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Phenotypic Abnormality (PA): Abnormal eye morphology

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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>(64|78) (69|38|28)
0:   Abnormal eye morphology [HP:0012372] <12>(39|48) (41|29|22)
- 1:   Abnormal sclera morphology [HP:0000591] <12>(0|1) (1|0|0)
- 1:   Abnormal anterior eye segment morphology [HP:0004328] <8>(17|22) (19|15|14)
- 1:   Abnormality of globe location [HP:0100886] <6>(0|5) (1|1|0)
- 1:   Coloboma [HP:0000589] <6>(2|2) (2|0|0)
- 1:   Abnormal uvea morphology [HP:0000553] <5>(7|8) (8|5|7)
- 1:   Aplasia/Hypoplasia affecting the eye [HP:0008056] <5>(4|4) (4|1|0)
- 1:   Neoplasm of the eye [HP:0100012] <5>(0|0) (0|0|0)
- 1:   Abnormality of the vasculature of the eye [HP:0008047] <4>(6|5) (6|4|1)
- 1:   Abnormal posterior eye segment morphology [HP:0004329] <3>(16|11) (17|6|8)
- 1:   Abnormality of globe size [HP:0100887] <3>(3|2) (3|1|0)
- 1:   Phthisis bulbi [HP:0000667](0|0) (0|0|0)
- 1:   Spontaneous rupture of the globe [HP:0010727](0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
Notch domain0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
Tricorn protease domain 20Direct
Hect, E3 ligase catalytic domain0Direct
Rhodanese/Cell cycle control phosphatase0Direct
Connexin430Direct
Cytochrome b5-like heme/steroid binding domain0Direct
Helical domain of Sec23/240Direct
gamma-Crystallin-like0Direct
Smc hinge domain0Direct
4Fe-4S ferredoxins0Direct
Zn-finger domain of Sec23/240Direct
beta and beta-prime subunits of DNA dependent RNA-polymerase0Direct
Nucleotide-diphospho-sugar transferases0.02802Inherited
TB module/8-cys domain0.08028Inherited
CalX-like0.08028Inherited
GroEL apical domain-like0.08028Inherited
GroEL equatorial domain-like0.08028Inherited
Growth factor receptor domain0.1277Inherited
GAF domain-like0.1351Inherited
RuvA domain 2-like0.1351Inherited
Homeodomain-like0.1947Inherited
(Trans)glycosidases0.2341Inherited
C-type lectin-like0.2881Inherited
Glycosyl hydrolase domain0.3299Inherited
FnI-like domain0.3523Inherited
RNI-like0.5188Inherited
TNF receptor-like0.535Inherited
Restriction endonuclease-like0.5406Inherited
Multidrug efflux transporter AcrB transmembrane domain0.5406Inherited
RING/U-box0.5573Inherited
Intermediate filament protein, coiled coil region0.6153Inherited
Voltage-gated potassium channels0.7029Inherited
DEATH domain0.7031Inherited
SCOP hierarchy in SUPERFAMILY0.7768Inherited
Complement control module/SCR domain0.7882Inherited
EGF/Laminin0.8072Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.8977Inherited
Concanavalin A-like lectins/glucanases0.9531Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
Zn-finger domain of Sec23/240Direct
Proteasome subunits0Direct
Ferredoxin domains from multidomain proteins0Direct
Protein serine/threonine phosphatase0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
Helical domain of Sec23/240Direct
Glycosyl transferases group 10Direct
Cytochrome b50Direct
Crystallins/Ca-binding development proteins0Direct
beta-glycanases0Direct
Notch domain0Direct
Smc hinge domain0Direct
XPF/Rad1/Mus81 nuclease0Direct
Histone deacetylase, HDAC0Direct
Hect, E3 ligase catalytic domain0Direct
VWC domain0Direct
C5 cytosine-specific DNA methylase, DCM0Direct
Inositol polyphosphate 5-phosphatase (IPP5)0Direct
Connexin430Direct
beta-sandwich domain of Sec23/240Direct
Trunk domain of Sec23/240Direct
IF2B-like0Direct
Histone lysine methyltransferases0.02171Inherited
CalX-beta domain0.06149Inherited
TB module/8-cys domain0.06149Inherited
Arylsulfatase0.08144Inherited
GAF domain0.1078Inherited
EGF-type module0.134Inherited
Noncollagenous (NC1) domain of collagen IV0.1545Inherited
C1 set domains (antibody constant domain-like)0.1754Inherited
Homeodomain0.2205Inherited
Pyrin domain, PYD0.2421Inherited
PWWP domain0.2946Inherited
RecA protein-like (ATPase-domain)0.2946Inherited
BCR-homology GTPase activation domain (BH-domain)0.2999Inherited
PDZ domain0.306Inherited
28-residue LRR0.3922Inherited
TSP-1 type 1 repeat0.4518Inherited
Caspase recruitment domain, CARD0.4961Inherited
Multidrug efflux transporter AcrB transmembrane domain0.4961Inherited
Intermediate filament protein, coiled coil region0.5669Inherited
Transglutaminase core0.7048Inherited
LDL receptor-like module0.7227Inherited
Complement control module/SCR domain0.7497Inherited
DEATH domain, DD0.753Inherited
I set domains0.7959Inherited
G proteins0.864Inherited
Laminin G-like module1Inherited


