Homo sapiens

10 known processes

RPGRIP1

retinitis pigmentosa GTPase regulator interacting protein 1

(Aliases: CORD13,RGRIP,LCA6,RPGRIP1d,DKFZp686P0897,RGI1,RPGRIP)

RPGRIP1 biological process predictions


Filter by process size:
Biological processGO term IDProcess sizeProbabilityFunc Analog Org
cellular amino acid metabolic processGO:00065201160.129
cation transportGO:00068123310.116
cytokine productionGO:00018162470.111
regulation of cytokine productionGO:00018172320.098
regulation of cell differentiationGO:00455953930.082
immune responseGO:00069553070.080
amine metabolic processGO:0009308440.078
cellular amine metabolic processGO:0044106410.070
regulation of secretionGO:00510461940.068
regulation of response to external stimulusGO:00321012220.064
regulation of secretion by cellGO:19035301770.064
metal ion transportGO:00300012720.062
regulation of cellular amino acid metabolic processGO:000652160.062
cellular ketone metabolic processGO:0042180800.060
secretionGO:00469032540.058
negative regulation of protein metabolic processGO:00512483910.056
post embryonic developmentGO:000979120.056
defense responseGO:00069523150.053
cell adhesionGO:00071553250.052
anatomical structure formation involved in morphogenesisGO:00486462840.051
regulation of establishment of protein localizationGO:00702012420.051
regulation of cellular ketone metabolic processGO:0010565500.051
response to other organismGO:00517072610.050
transmembrane transportGO:00550853990.050
glycosyl compound catabolic processGO:19016584130.049
female gamete generationGO:000729220.049
purine ribonucleoside metabolic processGO:00461284370.049
regulation of protein localizationGO:00328802960.048
ion homeostasisGO:00508012300.047
positive regulation of transportGO:00510503360.046
response to external biotic stimulusGO:00432072610.045
cell activationGO:00017752130.045
negative regulation of cell deathGO:00605483450.045
regulation of cellular amine metabolic processGO:0033238110.045
regulation of cell motilityGO:20001452990.045
system processGO:00030083490.045
innate immune responseGO:00450871780.045
regulation of cellular component movementGO:00512703340.045
positive regulation of cellular amine metabolic processGO:003324070.044
response to biotic stimulusGO:00096072760.043
response to woundingGO:00096111680.043
purine nucleoside triphosphate catabolic processGO:00091463920.043
purine containing compound catabolic processGO:00725234110.043
regulation of mapk cascadeGO:00434082620.042
purine ribonucleotide catabolic processGO:00091544040.042
purine nucleoside catabolic processGO:00061523980.042
secretion by cellGO:00329402260.042
chemical homeostasisGO:00488783060.042
positive regulation of cellular component organizationGO:00511303760.041
mapk cascadeGO:00001652880.040
nucleoside catabolic processGO:00091644080.040
nucleotide catabolic processGO:00091664080.040
organophosphate catabolic processGO:00464344300.040
negative regulation of apoptotic processGO:00430663160.039
negative regulation of cellular protein metabolic processGO:00322693530.039
negative regulation of multicellular organismal processGO:00512413170.039
nucleoside triphosphate metabolic processGO:00091414220.039
cell developmentGO:00484683280.039
regulation of locomotionGO:00400123290.039
positive regulation of immune system processGO:00026842830.038
regulation of immune responseGO:00507762010.038
nucleoside phosphate catabolic processGO:19012924120.038
response to oxygen containing compoundGO:19017003690.038
leukocyte activationGO:00453211640.038
oogenesisGO:004847720.037
ribonucleoside catabolic processGO:00424544060.037
positive regulation of hydrolase activityGO:00513453310.037
positive regulation of mapk cascadeGO:00434101900.037
chromatin organizationGO:00063253510.036
regulation of protein transportGO:00512232130.036
locomotory behaviorGO:000762610.036
negative regulation of cell proliferationGO:00082852280.036
ribonucleotide catabolic processGO:00092614050.036
purine ribonucleoside catabolic processGO:00461303980.036
immune response regulating signaling pathwayGO:0002764970.035
regulation of leukocyte activationGO:00026941150.035
positive regulation of phosphorylationGO:00423273940.035
ribonucleoside triphosphate metabolic processGO:00091994120.035
purine nucleoside triphosphate metabolic processGO:00091444120.034
cytoplasmic transportGO:00164823790.034
signal transduction by phosphorylationGO:00230142970.034
purine ribonucleoside triphosphate metabolic processGO:00092054110.034
positive regulation of cell proliferationGO:00082843010.034
cell projection organizationGO:00300302520.034
biological adhesionGO:00226103310.033
purine ribonucleoside triphosphate catabolic processGO:00092073910.032
anion transportGO:00068201610.032
protein processingGO:00164852260.032
nucleoside triphosphate catabolic processGO:00091433940.032
cellular component morphogenesisGO:00329893140.032
purine nucleotide catabolic processGO:00061954050.031
negative regulation of catalytic activityGO:00430863350.031
nervous system developmentGO:00073992930.031
