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Phenotypic Abnormality (PA): Abnormality of brain 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)
+ + + + 4:   Phenotypic abnormality [HP:0000118] <25>
+ + + 3:   Abnormality of the nervous system [HP:0000707] <4>(142|168) (156|103|45)
+ + 2:   Abnormality of nervous system morphology [HP:0012639] <5>(69|97) (79|52|16)
+ 1:   Morphological abnormality of the central nervous system [HP:0002011] <17>(60|85) (69|44|16)
0:   Abnormality of brain morphology [HP:0012443] <13>(43|63) (53|34|15)
- 1:   Abnormality of the cerebral ventricles [HP:0002118] <11>(3|6) (6|1|3)
- 1:   Abnormality of brainstem morphology [HP:0002363] <10>(3|2) (3|1|0)
- 1:   Abnormality of the cerebral vasculature [HP:0100659] <7>(7|10) (10|4|1)
- 1:   Abnormality of forebrain morphology [HP:0100547] <6>(26|32) (30|18|5)
- 1:   Abnormality of the pituitary gland [HP:0012503] <5>(6|7) (7|2|0)
- 1:   Abnormality of pineal morphology [HP:0012681] <4>(0|0) (0|0|0)
- 1:   Holoprosencephaly [HP:0001360] <4>(1|1) (1|0|0)
- 1:   Abnormality of midbrain morphology [HP:0002418] <3>(1|0) (1|0|0)
- 1:   Brain atrophy [HP:0012444] <3>(1|3) (3|2|0)
- 1:   Abnormality of hindbrain morphology [HP:0011282] <2>(5|5) (7|2|1)
- 1:   Iron accumulation in brain [HP:0012675] <2>(0|0) (0|0|0)
- 1:   Copper accumulation in brain [HP:0012676](0|0) (0|0|0)
- 1:   Kernicterus [HP:0001343](0|0) (0|0|0)


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

Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
CCCH zinc finger0Direct
4Fe-4S ferredoxins0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
Ribonuclease PH domain 2-like0Direct
SAND domain-like0Direct
Pseudouridine synthase0Direct
beta and beta-prime subunits of DNA dependent RNA-polymerase0Direct
Fibrinogen coiled-coil and central regions0Direct
Rhodanese/Cell cycle control phosphatase0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
Restriction endonuclease-like0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
Lamin A/C globular tail domain0Direct
ADC-like0Direct
Smc hinge domain0Direct
Ribosomal protein S5 domain 2-like0.003638Inherited
Nucleotidylyl transferase0.00895Inherited
WD40 repeat-like0.01607Inherited
ARM repeat0.02889Inherited
GLA-domain0.03233Inherited
Periplasmic binding protein-like II0.03791Inherited
ARID-like0.0537Inherited
Ypt/Rab-GAP domain of gyp1p0.08917Inherited
SET domain0.09909Inherited
Fibrinogen C-terminal domain-like0.1205Inherited
Class II aaRS and biotin synthetases0.1213Inherited
Adenine nucleotide alpha hydrolases-like0.1384Inherited
NagB/RpiA/CoA transferase-like0.1384Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.2687Inherited
Nucleotide-diphospho-sugar transferases0.2976Inherited
Integrin domains0.3579Inherited
Actin-like ATPase domain0.5313Inherited
Tubulin nucleotide-binding domain-like0.5313Inherited
Ribonuclease H-like0.5313Inherited
C2 domain (Calcium/lipid-binding domain, CaLB)0.5521Inherited
Tubulin C-terminal domain-like0.5655Inherited
p53-like transcription factors0.5759Inherited
Myosin rod fragments0.6846Inherited
Snake toxin-like0.6864Inherited
Homeodomain-like0.6883Inherited
Nuclear receptor ligand-binding domain0.7334Inherited
Cytochrome P4500.956Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
Ribonuclease PH domain 1-like0Direct
Ribonuclease PH domain 2-like0Direct
Protein serine/threonine phosphatase0Direct
IF2B-like0Direct
Translational machinery components0Direct
Histone deacetylase, HDAC0Direct
Fibrinogen coiled-coil and central regions0Direct
Branched-chain alpha-keto acid dehydrogenase PP module0Direct
CAT-like0Direct
SWIRM domain0Direct
EF-G/eEF-2 domains III and V0Direct
Exostosin0Direct
Clathrin adaptor core protein0Direct
Ferredoxin domains from multidomain proteins0Direct
Lamin A/C globular tail domain0Direct
L-aspartase/fumarase0Direct
N-acetyl transferase, NAT0Direct
Long-chain cytokines0Direct
