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Phenotypic Abnormality (PA): Abnormal eye physiology

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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)
+ + 2:   Phenotypic abnormality [HP:0000118] <25>
+ 1:   Abnormality of the eye [HP:0000478] <2>(58|72) (64|38|25)
0:   Abnormal eye physiology [HP:0012373] <17>(32|45) (34|24|19)
- 1:   Abnormality of vision [HP:0000504] <15>(8|15) (9|9|7)
- 1:   Abnormality of eye movement [HP:0000496] <14>(7|15) (9|4|1)
- 1:   Inflammatory abnormality of the eye [HP:0100533] <6>(6|7) (6|3|0)
- 1:   Hemorrhage of the eye [HP:0011885] <5>(0|0) (0|0|0)
- 1:   Ptosis [HP:0000508] <5>(0|0) (0|0|0)
- 1:   Abnormal pupillary function [HP:0007686] <4>(0|0) (0|0|0)
- 1:   Abnormality of refraction [HP:0000539] <4>(1|2) (1|2|7)
- 1:   Glaucoma [HP:0000501] <4>(1|1) (1|0|1)
- 1:   Abnormal visual electrophysiology [HP:0030453] <3>(3|2) (3|2|2)
- 1:   Lacrimation abnormality [HP:0000632] <3>(1|1) (1|0|0)
- 1:   Abnormal extraocular muscle physiology [HP:0025590] <2>(0|0) (0|0|0)
- 1:   Abnormal intraocular pressure [HP:0012632] <2>(0|0) (0|0|0)
- 1:   Abnormal visual accommodation [HP:0030800] <1>(0|0) (0|0|0)
- 1:   Ocular pain [HP:0200026] <1>(0|0) (0|0|0)
- 1:   Asthenopia [HP:0031590](0|0) (0|0|0)
- 1:   Congenital stationary cone dysfunction [HP:0030637](0|0) (0|0|0)
- 1:   Staring gaze [HP:0025401](0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
Zn-finger domain of Sec23/240Direct
Smc hinge domain0Direct
Restriction endonuclease-like0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
Tricorn protease domain 20Direct
Rhodanese/Cell cycle control phosphatase0Direct
beta and beta-prime subunits of DNA dependent RNA-polymerase0Direct
Notch domain0Direct
Ribonuclease PH domain 2-like0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
ADC-like0Direct
Nicotinic receptor ligand binding domain-like0.01445Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.01445Inherited
ARID-like0.05299Inherited
GroEL equatorial domain-like0.08791Inherited
GAF domain-like0.1451Inherited
Ribosomal protein S5 domain 2-like0.1458Inherited
cAMP-binding domain-like0.2527Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.2658Inherited
vWA-like0.2796Inherited
RNI-like0.2972Inherited
MHC antigen-recognition domain0.3836Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.3836Inherited
PDZ domain-like0.5206Inherited
FnI-like domain0.5616Inherited
TNF receptor-like0.6674Inherited
Immunoglobulin0.6828Inherited
DEATH domain0.7004Inherited
Hect, E3 ligase catalytic domain0.8016Inherited
gamma-Crystallin-like0.8016Inherited
Family A G protein-coupled receptor-like0.908Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
Notch domain0Direct
XPF/Rad1/Mus81 nuclease0Direct
Protein serine/threonine phosphatase0Direct
Glycosyl transferases group 10Direct
Ypt/Rab-GAP domain of gyp1p0Direct
Ferredoxin domains from multidomain proteins0Direct
Zn-finger domain of Sec23/240Direct
Smc hinge domain0Direct
Ribonuclease PH domain 1-like0Direct
IF2B-like0Direct
RhoGDI-like0Direct
p120GAP domain-like0Direct
Ribonuclease PH domain 2-like0Direct
Proteasome subunits0Direct
Clathrin adaptor core protein0Direct
Multidrug efflux transporter AcrB transmembrane domain0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
Extended AAA-ATPase domain0.005678Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.009194Inherited
Nicotinic receptor ligand binding domain-like0.009194Inherited
G proteins0.01083Inherited
ARID domain0.03885Inherited
PHD domain0.0611Inherited
DNA gyrase/MutL, second domain0.06871Inherited
DNA gyrase/MutL, N-terminal domain0.06871Inherited
GAF domain0.1175Inherited
Laminin G-like module0.1334Inherited
Bromodomain0.1438Inherited
Noncollagenous (NC1) domain of collagen IV0.171Inherited
28-residue LRR0.2264Inherited
cAMP-binding domain0.2465Inherited
Caspase recruitment domain, CARD0.26Inherited
Pyrin domain, PYD0.26Inherited
PDZ domain0.2729Inherited
VWC domain0.3359Inherited
MHC antigen-recognition domain0.3359Inherited
Integrin A (or I) domain0.4258Inherited
C1 set domains (antibody constant domain-like)0.5047Inherited
DEATH domain, DD0.6138Inherited
FHA domain0.6825Inherited
Crystallins/Ca-binding development proteins0.767Inherited
Hect, E3 ligase catalytic domain0.767Inherited
Fibroblast growth factors (FGF)0.8162Inherited
Rhodopsin-like0.8308Inherited


