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Phenotypic Abnormality (PA): Abnormality of the eye

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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)
+ 1:   Phenotypic abnormality [HP:0000118] <25>
0:   Abnormality of the eye [HP:0000478] <2>(58|72) (64|38|25)
- 1:   Abnormal eye physiology [HP:0012373] <17>(32|45) (34|24|19)
- 1:   Abnormal eye morphology [HP:0012372] <12>(36|45) (40|29|21)


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

Superfamily

(show details)
SCOP termFDR (all)Annotation (direct or inherited)
Actin depolymerizing proteins0Direct
Cyclophilin-like0Direct
Zn-finger domain of Sec23/240Direct
Pseudouridine synthase0Direct
Hect, E3 ligase catalytic domain0Direct
Putative DNA-binding domain0Direct
Helical domain of Sec23/240Direct
Toll/Interleukin receptor TIR domain0Direct
Smc hinge domain0Direct
4Fe-4S ferredoxins0Direct
Restriction endonuclease-like0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
tRNA-intron endonuclease catalytic domain-like0Direct
Tricorn protease domain 20Direct
FKBP-like0Direct
Connexin430Direct
Rhodanese/Cell cycle control phosphatase0Direct
beta and beta-prime subunits of DNA dependent RNA-polymerase0Direct
Notch domain0Direct
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0Direct
Ribonuclease PH domain 2-like0Direct
BPTI-like0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
gamma-Crystallin-like0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
ADC-like0Direct
Homeodomain-like0.03071Inherited
Ribosomal protein S5 domain 2-like0.04483Inherited
SCOP hierarchy in SUPERFAMILY0.0809Inherited
Nicotinic receptor ligand binding domain-like0.08866Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.08866Inherited
ARID-like0.1257Inherited
Concanavalin A-like lectins/glucanases0.1292Inherited
Nucleotide-diphospho-sugar transferases0.1497Inherited
MHC antigen-recognition domain0.1609Inherited
Multidrug efflux transporter AcrB transmembrane domain0.1781Inherited
GroEL apical domain-like0.1781Inherited
GroEL equatorial domain-like0.1781Inherited
CalX-like0.1781Inherited
TB module/8-cys domain0.1781Inherited
PDZ domain-like0.1987Inherited
RING/U-box0.2222Inherited
cAMP-binding domain-like0.2276Inherited
GAF domain-like0.2515Inherited
RuvA domain 2-like0.2515Inherited
Intermediate filament protein, coiled coil region0.3951Inherited
(Trans)glycosidases0.3954Inherited
C-type lectin-like0.4178Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.502Inherited
vWA-like0.5428Inherited
RNI-like0.5855Inherited
Glycosyl hydrolase domain0.5923Inherited
FnI-like domain0.6882Inherited
TNF receptor-like0.7393Inherited
Immunoglobulin0.7512Inherited
EGF/Laminin0.8156Inherited
Family A G protein-coupled receptor-like0.8959Inherited
DEATH domain0.9307Inherited


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

Family

(show details)
SCOP termFDR (all)Annotation (direct or inherited)
Notch domain0Direct
Crystallins/Ca-binding development proteins0Direct
XPF/Rad1/Mus81 nuclease0Direct
PWWP domain0Direct
Protein serine/threonine phosphatase0Direct
Glycosyl transferases group 10Direct
Inositol polyphosphate 5-phosphatase (IPP5)0Direct
Helical domain of Sec23/240Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
Ypt/Rab-GAP domain of gyp1p0Direct
Toll/Interleukin receptor TIR domain0Direct
Hect, E3 ligase catalytic domain0Direct
Ferredoxin domains from multidomain proteins0Direct
Zn-finger domain of Sec23/240Direct
beta-glycanases0Direct
Smc hinge domain0Direct
VWC domain0Direct
Ribonuclease PH domain 1-like0Direct
IF2B-like0Direct
RhoGDI-like0Direct
p120GAP domain-like0Direct
Ribonuclease PH domain 2-like0Direct
Proteasome subunits0Direct
Clathrin adaptor core protein0Direct
FKBP immunophilin/proline isomerase0Direct
beta-sandwich domain of Sec23/240Direct
Neurotrophin0Direct
Prefoldin0Direct
Connexin430Direct
Multidrug efflux transporter AcrB transmembrane domain0Direct
C5 cytosine-specific DNA methylase, DCM0Direct
Small Kunitz-type inhibitors & BPTI-like toxins0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
Trunk domain of Sec23/240Direct
Histone deacetylase, HDAC0Direct
Laminin G-like module0.0171Inherited
Homeodomain0.0244Inherited
G proteins0.02729Inherited
PHD domain0.044Inherited
C1 set domains (antibody constant domain-like)0.04988Inherited
Extended AAA-ATPase domain0.05289Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.07028Inherited
Nicotinic receptor ligand binding domain-like0.07028Inherited
Fibroblast growth factors (FGF)0.07041Inherited
Histone lysine methyltransferases0.0972Inherited
ARID domain0.1022Inherited
RecA protein-like (ATPase-domain)0.1335Inherited
MHC antigen-recognition domain0.1335Inherited
cAMP-binding domain0.1475Inherited
TB module/8-cys domain0.1488Inherited
DNA gyrase/MutL, second domain0.1488Inherited
CalX-beta domain0.1488Inherited
DNA gyrase/MutL, N-terminal domain0.1488Inherited
Transglutaminase core0.1817Inherited
BCR-homology GTPase activation domain (BH-domain)0.192Inherited
GAF domain0.217Inherited
FHA domain0.2487Inherited
Arylsulfatase0.2487Inherited
Noncollagenous (NC1) domain of collagen IV0.327Inherited
Intermediate filament protein, coiled coil region0.3542Inherited
Bromodomain0.4027Inherited
Caspase recruitment domain, CARD0.4331Inherited
Pyrin domain, PYD0.4331Inherited
PDZ domain0.4404Inherited
28-residue LRR0.4622Inherited
EGF-type module0.5178Inherited
Integrin A (or I) domain0.7641Inherited
I set domains0.7738Inherited
DEATH domain, DD0.8729Inherited
TSP-1 type 1 repeat0.8883Inherited
Rhodopsin-like0.9259Inherited