Multidrug efflux transporter AcrB transmembrane domain0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
Smc hinge domain0Direct
Putative glucosidase YicI, domain 30Direct
XPF/Rad1/Mus81 nuclease0Direct
CCCH zinc finger0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
alpha-Amylases, C-terminal beta-sheet domain0Direct
C5 cytosine-specific DNA methylase, DCM0Direct
Elongation factors0Direct
Histone lysine methyltransferases0.003456Inherited
Phosphate binding protein-like0.006485Inherited
Class I aminoacyl-tRNA synthetases (RS), catalytic domain0.008686Inherited
G proteins0.01731Inherited
GLA-domain0.02147Inherited
ARID domain0.03827Inherited
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains0.04187Inherited
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain0.04187Inherited
DNA gyrase/MutL, second domain0.06731Inherited
DNA gyrase/MutL, N-terminal domain0.06731Inherited
Phoshoinositide 3-kinase (PI3K), catalytic domain0.06799Inherited
T-box0.08904Inherited
Fibrinogen C-terminal domain-like0.09114Inherited
Tetramerization domain of potassium channels0.1102Inherited
Tyrosine-dependent oxidoreductases0.1107Inherited
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.1107Inherited
beta-glycanases0.1157Inherited
Ypt/Rab-GAP domain of gyp1p0.1157Inherited
PHD domain0.2664Inherited
Integrin domains0.3054Inherited
Transforming growth factor (TGF)-beta0.3858Inherited
Crotonase-like0.4052Inherited
Transducin (alpha subunit), insertion domain0.4172Inherited
Bromodomain0.4454Inherited
Tubulin, GTPase domain0.479Inherited
Tubulin, C-terminal domain0.5148Inherited
MIR domain0.5406Inherited
Second domain of FERM0.5921Inherited
Actin/HSP700.5975Inherited
Myosin rod fragments0.6368Inherited
Nuclear receptor ligand-binding domain0.6798Inherited
Nuclear receptor0.693Inherited
PDZ domain0.798Inherited
Homeodomain0.8275Inherited
Cytochrome P4500.9071Inherited


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)
tRNA-intron endonuclease catalytic domain-like0Direct
4Fe-4S ferredoxins0Direct
SAND domain-like0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
beta and beta-prime subunits of DNA dependent RNA-polymerase0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
Restriction endonuclease-like0Direct
Pseudouridine synthase0Direct
Rhodanese/Cell cycle control phosphatase0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
Fibrinogen coiled-coil and central regions0Direct
CCCH zinc finger0Direct
Smc hinge domain0Direct
Lamin A/C globular tail domain0Direct
ADC-like0Direct
Ribonuclease PH domain 2-like0Direct
Ribosomal protein S5 domain 2-like0.00214Inherited
Nucleotidylyl transferase0.005719Inherited
HMG-box0.008999Inherited
WD40 repeat-like0.01073Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.01647Inherited
ARM repeat0.0202Inherited
GLA-domain0.02284Inherited
Periplasmic binding protein-like II0.02718Inherited
ARID-like0.03984Inherited
Ypt/Rab-GAP domain of gyp1p0.06927Inherited
SET domain0.07777Inherited
Fibrinogen C-terminal domain-like0.09601Inherited
Class II aaRS and biotin synthetases0.09679Inherited
Adenine nucleotide alpha hydrolases-like0.1121Inherited
NagB/RpiA/CoA transferase-like0.1121Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.2306Inherited
Nucleotide-diphospho-sugar transferases0.2578Inherited
Integrin domains0.3158Inherited
Cystine-knot cytokines0.3188Inherited
Transducin (alpha subunit), insertion domain0.4277Inherited
Bromodomain0.4536Inherited
Ribonuclease H-like0.4871Inherited
Tubulin nucleotide-binding domain-like0.4871Inherited
Actin-like ATPase domain0.4871Inherited
C2 domain (Calcium/lipid-binding domain, CaLB)0.5084Inherited
Tubulin C-terminal domain-like0.5222Inherited
p53-like transcription factors0.5331Inherited
MIR domain0.5482Inherited
PDZ domain-like0.5847Inherited
MHC antigen-recognition domain0.6026Inherited
Myosin rod fragments0.6453Inherited
Snake toxin-like0.6471Inherited
Homeodomain-like0.6491Inherited
Nuclear receptor ligand-binding domain0.6955Inherited
