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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>(147|170) (164|102|45)
+ + 2:   Abnormality of nervous system morphology [HP:0012639] <5>(70|97) (81|48|16)
+ 1:   Morphological abnormality of the central nervous system [HP:0002011] <17>(61|85) (71|41|16)
0:   Abnormality of brain morphology [HP:0012443] <13>(44|63) (54|31|14)
- 1:   Abnormality of the cerebral ventricles [HP:0002118] <11>(3|4) (4|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) (11|4|1)
- 1:   Abnormality of forebrain morphology [HP:0100547] <6>(26|28) (29|15|4)
- 1:   Abnormality of the pituitary gland [HP:0012503] <5>(6|8) (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) (2|2|0)
- 1:   Abnormality of hindbrain morphology [HP:0011282] <2>(5|6) (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)
Ribonuclease PH domain 2-like0Direct
beta and beta-prime subunits of DNA dependent RNA-polymerase0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
Lamin A/C globular tail domain0Direct
SAND domain-like0Direct
Restriction endonuclease-like0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Pseudouridine synthase0Direct
4Fe-4S ferredoxins0Direct
CCCH zinc finger0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
Rhodanese/Cell cycle control phosphatase0Direct
ThrRS/AlaRS common domain0Direct
ADC-like0Direct
Smc hinge domain0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
Subtilisin-like0Direct
Fibrinogen coiled-coil and central regions0Direct
Nucleotidylyl transferase0.00342Inherited
Ribosomal protein S5 domain 2-like0.005482Inherited
WD40 repeat-like0.02212Inherited
ARM repeat0.02865Inherited
GLA-domain0.03103Inherited
ARID-like0.0519Inherited
Class II aaRS and biotin synthetases0.07848Inherited
Fibrinogen C-terminal domain-like0.1163Inherited
SET domain0.1286Inherited
NagB/RpiA/CoA transferase-like0.1346Inherited
Adenine nucleotide alpha hydrolases-like0.1346Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.261Inherited
Integrin domains0.3494Inherited
Tubulin nucleotide-binding domain-like0.5204Inherited
C2 domain (Calcium/lipid-binding domain, CaLB)0.5374Inherited
Ribonuclease H-like0.5553Inherited
Tubulin C-terminal domain-like0.5553Inherited
Actin-like ATPase domain0.5553Inherited
p53-like transcription factors0.5873Inherited
Nucleotide-diphospho-sugar transferases0.5873Inherited
Homeodomain-like0.6318Inherited
Myosin rod fragments0.6761Inherited
Snake toxin-like0.6774Inherited
Nuclear receptor ligand-binding domain0.7208Inherited
Cytochrome P4500.9528Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
XPF/Rad1/Mus81 nuclease0Direct
Ribonuclease PH domain 1-like0Direct
Putative glucosidase YicI, domain 30Direct
Ferredoxin domains from multidomain proteins0Direct
Multidrug efflux transporter AcrB transmembrane domain0Direct
Smc hinge domain0Direct
alpha-Amylases, C-terminal beta-sheet domain0Direct
Long-chain cytokines0Direct
Translational machinery components0Direct
Subtilases0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
C5 cytosine-specific DNA methylase, DCM0Direct
Fibrinogen coiled-coil and central regions0Direct
Clathrin adaptor core protein0Direct
IF2B-like0Direct
N-acetyl transferase, NAT0Direct
CCCH zinc finger0Direct
CAT-like0Direct
Histone deacetylase, HDAC0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Branched-chain alpha-keto acid dehydrogenase PP module0Direct
Ribonuclease PH domain 2-like0Direct
Lamin A/C globular tail domain0Direct
L-aspartase/fumarase0Direct
SWIRM domain0Direct
EF-G/eEF-2 domains III and V0Direct
Protein serine/threonine phosphatase0Direct
Elongation factors0Direct
Class I aminoacyl-tRNA synthetases (RS), catalytic domain0.00297Inherited
Histone lysine methyltransferases0.003254Inherited
HMG-box0.01139Inherited
G proteins0.01454Inherited
GLA-domain0.02073Inherited
ARID domain0.03709Inherited
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain0.04041Inherited
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains0.04041Inherited
DNA gyrase/MutL, second domain0.06553Inherited
DNA gyrase/MutL, N-terminal domain0.06553Inherited
Phoshoinositide 3-kinase (PI3K), catalytic domain0.06589Inherited
Fibrinogen C-terminal domain-like0.08803Inherited
Tyrosine-dependent oxidoreductases0.106Inherited
Tetramerization domain of potassium channels0.1064Inherited
beta-glycanases0.1131Inherited
T-box0.1214Inherited
PHD domain0.2775Inherited
Extended AAA-ATPase domain0.2775Inherited
Integrin domains0.2986Inherited
Transforming growth factor (TGF)-beta0.3753Inherited
Crotonase-like0.3991Inherited
Transducin (alpha subunit), insertion domain0.4095Inherited
Bromodomain0.4361Inherited
Tubulin, GTPase domain0.4693Inherited
Tubulin, C-terminal domain0.5055Inherited
MIR domain0.5326Inherited
Second domain of FERM0.5823Inherited
Myosin rod fragments0.6293Inherited
Actin/HSP700.6357Inherited
Nuclear receptor ligand-binding domain0.6682Inherited
Nuclear receptor0.6819Inherited
Homeodomain0.7489Inherited
PDZ domain0.7904Inherited
Cytochrome P4500.9015Inherited


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)
Subtilisin-like0Direct
Rhodanese/Cell cycle control phosphatase0Direct
SAND domain-like0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
ADC-like0Direct
Smc hinge domain0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
Restriction endonuclease-like0Direct
Lamin A/C globular tail domain0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