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)

(show details)
Supra-domain (Single) FDR (all) Annotation (direct or inherited)
Pseudouridine synthase0Direct
4Fe-4S ferredoxins0Direct
Hect, E3 ligase catalytic domain0Direct
Connexin430Direct
Notch domain0Direct
BPTI-like0Direct
Zn-finger domain of Sec23/240Direct
Helical domain of Sec23/240Direct
ADC-like0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Cyclophilin-like0Direct
Putative DNA-binding domain0Direct
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0Direct
beta and beta-prime subunits of DNA dependent RNA-polymerase0Direct
Ribonuclease PH domain 2-like0Direct
Smc hinge domain0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
Toll/Interleukin receptor TIR domain0Direct
Actin depolymerizing proteins0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
FKBP-like0Direct
Tricorn protease domain 20Direct
Restriction endonuclease-like0Direct
Rhodanese/Cell cycle control phosphatase0Direct
gamma-Crystallin-like0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
Ribonuclease H-like0.008903Inherited
WD40 repeat-like0.01435Inherited
Homeodomain-like0.022Inherited
Ribosomal protein S5 domain 2-like0.03308Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.06956Inherited
Nicotinic receptor ligand binding domain-like0.06956Inherited
beta-beta-alpha zinc fingers0.08187Inherited
ARID-like0.1014Inherited
Concanavalin A-like lectins/glucanases0.1045Inherited
Nucleotide-diphospho-sugar transferases0.1228Inherited
MHC antigen-recognition domain0.1327Inherited
GroEL equatorial domain-like0.1478Inherited
CalX-like0.1478Inherited
TB module/8-cys domain0.1478Inherited
Multidrug efflux transporter AcrB transmembrane domain0.1478Inherited
GroEL apical domain-like0.1478Inherited
PDZ domain-like0.1668Inherited
RING/U-box0.1886Inherited
cAMP-binding domain-like0.1936Inherited
GAF domain-like0.2157Inherited
RuvA domain 2-like0.2157Inherited
Voltage-gated potassium channels0.2289Inherited
Intermediate filament protein, coiled coil region0.3536Inherited
(Trans)glycosidases0.354Inherited
C-type lectin-like0.3758Inherited
Bromodomain0.4005Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.4588Inherited
vWA-like0.5001Inherited
Protein kinase-like (PK-like)0.5366Inherited
RNI-like0.5436Inherited
Glycosyl hydrolase domain0.5505Inherited
FnI-like domain0.6495Inherited
TNF receptor-like0.7027Inherited
Immunoglobulin0.7152Inherited
SH3-domain0.7397Inherited
EGF/Laminin0.7828Inherited
Family A G protein-coupled receptor-like0.867Inherited
DEATH domain0.9036Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
57184,49899
  • 57184 - Growth factor receptor domain
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0Direct
    81811,82754
  • 81811 - Helical domain of Sec23/24
  • 82754 - C-terminal, gelsolin-like domain of Sec23/24
  • 0Direct
    50447,50465
  • 50447 - Translation proteins
  • 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain
  • 0Direct
    82919,53300
  • 82919 - Zn-finger domain of Sec23/24
  • 53300 - vWA-like
  • 0Direct
    57196,90193
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    81995,81811
  • 81995 - beta-sandwich domain of Sec23/24
  • 81811 - Helical domain of Sec23/24
  • 0Direct
    54211,55666
  • 54211 - Ribosomal protein S5 domain 2-like
  • 55666 - Ribonuclease PH domain 2-like
  • 0Direct
    47923,47923
  • 47923 - Ypt/Rab-GAP domain of gyp1p
  • 47923 - Ypt/Rab-GAP domain of gyp1p
  • 0Direct
    64268,50044
  • 64268 - PX domain
  • 50044 - SH3-domain
  • 0Direct
    53098,56672
  • 53098 - Ribonuclease H-like
  • 56672 - DNA/RNA polymerases
  • 0Direct
    52980,47781
  • 52980 - Restriction endonuclease-like
  • 47781 - RuvA domain 2-like
  • 0Direct
    49562,48350
  • 49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
  • 48350 - GTPase activation domain, GAP
  • 0Direct
    53300,81995
  • 53300 - vWA-like
  • 81995 - beta-sandwich domain of Sec23/24
  • 0Direct
    52058,48726
  • 52058 - L domain-like
  • 48726 - Immunoglobulin
  • 0Direct
    141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    49899,49899
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0.03505Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.06956Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.08286Inherited