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)
Smc hinge domain0Direct
Connexin430Direct
Notch domain0Direct
Tricorn protease domain 20Direct
Cytochrome b5-like heme/steroid binding domain0Direct
Helical domain of Sec23/240Direct
Hect, E3 ligase catalytic domain0Direct
gamma-Crystallin-like0Direct
Zn-finger domain of Sec23/240Direct
4Fe-4S ferredoxins0Direct
C-terminal, gelsolin-like domain of Sec23/240Direct
beta and beta-prime subunits of DNA dependent RNA-polymerase0Direct
Rhodanese/Cell cycle control phosphatase0Direct
Nucleotide-diphospho-sugar transferases0.01956Inherited
CalX-like0.06186Inherited
GroEL apical domain-like0.06186Inherited
TB module/8-cys domain0.06186Inherited
GroEL equatorial domain-like0.06186Inherited
Growth factor receptor domain0.1026Inherited
RuvA domain 2-like0.1092Inherited
GAF domain-like0.1092Inherited
Tudor/PWWP/MBT0.1263Inherited
Homeodomain-like0.1624Inherited
(Trans)glycosidases0.1985Inherited
C-type lectin-like0.2489Inherited
Glycosyl hydrolase domain0.2888Inherited
FnI-like domain0.3104Inherited
TSP-1 type 1 repeat0.4599Inherited
RNI-like0.4744Inherited
TNF receptor-like0.4909Inherited
Multidrug efflux transporter AcrB transmembrane domain0.4965Inherited
Restriction endonuclease-like0.4965Inherited
RING/U-box0.5137Inherited
Intermediate filament protein, coiled coil region0.5733Inherited
Voltage-gated potassium channels0.6639Inherited
DEATH domain0.6641Inherited
LDL receptor-like module0.7223Inherited
Complement control module/SCR domain0.7525Inherited
EGF/Laminin0.7726Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.8683Inherited
Concanavalin A-like lectins/glucanases0.928Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
53098,56672
  • 53098 - Ribonuclease H-like
  • 56672 - DNA/RNA polymerases
  • 0Direct
    81811,82754
  • 81811 - Helical domain of Sec23/24
  • 82754 - C-terminal, gelsolin-like domain of Sec23/24
  • 0Direct
    52980,47781
  • 52980 - Restriction endonuclease-like
  • 47781 - RuvA domain 2-like
  • 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
    141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    53300,81995
  • 53300 - vWA-like
  • 81995 - beta-sandwich domain of Sec23/24
  • 0Direct
    52058,48726
  • 52058 - L domain-like
  • 48726 - Immunoglobulin
  • 0Direct
    57184,49899
  • 57184 - Growth factor receptor domain
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0Direct
    57196,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.013Inherited
    57581,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0.06186Inherited
    57196,57581
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0.06186Inherited
    57196,63825
  • 57196 - EGF/Laminin
  • 63825 - YWTD domain
  • 0.06186Inherited
    82895,82895
  • 82895 - TSP-1 type 1 repeat
  • 82895 - TSP-1 type 1 repeat
  • 0.06788Inherited
    57184,57184
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.1005Inherited
    55781,109604
  • 55781 - GAF domain-like
  • 109604 - HD-domain/PDEase-like
  • 0.1092Inherited
    51206,51206
  • 51206 - cAMP-binding domain-like
  • 51206 - cAMP-binding domain-like
  • 0.1092Inherited
    55781,55781
  • 55781 - GAF domain-like
  • 55781 - GAF domain-like
  • 0.1092Inherited
    56436,56436
  • 56436 - C-type lectin-like
  • 56436 - C-type lectin-like
  • 0.1871Inherited
    57184,57196
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0.2209Inherited
    47986,52540
  • 47986 - DEATH domain
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.2442Inherited
    51445,51011
  • 51445 - (Trans)glycosidases
  • 51011 - Glycosyl hydrolase domain
  • 0.2888Inherited
    64593,64593
  • 64593 - Intermediate filament protein, coiled coil region
  • 64593 - Intermediate filament protein, coiled coil region
  • 0.2992Inherited
    50156,50156
  • 50156 - PDZ domain-like
  • 50156 - PDZ domain-like
  • 0.3523Inherited
    57586,57586
  • 57586 - TNF receptor-like
  • 57586 - TNF receptor-like
  • 0.3962Inherited
    48726,48726
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0.5779Inherited
    57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.7118Inherited
    49899,49899
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 0.9829Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    57196,57581,57196
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 0Direct
    53300,81995,81811
  • 53300 - vWA-like
  • 81995 - beta-sandwich domain of Sec23/24
  • 81811 - Helical domain of Sec23/24
  • 0Direct
    57196,57196,57581
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0Direct
    57184,57184,57196
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0Direct
    141072,141072,141072
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 141072 - CalX-like
  • 0Direct
    52058,48726,48726
  • 52058 - L domain-like
  • 48726 - Immunoglobulin
  • 48726 - Immunoglobulin
  • 0Direct
    57196,57196,90193
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 90193 - Notch domain
  • 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
    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
    57196,57196,57184
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.01316Inherited
    57196,57184,57184
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57184 - Growth factor receptor domain
  • 0.01947Inherited
    57196,57184,57196
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0.01947Inherited
    82895,82895,82895
  • 82895 - TSP-1 type 1 repeat
  • 82895 - TSP-1 type 1 repeat
  • 82895 - TSP-1 type 1 repeat
  • 0.03407Inherited
    57184,57196,57196
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.06166Inherited
    57581,57196,57581
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57581 - TB module/8-cys domain
  • 0.06186Inherited
    57581,57196,57196
  • 57581 - TB module/8-cys domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.06186Inherited
    55781,55781,109604
  • 55781 - GAF domain-like
  • 55781 - GAF domain-like
  • 109604 - HD-domain/PDEase-like
  • 0.1092Inherited
    52540,52540,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.2966Inherited
    57196,57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.5537Inherited
    57535,57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.6144Inherited


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