Fibrinogen coiled-coil and central regions0Direct
beta and beta-prime subunits of DNA dependent RNA-polymerase0Direct
Ribonuclease PH domain 2-like0Direct
CCCH zinc finger0Direct
4Fe-4S ferredoxins0Direct
ThrRS/AlaRS common domain0Direct
Pseudouridine synthase0Direct
Nucleotidylyl transferase0.002043Inherited
Ribosomal protein S5 domain 2-like0.003406Inherited
HMG-box0.01291Inherited
WD40 repeat-like0.01531Inherited
ARM repeat0.02018Inherited
GLA-domain0.02206Inherited
ARID-like0.03874Inherited
Class II aaRS and biotin synthetases0.06064Inherited
Fibrinogen C-terminal domain-like0.09288Inherited
SET domain0.1039Inherited
NagB/RpiA/CoA transferase-like0.1093Inherited
Adenine nucleotide alpha hydrolases-like0.1093Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.2245Inherited
Cystine-knot cytokines0.3086Inherited
Integrin domains0.3088Inherited
Transducin (alpha subunit), insertion domain0.4201Inherited
Bromodomain0.4438Inherited
Tubulin nucleotide-binding domain-like0.4769Inherited
C2 domain (Calcium/lipid-binding domain, CaLB)0.4945Inherited
Actin-like ATPase domain0.513Inherited
Ribonuclease H-like0.513Inherited
Tubulin C-terminal domain-like0.513Inherited
MIR domain0.5414Inherited
p53-like transcription factors0.5453Inherited
Nucleotide-diphospho-sugar transferases0.5453Inherited
PDZ domain-like0.5716Inherited
Homeodomain-like0.5921Inherited
MHC antigen-recognition domain0.5941Inherited
Myosin rod fragments0.6374Inherited
Snake toxin-like0.6389Inherited
Nuclear receptor ligand-binding domain0.6834Inherited
Second domain of FERM0.7388Inherited
Cytochrome P4500.9273Inherited
Complement control module/SCR domain0.9826Inherited
Immunoglobulin0.9995Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
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
    141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    52540,50447
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 0Direct
    51206,51206
  • 51206 - cAMP-binding domain-like
  • 51206 - cAMP-binding domain-like
  • 0Direct
    -8,54980
  • -8 - ECOD
  • 54980 - EF-G C-terminal domain-like
  • 0Direct
    47923,47923
  • 47923 - Ypt/Rab-GAP domain of gyp1p
  • 47923 - Ypt/Rab-GAP domain of gyp1p
  • 0Direct
    57184,49899
  • 57184 - Growth factor receptor domain
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0Direct
    57196,90193
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    54211,54980
  • 54211 - Ribosomal protein S5 domain 2-like
  • 54980 - EF-G C-terminal domain-like
  • 0Direct
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0Direct
    54980,54211
  • 54980 - EF-G C-terminal domain-like
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0Direct
    52980,47781
  • 52980 - Restriction endonuclease-like
  • 47781 - RuvA domain 2-like
  • 0Direct
    54897,52743
  • 54897 - Protease propeptides/inhibitors
  • 52743 - Subtilisin-like
  • 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
    47005,52777
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    53822,53850
  • 53822 - Periplasmic binding protein-like I
  • 53850 - Periplasmic binding protein-like II
  • 0Direct
    51230,47005
  • 51230 - Single hybrid motif
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 0Direct
    48371,48371
  • 48371 - ARM repeat
  • 48371 - ARM repeat
  • 0.01573Inherited
    55874,54211
  • 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0.06762Inherited
    52374,47323
  • 52374 - Nucleotidylyl transferase
  • 47323 - Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases
  • 0.1093Inherited
    57630,57196
  • 57630 - GLA-domain
  • 57196 - EGF/Laminin
  • 0.1167Inherited
    47895,52540
  • 47895 - Transducin (alpha subunit), insertion domain
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.4201Inherited
    52490,55307
  • 52490 - Tubulin nucleotide-binding domain-like
  • 55307 - Tubulin C-terminal domain-like
  • 0.513Inherited
    53067,53067
  • 53067 - Actin-like ATPase domain
  • 53067 - Actin-like ATPase domain
  • 0.5516Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.5941Inherited
    50156,50156
  • 50156 - PDZ domain-like
  • 50156 - PDZ domain-like
  • 0.6389Inherited
    57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.914Inherited
    57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.9412Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.9453Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    52540,50447,50465
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain
  • 0Direct
    57184,49899,49899
  • 57184 - Growth factor receptor domain
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 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
    50447,-8,54980
  • 50447 - Translation proteins
  • -8 - ECOD
  • 54980 - EF-G C-terminal domain-like
  • 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
    49899,49899,57196
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 57196 - EGF/Laminin
  • 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
  • 0.06879Inherited
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.1167Inherited
    57184,57184,57196
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0.1167Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.7914Inherited
    57535,57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.8252Inherited


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