    48371,48371
  • 48371 - ARM repeat
  • 48371 - ARM repeat
  • 0.09651Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.1327Inherited
    57581,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0.1478Inherited
    55874,54211
  • 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0.1478Inherited
    57196,63825
  • 57196 - EGF/Laminin
  • 63825 - YWTD domain
  • 0.1478Inherited
    57196,57581
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0.1478Inherited
    50156,50156
  • 50156 - PDZ domain-like
  • 50156 - PDZ domain-like
  • 0.1806Inherited
    57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.191Inherited
    55781,55781
  • 55781 - GAF domain-like
  • 55781 - GAF domain-like
  • 0.2157Inherited
    51206,51206
  • 51206 - cAMP-binding domain-like
  • 51206 - cAMP-binding domain-like
  • 0.2157Inherited
    55781,109604
  • 55781 - GAF domain-like
  • 109604 - HD-domain/PDEase-like
  • 0.2157Inherited
    82895,82895
  • 82895 - TSP-1 type 1 repeat
  • 82895 - TSP-1 type 1 repeat
  • 0.306Inherited
    64593,64593
  • 64593 - Intermediate filament protein, coiled coil region
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.3776Inherited
    56436,56436
  • 56436 - C-type lectin-like
  • 56436 - C-type lectin-like
  • 0.4026Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.4296Inherited
    47986,52540
  • 47986 - DEATH domain
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.4296Inherited
    57184,57196
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0.505Inherited
    51445,51011
  • 51445 - (Trans)glycosidases
  • 51011 - Glycosyl hydrolase domain
  • 0.5505Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.6137Inherited
    57586,57586
  • 57586 - TNF receptor-like
  • 57586 - TNF receptor-like
  • 0.6787Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    57184,57184,57196
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0Direct
    57196,57581,57196
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    57196,57196,57581
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys 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
    53300,81995,81811
  • 53300 - vWA-like
  • 81995 - beta-sandwich domain of Sec23/24
  • 81811 - Helical domain of Sec23/24
  • 0Direct
    57196,57581,57184
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 57184 - Growth factor receptor domain
  • 0Direct
    57196,57196,90193
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    52058,48726,48726
  • 52058 - L domain-like
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0Direct
    57424,57184,63825
  • 57424 - LDL receptor-like module
  • 57184 - Growth factor receptor domain
  • 63825 - YWTD domain
  • 0Direct
    141072,141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0Direct
    57184,49899,49899
  • 57184 - Growth factor receptor domain
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0Direct
    49899,57196,49899
  • 49899 - Concanavalin A-like lectins/glucanases
  • 57196 - EGF/Laminin
  • 49899 - Concanavalin A-like lectins/glucanases
  • 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
    57424,57424,57184
  • 57424 - LDL receptor-like module
  • 57424 - LDL receptor-like module
  • 57184 - Growth factor receptor domain
  • 0Direct
    57196,57184,57196
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0.06875Inherited
    57196,57184,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.06875Inherited
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.06957Inherited
    57581,57196,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.1478Inherited
    57581,57196,57581
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0.1478Inherited
    57184,57196,57196
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.1806Inherited
    82895,82895,82895
  • 82895 - TSP-1 type 1 repeat
  • 82895 - TSP-1 type 1 repeat
  • 82895 - TSP-1 type 1 repeat
  • 0.191Inherited
    55781,55781,109604
  • 55781 - GAF domain-like
  • 55781 - GAF domain-like
  • 109604 - HD-domain/PDEase-like
  • 0.2157Inherited
    57196,57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.4122Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.5543Inherited


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