Second domain of FERM0.7479Inherited
Cytochrome P4500.9313Inherited
Immunoglobulin0.9997Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
51230,47005
  • 51230 - Single hybrid motif
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 0Direct
    54897,52743
  • 54897 - Protease propeptides/inhibitors
  • 52743 - Subtilisin-like
  • 0Direct
    57196,90193
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    50447,54980
  • 50447 - Translation proteins
  • 54980 - EF-G C-terminal domain-like
  • 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
    -8,54980
  • -8 - ECOD
  • 54980 - EF-G C-terminal domain-like
  • 0Direct
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0Direct
    51206,51206
  • 51206 - cAMP-binding domain-like
  • 51206 - cAMP-binding domain-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
    52540,50447
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 0Direct
    52540,46785
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 46785 - "Winged helix" DNA-binding domain
  • 0Direct
    50447,-8
  • 50447 - Translation proteins
  • -8 - ECOD
  • 0Direct
    53822,53850
  • 53822 - Periplasmic binding protein-like I
  • 53850 - Periplasmic binding protein-like II
  • 0Direct
    54211,54980
  • 54211 - Ribosomal protein S5 domain 2-like
  • 54980 - EF-G C-terminal domain-like
  • 0Direct
    57184,49899
  • 57184 - Growth factor receptor domain
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0Direct
    52980,47781
  • 52980 - Restriction endonuclease-like
  • 47781 - RuvA domain 2-like
  • 0Direct
    54211,55666
  • 54211 - Ribosomal protein S5 domain 2-like
  • 55666 - Ribonuclease PH domain 2-like
  • 0Direct
    48371,48371
  • 48371 - ARM repeat
  • 48371 - ARM repeat
  • 0.01647Inherited
    47923,47923
  • 47923 - Ypt/Rab-GAP domain of gyp1p
  • 47923 - Ypt/Rab-GAP domain of gyp1p
  • 0.06927Inherited
    55874,54211
  • 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0.06927Inherited
    52374,47323
  • 52374 - Nucleotidylyl transferase
  • 47323 - Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases
  • 0.1121Inherited
    57630,57196
  • 57630 - GLA-domain
  • 57196 - EGF/Laminin
  • 0.119Inherited
    50249,55681
  • 50249 - Nucleic acid-binding proteins
  • 55681 - Class II aaRS and biotin synthetases
  • 0.119Inherited
    55681,52954
  • 55681 - Class II aaRS and biotin synthetases
  • 52954 - Class II aaRS ABD-related
  • 0.2955Inherited
    47895,52540
  • 47895 - Transducin (alpha subunit), insertion domain
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.4277Inherited
    52490,55307
  • 52490 - Tubulin nucleotide-binding domain-like
  • 55307 - Tubulin C-terminal domain-like
  • 0.5222Inherited
    53067,53067
  • 53067 - Actin-like ATPase domain
  • 53067 - Actin-like ATPase domain
  • 0.5222Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.6026Inherited
    50156,50156
  • 50156 - PDZ domain-like
  • 50156 - PDZ domain-like
  • 0.6471Inherited
    57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.919Inherited
    57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.9444Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.9467Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    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
    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
    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
    52540,50447,50465
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain
  • 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
    52540,52540,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.07105Inherited
    57184,57184,57196
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0.119Inherited
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.119Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.7581Inherited
    57535,57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.8306Inherited


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