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)
Notch domain0Direct
Zn-finger domain of Sec23/240Direct
ADC-like0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
beta and beta-prime subunits of DNA dependent RNA-polymerase0Direct
Ribonuclease PH domain 2-like0Direct
Smc hinge domain0Direct
tRNA-intron endonuclease catalytic domain-like0Direct
Tricorn protease domain 20Direct
Restriction endonuclease-like0Direct
Rhodanese/Cell cycle control phosphatase0Direct
Ypt/Rab-GAP domain of gyp1p0Direct
Neurotransmitter-gated ion-channel transmembrane pore0.009678Inherited
Nicotinic receptor ligand binding domain-like0.009678Inherited
ARID-like0.0397Inherited
GroEL equatorial domain-like0.06891Inherited
GAF domain-like0.1187Inherited
Ribosomal protein S5 domain 2-like0.1193Inherited
Bromodomain0.1467Inherited
cAMP-binding domain-like0.2168Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.2294Inherited
vWA-like0.2424Inherited
RNI-like0.2596Inherited
WD40 repeat-like0.3346Inherited
MHC antigen-recognition domain0.3424Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.3424Inherited
PDZ domain-like0.4775Inherited
FnI-like domain0.5188Inherited
TNF receptor-like0.6279Inherited
Immunoglobulin0.644Inherited
DEATH domain0.6621Inherited
Hect, E3 ligase catalytic domain0.7679Inherited
gamma-Crystallin-like0.7679Inherited
Family A G protein-coupled receptor-like0.8798Inherited

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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
    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
    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
    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
    52058,48726
  • 52058 - L domain-like
  • 48726 - Immunoglobulin
  • 0Direct
    141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.009678Inherited
    55874,54211
  • 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0.06891Inherited
    50156,50156
  • 50156 - PDZ domain-like
  • 50156 - PDZ domain-like
  • 0.07048Inherited
    55781,55781
  • 55781 - GAF domain-like
  • 55781 - GAF domain-like
  • 0.1187Inherited
    55781,109604
  • 55781 - GAF domain-like
  • 109604 - HD-domain/PDEase-like
  • 0.1187Inherited
    49899,49899
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0.1869Inherited
    56436,56436
  • 56436 - C-type lectin-like
  • 56436 - C-type lectin-like
  • 0.2064Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.2616Inherited
    47986,52540
  • 47986 - DEATH domain
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.2616Inherited
    48371,48371
  • 48371 - ARM repeat
  • 48371 - ARM repeat
  • 0.2938Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.3424Inherited
    82895,82895
  • 82895 - TSP-1 type 1 repeat
  • 82895 - TSP-1 type 1 repeat
  • 0.6244Inherited
    57586,57586
  • 57586 - TNF receptor-like
  • 57586 - TNF receptor-like
  • 0.6431Inherited

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    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
    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
  • 0.02258Inherited
    57196,57184,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.02258Inherited
    57184,57196,57196
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.07048Inherited
    55781,55781,109604
  • 55781 - GAF domain-like
  • 55781 - GAF domain-like
  • 109604 - HD-domain/PDEase-like
  • 0.1187Inherited
    82895,82895,82895
  • 82895 - TSP-1 type 1 repeat
  • 82895 - TSP-1 type 1 repeat
  • 82895 - TSP-1 type 1 repeat
  • 0.6244Inherited
    48726,48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.726Inherited


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