct
    52540,50447,54980
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 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
    49899,57196,57196
  • 49899 - Concanavalin A-like lectins/glucanases
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0Direct
    141072,141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 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
    57184,49899,49899
  • 57184 - Growth factor receptor domain
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0Direct
    49899,49899,57196
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 57196 - EGF/Laminin
  • 0Direct
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.1089Inherited
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.1569Inherited
    57184,57184,57196
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 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
  • 0.6181Inherited
    57535,57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.7471Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.7783Inherited


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