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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>(63|76) (67|38|28)
- 1:   Abnormal eye physiology [HP:0012373] <17>(33|46) (37|22|20)
- 1:   Abnormal eye morphology [HP:0012372] <12>(39|47) (39|30|23)


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Superfamily

(show details)
SCOP termFDR (all)Annotation (direct or inherited)
C-terminal, gelsolin-like domain of Sec23/240Direct
Smc hinge domain0Direct
Pseudouridine synthase0Direct
Notch domain0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
Cyclophilin-like0Direct
ADC-like0Direct
Rhodanese/Cell cycle control phosphatase0Direct
Actin depolymerizing proteins0Direct
BPTI-like0Direct
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0Direct
Restriction endonuclease-like0Direct
Putative DNA-binding domain0Direct
Helical domain of Sec23/240Direct
4Fe-4S ferredoxins0Direct
Ribonuclease PH domain 2-like0Direct
Tricorn protease domain 20Direct
gamma-Crystallin-like0Direct
Hect, E3 ligase catalytic domain0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
beta and beta-prime subunits of DNA dependent RNA-polymerase0Direct
Zn-finger domain of Sec23/240Direct
Connexin430Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
FKBP-like0Direct
Nucleoside diphosphate kinase, NDK0Direct
RUN domain-like0Direct
TPR-like0.0004823Direct
Homeodomain-like0.02833Inherited
Ribosomal protein S5 domain 2-like0.04349Inherited
Concanavalin A-like lectins/glucanases0.07628Inherited
SCOP hierarchy in SUPERFAMILY0.1183Inherited
ARID-like0.1238Inherited
RING/U-box0.1297Inherited
Nicotinic receptor ligand binding domain-like0.1448Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.1448Inherited
CalX-like0.1757Inherited
GroEL apical domain-like0.1757Inherited
GroEL equatorial domain-like0.1757Inherited
TB module/8-cys domain0.1757Inherited
Multidrug efflux transporter AcrB transmembrane domain0.1757Inherited
Nucleotide-diphospho-sugar transferases0.2056Inherited
cAMP-binding domain-like0.2235Inherited
GAF domain-like0.2489Inherited
RuvA domain 2-like0.2489Inherited
Intermediate filament protein, coiled coil region0.3852Inherited
MHC antigen-recognition domain0.414Inherited
Growth factor receptor domain0.4362Inherited
(Trans)glycosidases0.4786Inherited
vWA-like0.4804Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.4975Inherited
C-type lectin-like0.5077Inherited
Glycosyl hydrolase domain0.5878Inherited
RNI-like0.6104Inherited
FnI-like domain0.682Inherited
LDL receptor-like module0.7575Inherited
Immunoglobulin0.7685Inherited
EGF/Laminin0.8046Inherited
TNF receptor-like0.8217Inherited
SMAD/FHA domain0.8593Inherited
DEATH domain0.8968Inherited
Complement control module/SCR domain0.9862Inherited
Family A G protein-coupled receptor-like1Inherited


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

Family

(show details)
SCOP termFDR (all)Annotation (direct or inherited)
beta-glycanases0Direct
Ferredoxin domains from multidomain proteins0Direct
Glycosyl transferases group 10Direct
beta-sandwich domain of Sec23/240Direct
Proteasome subunits0Direct
FKBP immunophilin/proline isomerase0Direct
Prefoldin0Direct
RhoGDI-like0Direct
Smc hinge domain0Direct
VWC domain0Direct
IF2B-like0Direct
Neurotrophin0Direct
XPF/Rad1/Mus81 nuclease0Direct
p120GAP domain-like0Direct
Multidrug efflux transporter AcrB transmembrane domain0Direct
PWWP domain0Direct
RUN domain0Direct
Histone deacetylase, HDAC0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
Ribonuclease PH domain 1-like0Direct
Crystallins/Ca-binding development proteins0Direct
Ribonuclease PH domain 2-like0Direct
Small Kunitz-type inhibitors & BPTI-like toxins0Direct
Clathrin adaptor core protein0Direct
Hect, E3 ligase catalytic domain0Direct
Trunk domain of Sec23/240Direct
Connexin430Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Inositol polyphosphate 5-phosphatase (IPP5)0Direct
Zn-finger domain of Sec23/240Direct
Notch domain0Direct
C5 cytosine-specific DNA methylase, DCM0Direct
Protein serine/threonine phosphatase0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
Helical domain of Sec23/240Direct
Tetratricopeptide repeat (TPR)0.00002622Direct
G proteins0.01526Inherited
Laminin G-like module0.01597Inherited
Homeodomain0.02044Inherited
PHD domain0.0406Inherited
Extended AAA-ATPase domain0.04907Inherited
Fibroblast growth factors (FGF)0.06677Inherited
Histone lysine methyltransferases0.09247Inherited
ARID domain0.09814Inherited
Nicotinic receptor ligand binding domain-like0.1146Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.1146Inherited
cAMP-binding domain0.1402Inherited
Caspase recruitment domain, CARD0.1446Inherited
DNA gyrase/MutL, second domain0.1446Inherited
DNA gyrase/MutL, N-terminal domain0.1446Inherited
TB module/8-cys domain0.1446Inherited
CalX-beta domain0.1446Inherited
Transglutaminase core0.1751Inherited
C1 set domains (antibody constant domain-like)0.186Inherited
GAF domain0.2119Inherited
RecA protein-like (ATPase-domain)0.2396Inherited
FHA domain0.2396Inherited
Arylsulfatase0.2396Inherited
Phosphate binding protein-like0.3087Inherited
Noncollagenous (NC1) domain of collagen IV0.3186Inherited
Intermediate filament protein, coiled coil region0.334Inherited
MHC antigen-recognition domain0.368Inherited
Bromodomain0.3881Inherited
BCR-homology GTPase activation domain (BH-domain)0.4171Inherited
Pyrin domain, PYD0.425Inherited
28-residue LRR0.4517Inherited
EGF-type module0.4935Inherited
PDZ domain0.5236Inherited
DEATH domain, DD0.7175Inherited
LDL receptor-like module0.7196Inherited
I set domains0.7241Inherited
Integrin A (or I) domain0.7504Inherited
TSP-1 type 1 repeat0.83Inherited
Complement control module/SCR domain0.9758Inherited
Rhodopsin-like1Inherited


Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term
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Supra-domain (including individual superfamily)

(show details)
Supra-domain (Single) FDR (all) Annotation (direct or inherited)
Nucleoside diphosphate kinase, NDK0Direct
gamma-Crystallin-like0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
Connexin430Direct
ADC-like0Direct
Smc hinge domain0Direct
Tricorn protease domain 20Direct
Ypt/Rab-GAP domain of gyp1p0Direct
Hect, E3 ligase catalytic domain0Direct
Ribonuclease PH domain 2-like0Direct
Rhodanese/Cell cycle control phosphatase0Direct
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0Direct
Helical domain of Sec23/240Direct
Pseudouridine synthase0Direct
Restriction endonuclease-like0Direct
Actin depolymerizing proteins0Direct
RUN domain-like0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
FKBP-like0Direct
Cyclophilin-like0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
beta and beta-prime subunits of DNA dependent RNA-polymerase0Direct
BPTI-like0Direct
4Fe-4S ferredoxins0Direct
Zn-finger domain of Sec23/240Direct
Notch domain0Direct
Putative DNA-binding domain0Direct
TPR-like0.0002504Direct
Homeodomain-like0.01991Inherited
WD40 repeat-like0.02227Inherited
Ribosomal protein S5 domain 2-like0.03187Inherited
Concanavalin A-like lectins/glucanases0.05893Inherited
ARID-like0.09953Inherited
RING/U-box0.1049Inherited
Tudor/PWWP/MBT0.1155Inherited
Nicotinic receptor ligand binding domain-like0.1185Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.1185Inherited
GroEL equatorial domain-like0.1457Inherited
CalX-like0.1457Inherited
GroEL apical domain-like0.1457Inherited
TB module/8-cys domain0.1457Inherited
Multidrug efflux transporter AcrB transmembrane domain0.1457Inherited
Nucleotide-diphospho-sugar transferases0.1732Inherited
cAMP-binding domain-like0.1893Inherited
GAF domain-like0.213Inherited
RuvA domain 2-like0.213Inherited
PDZ domain-like0.215Inherited
Intermediate filament protein, coiled coil region0.3435Inherited
MHC antigen-recognition domain0.3715Inherited
Bromodomain0.393Inherited
Growth factor receptor domain0.3932Inherited
(Trans)glycosidases0.4353Inherited
vWA-like0.4369Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.4541Inherited
Periplasmic binding protein-like II0.4541Inherited
C-type lectin-like0.4642Inherited
Glycosyl hydrolase domain0.5459Inherited
RNI-like0.5697Inherited
FnI-like domain0.6436Inherited
LDL receptor-like module0.7215Inherited
Immunoglobulin0.7327Inherited
EGF/Laminin0.7708Inherited
TNF receptor-like0.7886Inherited
SMAD/FHA domain0.8276Inherited
DEATH domain0.8676Inherited
Complement control module/SCR domain0.9643Inherited
Family A G protein-coupled receptor-like0.9936Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
54211,55666
  • 54211 - Ribosomal protein S5 domain 2-like
  • 55666 - Ribonuclease PH domain 2-like
  • 0Direct
    52980,47781
  • 52980 - Restriction endonuclease-like
  • 47781 - RuvA domain 2-like
  • 0Direct
    52058,48726
  • 52058 - L domain-like
  • 48726 - Immunoglobulin
  • 0Direct
    64268,50044
  • 64268 - PX domain
  • 50044 - SH3-domain
  • 0Direct
    82919,53300
  • 82919 - Zn-finger domain of Sec23/24
  • 53300 - vWA-like
  • 0Direct
    53300,81995
  • 53300 - vWA-like
  • 81995 - beta-sandwich domain of Sec23/24
  • 0Direct
    81811,82754
  • 81811 - Helical domain of Sec23/24
  • 82754 - C-terminal, gelsolin-like domain of Sec23/24
  • 0Direct
    49562,48350
  • 49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
  • 48350 - GTPase activation domain, GAP
  • 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
    50447,50465
  • 50447 - Translation proteins
  • 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain
  • 0Direct
    57184,49899
  • 57184 - Growth factor receptor domain
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0Direct
    53098,56672
  • 53098 - Ribonuclease H-like
  • 56672 - DNA/RNA polymerases
  • 0Direct
    47923,47923
  • 47923 - Ypt/Rab-GAP domain of gyp1p
  • 47923 - Ypt/Rab-GAP domain of gyp1p
  • 0Direct
    57196,90193
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    49899,49899
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0.03406Inherited
