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Phenotypic Abnormality (PA): Aplasia/Hypoplasia involving 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)
+ + + + 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:   Aplasia/Hypoplasia involving the central nervous system [HP:0002977] <13>(19|26) (23|13|3)
- 1:   Aplasia/Hypoplasia of the cerebrum [HP:0007364] <5>(13|19) (14|7|1)
- 1:   Atrophy/Degeneration affecting the cerebrum [HP:0007369] <5>(1|3) (3|2|0)
- 1:   Aplasia/Hypoplasia of the cerebellum [HP:0007360] <2>(0|1) (1|1|0)
- 1:   Aplasia/Hypoplasia of the optic tract [HP:0011000] <2>(0|0) (0|0|0)
- 1:   Aplasia/Hypoplasia of the pyramidal tract [HP:0007363] <2>(0|0) (0|0|0)
- 1:   Aplasia/Hypoplasia involving the corticospinal tracts [HP:0007365] <1>(0|0) (0|0|0)
- 1:   Aplasia/Hypoplasia of the brainstem [HP:0007362] <1>(2|2) (2|1|0)
- 1:   Optic nerve hypoplasia [HP:0000609] <1>(1|1) (1|0|0)
- 1:   Agenesis of pineal gland [HP:0012687](0|0) (0|0|0)
- 1:   Global brain atrophy [HP:0002283](0|0) (0|0|0)
- 1:   Hypoplasia of olfactory tract [HP:0007036](0|0) (0|0|0)
- 1:   Hypoplasia of the olfactory bulb [HP:0040326](0|0) (0|0|0)
- 1:   Hypoplastic olfactory lobes [HP:0006894](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)
Smc hinge domain0Direct
Restriction endonuclease-like0Direct
Pseudouridine synthase0Direct
beta and beta-prime subunits of DNA dependent RNA-polymerase0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
ADC-like0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
WD40 repeat-like0.00009622Direct
ARID-like0.01005Inherited
Nucleotidylyl transferase0.01972Inherited
Tubulin nucleotide-binding domain-like0.03993Inherited
Class II aaRS and biotin synthetases0.04915Inherited
Tubulin C-terminal domain-like0.05723Inherited
Periplasmic binding protein-like II0.07768Inherited
Actin-like ATPase domain0.1509Inherited
NagB/RpiA/CoA transferase-like0.2058Inherited
Ribonuclease H-like0.3376Inherited
Homeodomain-like0.3732Inherited


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Family

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SCOP termFDR (all)Annotation (direct or inherited)
XPF/Rad1/Mus81 nuclease0Direct
Smc hinge domain0Direct
IF2B-like0Direct
Protein serine/threonine phosphatase0Direct
Histone deacetylase, HDAC0Direct
Clathrin adaptor core protein0Direct
Exostosin0Direct
N-acetyl transferase, NAT0Direct
Ferredoxin domains from multidomain proteins0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
SWIRM domain0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Class I aminoacyl-tRNA synthetases (RS), catalytic domain0.00006553Direct
ARID domain0.005311Inherited
Bromodomain0.01548Inherited
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.0156Inherited
Tubulin, GTPase domain0.0231Inherited
Ypt/Rab-GAP domain of gyp1p0.03393Inherited
Elongation factors0.03436Inherited
Tubulin, C-terminal domain0.03479Inherited
Phosphate binding protein-like0.05079Inherited
PHD domain0.1679Inherited
MIR domain0.2366Inherited
Homeodomain0.4096Inherited
PDZ domain0.4675Inherited
T-box0.4803Inherited


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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)
Restriction endonuclease-like0Direct
ADC-like0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
Smc hinge domain0Direct
Pseudouridine synthase0Direct
beta and beta-prime subunits of DNA dependent RNA-polymerase0Direct
WD40 repeat-like0.00004443Direct
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.0007418Direct
ARID-like0.006474Inherited
Nucleotidylyl transferase0.0134Inherited
Bromodomain0.01986Inherited
Tubulin nucleotide-binding domain-like0.02876Inherited
Class II aaRS and biotin synthetases0.03618Inherited
Tubulin C-terminal domain-like0.04278Inherited
Periplasmic binding protein-like II0.05972Inherited
Actin-like ATPase domain0.1233Inherited
NagB/RpiA/CoA transferase-like0.1726Inherited
PDZ domain-like0.2265Inherited
MIR domain0.2563Inherited
Ribonuclease H-like0.2962Inherited
Homeodomain-like0.3304Inherited

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Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    53822,53850
  • 53822 - Periplasmic binding protein-like I
  • 53850 - Periplasmic binding protein-like II
  • 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
    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
    52374,47323
  • 52374 - Nucleotidylyl transferase
  • 47323 - Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases
  • 0.02283Inherited
    50249,55681
  • 50249 - Nucleic acid-binding proteins
  • 55681 - Class II aaRS and biotin synthetases
  • 0.03766Inherited
    52540,50447
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 0.0416Inherited
    52490,55307
  • 52490 - Tubulin nucleotide-binding domain-like
  • 55307 - Tubulin C-terminal domain-like
  • 0.04278Inherited
    55681,52954
  • 55681 - Class II aaRS and biotin synthetases
  • 52954 - Class II aaRS ABD-related
  • 0.09504Inherited
    53067,53067
  • 53067 - Actin-like ATPase domain
  • 53067 - Actin-like ATPase domain
  • 0.1633Inherited
    50156,50156
  • 50156 - PDZ domain-like
  • 50156 - PDZ domain-like
  • 0.3682Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    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
    141072,141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct


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