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Phenotypic Abnormality (PA): Neurodevelopmental abnormality

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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 physiology [HP:0012638] <26>(101|119) (112|81|39)
0:   Neurodevelopmental abnormality [HP:0012759] <5>(36|53) (39|26|12)
- 1:   Intellectual disability [HP:0001249] <6>(11|11) (11|5|2)
- 1:   Neurodevelopmental delay [HP:0012758] <4>(17|30) (18|10|2)
- 1:   Specific learning disability [HP:0001328] <3>(1|3) (3|2|0)
- 1:   Developmental stagnation [HP:0007281] <1>(0|0) (0|0|0)
- 1:   Developmental regression [HP:0002376](0|3) (0|1|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
L-aspartase-like0Direct
Helical domain of Sec23/240Direct
L27 domain0Direct
Putative DNA-binding domain0Direct
PP2C-like0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
Restriction endonuclease-like0Direct
Pseudouridine synthase0Direct
Arginase/deacetylase0Direct
BRK domain-like0Direct
NTF2-like0Direct
Zn-finger domain of Sec23/240Direct
Cytochrome b5-like heme/steroid binding domain0Direct
CCCH zinc finger0Direct
Ribonuclease PH domain 2-like0Direct
RuvA domain 2-like0Direct
JAB1/MPN domain0Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
ADC-like0Direct
Hect, E3 ligase catalytic domain0Direct
Proton glutamate symport protein0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
Multidrug efflux transporter AcrB transmembrane domain0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
Methylglyoxal synthase-like0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
Lamin A/C globular tail domain0Direct
S-adenosyl-L-methionine-dependent methyltransferases0.04168Inherited
GST C-terminal domain-like0.04935Inherited
SET domain0.05111Inherited
Bromodomain0.06274Inherited
Nucleotidylyl transferase0.07432Inherited
ARID-like0.07707Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.1159Inherited
RNA-binding domain, RBD0.6013Inherited


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Family

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SCOP termFDR (all)Annotation (direct or inherited)
XPF/Rad1/Mus81 nuclease0Direct
L27 domain0Direct
beta-glycanases0Direct
Ribonuclease PH domain 1-like0Direct
Multidrug efflux transporter AcrB transmembrane domain0Direct
Trunk domain of Sec23/240Direct
Anticodon-binding domain0Direct
Proton glutamate symport protein0Direct
Zn-finger domain of Sec23/240Direct
Ribonuclease PH domain 2-like0Direct
Lamin A/C globular tail domain0Direct
IF2B-like0Direct
Protein serine/threonine phosphatase0Direct
CCCH zinc finger0Direct
Histone deacetylase, HDAC0Direct
beta-sandwich domain of Sec23/240Direct
Association domain of calcium/calmodulin-dependent protein kinase type II alpha subunit, CAMK2A0Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
Amylase, catalytic domain0Direct
Exostosin0Direct
N-acetyl transferase, NAT0Direct
Ferredoxin domains from multidomain proteins0Direct
JAB1/MPN domain0Direct
Histone lysine methyltransferases0Direct
Double-stranded RNA-binding domain (dsRBD)0Direct
alpha-Amylases, C-terminal beta-sheet domain0Direct
Branched-chain alpha-keto acid dehydrogenase PP module0Direct
CUT domain0Direct
PWWP domain0Direct
SWIRM domain0Direct
L-aspartase/fumarase0Direct
Cytochrome b50Direct
PP2C-like0Direct
Glycosyl transferases group 10Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
BRK domain-like0Direct
Helical domain of Sec23/240Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
Hect, E3 ligase catalytic domain0Direct
Extended AAA-ATPase domain0.0004667Direct
PHD domain0.009387Inherited
HMG-box0.01555Inherited
Bromodomain0.04102Inherited
ARID domain0.0551Inherited
Class I aminoacyl-tRNA synthetases (RS), catalytic domain0.08662Inherited
DNA gyrase/MutL, N-terminal domain0.09017Inherited
DNA gyrase/MutL, second domain0.09017Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.1037Inherited
L-arabinose binding protein-like0.1195Inherited
Phosphate binding protein-like0.13Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.4886Inherited
Nicotinic receptor ligand binding domain-like0.4886Inherited
Canonical RBD0.6817Inherited