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.08046Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.1185Inherited
    57581,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0.1457Inherited
    55874,54211
  • 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0.1457Inherited
    57196,63825
  • 57196 - EGF/Laminin
  • 63825 - YWTD domain
  • 0.1457Inherited
    57196,57581
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0.1457Inherited
    57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.1874Inherited
    55781,55781
  • 55781 - GAF domain-like
  • 55781 - GAF domain-like
  • 0.213Inherited
    55781,109604
  • 55781 - GAF domain-like
  • 109604 - HD-domain/PDEase-like
  • 0.213Inherited
    51206,51206
  • 51206 - cAMP-binding domain-like
  • 51206 - cAMP-binding domain-like
  • 0.213Inherited
    82895,82895
  • 82895 - TSP-1 type 1 repeat
  • 82895 - TSP-1 type 1 repeat
  • 0.2395Inherited
    50156,50156
  • 50156 - PDZ domain-like
  • 50156 - PDZ domain-like
  • 0.3124Inherited
    64593,64593
  • 64593 - Intermediate filament protein, coiled coil region
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.3715Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.3715Inherited
    56436,56436
  • 56436 - C-type lectin-like
  • 56436 - C-type lectin-like
  • 0.3975Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.4261Inherited
    47986,52540
  • 47986 - DEATH domain
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.4261Inherited
    57184,57196
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0.4996Inherited
    51445,51011
  • 51445 - (Trans)glycosidases
  • 51011 - Glycosyl hydrolase domain
  • 0.5459Inherited
    57586,57586
  • 57586 - TNF receptor-like
  • 57586 - TNF receptor-like
  • 0.6738Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.7131Inherited
    57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.943Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    57424,57184,63825
  • 57424 - LDL receptor-like module
  • 57184 - Growth factor receptor domain
  • 63825 - YWTD domain
  • 0Direct
    57196,57196,57581
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    57196,57581,57196
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    57424,57424,57184
  • 57424 - LDL receptor-like module
  • 57424 - LDL receptor-like module
  • 57184 - Growth factor receptor domain
  • 0Direct
    49899,57196,49899
  • 49899 - Concanavalin A-like lectins/glucanases
  • 57196 - EGF/Laminin
  • 49899 - Concanavalin A-like lectins/glucanases
  • 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
    52540,50447,50465
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain
  • 0Direct
    57196,57196,90193
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 0Direct
    57184,57184,57196
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0Direct
    52058,48726,48726
  • 52058 - L domain-like
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 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
    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
    141072,141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    48452,48452,48452
  • 48452 - TPR-like
  • 48452 - TPR-like
  • 48452 - TPR-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
  • 0.04531Inherited
    57196,57184,57196
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0.06745Inherited
    57196,57184,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.06745Inherited
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.06786Inherited
    82895,82895,82895
  • 82895 - TSP-1 type 1 repeat
  • 82895 - TSP-1 type 1 repeat
  • 82895 - TSP-1 type 1 repeat
  • 0.1434Inherited
    57581,57196,57581
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0.1457Inherited
    57581,57196,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.1457Inherited
    57184,57196,57196
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.177Inherited
    55781,55781,109604
  • 55781 - GAF domain-like
  • 55781 - GAF domain-like
  • 109604 - HD-domain/PDEase-like
  • 0.213Inherited
    57196,57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.4042Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.4987Inherited
    57535,57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.8492Inherited


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