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)
L27 domain0Direct
Helical domain of Sec23/240Direct
Restriction endonuclease-like0Direct
Putative DNA-binding domain0Direct
ADC-like0Direct
Arginase/deacetylase0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
Methylglyoxal synthase-like0Direct
Cytochrome b5-like heme/steroid binding domain0Direct
CCCH zinc finger0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
NTF2-like0Direct
Proton glutamate symport protein0Direct
L-aspartase-like0Direct
PP2C-like0Direct
Lamin A/C globular tail domain0Direct
Ribonuclease PH domain 2-like0Direct
Multidrug efflux transporter AcrB transmembrane domain0Direct
RuvA domain 2-like0Direct
Pseudouridine synthase0Direct
JAB1/MPN domain0Direct
Hect, E3 ligase catalytic domain0Direct
BRK domain-like0Direct
Zn-finger domain of Sec23/240Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
HMG-box0.01912Inherited
S-adenosyl-L-methionine-dependent methyltransferases0.03008Inherited
GST C-terminal domain-like0.03635Inherited
SET domain0.03777Inherited
Bromodomain0.04735Inherited
Nucleotidylyl transferase0.05692Inherited
ARID-like0.05924Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.09194Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.5241Inherited
Nicotinic receptor ligand binding domain-like0.5241Inherited
RNA-binding domain, RBD0.5588Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
81811,82754
  • 81811 - Helical domain of Sec23/24
  • 82754 - C-terminal, gelsolin-like domain of Sec23/24
  • 0Direct
    141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    81995,81811
  • 81995 - beta-sandwich domain of Sec23/24
  • 81811 - Helical domain of Sec23/24
  • 0Direct
    57889,48350
  • 57889 - Cysteine-rich domain
  • 48350 - GTPase activation domain, GAP
  • 0Direct
    47473,103506
  • 47473 - EF-hand
  • 103506 - Mitochondrial carrier
  • 0Direct
    54160,52540
  • 54160 - Chromo domain-like
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0Direct
    54160,54160
  • 54160 - Chromo domain-like
  • 54160 - Chromo domain-like
  • 0Direct
    53300,81995
  • 53300 - vWA-like
  • 81995 - beta-sandwich domain of Sec23/24
  • 0Direct
    53822,53850
  • 53822 - Periplasmic binding protein-like I
  • 53850 - Periplasmic binding protein-like II
  • 0Direct
    50249,55681
  • 50249 - Nucleic acid-binding proteins
  • 55681 - Class II aaRS and biotin synthetases
  • 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
    50447,50465
  • 50447 - Translation proteins
  • 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain
  • 0Direct
    51905,55424
  • 51905 - FAD/NAD(P)-binding domain
  • 55424 - FAD/NAD-linked reductases, dimerisation (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
    52518,52518
  • 52518 - Thiamin diphosphate-binding fold (THDP-binding)
  • 52518 - Thiamin diphosphate-binding fold (THDP-binding)
  • 0Direct
    82919,53300
  • 82919 - Zn-finger domain of Sec23/24
  • 53300 - vWA-like
  • 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
    52096,52096
  • 52096 - ClpP/crotonase
  • 52096 - ClpP/crotonase
  • 0Direct
    54768,54768
  • 54768 - dsRNA-binding domain-like
  • 54768 - dsRNA-binding domain-like
  • 0Direct
    52540,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.0001047Direct
    55874,54211
  • 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0.09539Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.5241Inherited
    54928,54928
  • 54928 - RNA-binding domain, RBD
  • 54928 - RNA-binding domain, RBD
  • 0.8567Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    54160,52540,52540
  • 54160 - Chromo domain-like
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0Direct
    49899,57196,49899
  • 49899 - Concanavalin A-like lectins/glucanases
  • 57196 - EGF/Laminin
  • 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
    53300,81995,81811
  • 53300 - vWA-like
  • 81995 - beta-sandwich domain of Sec23/24
  • 81811 - Helical domain of Sec23/24
  • 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
    81995,81811,82754
  • 81995 - beta-sandwich domain of Sec23/24
  • 81811 - Helical domain of Sec23/24
  • 82754 - C-terminal, gelsolin-like domain of Sec23/24
  • 0Direct
    141072,141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    57196,57581,57196
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    54160,54160,52540
  • 54160 - Chromo domain-like
  • 54160 - Chromo domain-like
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0Direct
    57196,57581,57184
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57196,57196,57581
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct


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