determination of adult lifespanGO:000834020.030
small molecule biosynthetic processGO:00442831570.030
ribonucleoside triphosphate catabolic processGO:00092033910.030
cation homeostasisGO:00550801890.030
positive regulation of programmed cell deathGO:00430682490.030
chromatin modificationGO:00165682980.029
regulation of cell activationGO:00508651250.029
protein maturationGO:00516042330.029
cellular lipid metabolic processGO:00442553030.029
positive regulation of cellular amino acid metabolic processGO:004576430.028
oxidation reduction processGO:00551143960.028
positive regulation of cell differentiationGO:00455972110.028
inorganic ion transmembrane transportGO:00986602310.028
immune effector processGO:00022521590.028
vesicle mediated transportGO:00161923710.028
cation transmembrane transportGO:00986552380.028
negative regulation of locomotionGO:00400131180.028
cellular chemical homeostasisGO:00550821800.027
membrane organizationGO:00610242920.027
positive regulation of secretion by cellGO:19035321080.027
nitrogen compound transportGO:00717051910.027
regulation of protein kinase activityGO:00458592890.027
organonitrogen compound biosynthetic processGO:19015662000.027
single organism membrane organizationGO:00448022680.026
response to organic cyclic compoundGO:00140702040.026
cell morphogenesisGO:00009022960.026
divalent metal ion transportGO:00708381520.026
positive regulation of catabolic processGO:00098963100.026
neuromuscular junction developmentGO:000752830.026
negative regulation of programmed cell deathGO:00430693210.025
positive regulation of developmental processGO:00510943140.025
metal ion homeostasisGO:00550651690.025
cellular homeostasisGO:00197251960.025
response to cytokineGO:00340972320.025
regulation of anatomical structure morphogenesisGO:00226032860.025
multicellular organismal agingGO:001025930.025
positive regulation of protein phosphorylationGO:00019343130.025
response to nitrogen compoundGO:19016981840.025
apoptotic signaling pathwayGO:00971902680.025
monocarboxylic acid metabolic processGO:00327871850.024
cellular ion homeostasisGO:00068731680.024
negative regulation of cellular component organizationGO:00511292350.024
small gtpase mediated signal transductionGO:0007264780.024
lipid biosynthetic processGO:00086101770.024
regulation of cell migrationGO:00303342890.024
muscle contractionGO:0006936730.024
histone modificationGO:00165702510.023
negative regulation of developmental processGO:00510932470.023
ras protein signal transductionGO:0007265730.023
regulation of defense responseGO:00313471540.023
inorganic cation transmembrane transportGO:00986621940.023
regulation of transferase activityGO:00513383550.023
negative regulation of phosphorus metabolic processGO:00105632670.023
regulation of protein secretionGO:0050708860.023
lipid metabolic processGO:00066293810.023
response to abiotic stimulusGO:00096283360.023
memoryGO:000761330.022
negative regulation of cell migrationGO:00303361020.022
cellular cation homeostasisGO:00300031630.022
negative regulation of protein modification processGO:00314002000.022
cytokine secretionGO:0050663640.022
negative regulation of phosphate metabolic processGO:00459362670.022
calcium ion homeostasisGO:00550741220.022
detection of stimulusGO:0051606850.022
regulation of multi organism processGO:00439001570.022
positive regulation of cellular catabolic processGO:00313312840.022
regulation of kinase activityGO:00435493140.022
divalent inorganic cation transportGO:00725111580.022
regulation of proteolysisGO:00301622930.021
regulation of nucleotide metabolic processGO:00061402690.021
negative regulation of cell motilityGO:20001461040.021
regulation of response to woundingGO:19030341010.021
positive regulation of immune responseGO:00507781590.021
regenerationGO:003109940.021
response to lipidGO:00339932060.021
negative regulation of cell differentiationGO:00455961710.021
sulfur compound metabolic processGO:00067901010.021
regulation of vesicle mediated transportGO:00606271300.021
mitotic cell cycleGO:00002783260.021
enzyme linked receptor protein signaling pathwayGO:00071673030.021
purine ribonucleoside monophosphate metabolic processGO:00091671860.021
ion transmembrane transportGO:00342203380.020
positive regulation of cytokine productionGO:00018191670.020
regulation of endopeptidase activityGO:00525481700.020
intracellular protein transportGO:00068862700.020
negative regulation of hydrolase activityGO:00513461820.020
immune system developmentGO:00025201950.020
circulatory system developmentGO:00723592620.020
inflammatory responseGO:0006954790.020
negative regulation of cellular amino acid metabolic processGO:004576320.020
hemopoiesisGO:00300971800.020
cellular response to oxygen containing compoundGO:19017012760.020
organelle assemblyGO:00709251760.019
single organism cellular localizationGO:19025803320.019
defense response to other organismGO:00985421290.019
organophosphate biosynthetic processGO:00904071630.019
covalent chromatin modificationGO:00165692540.019
cytokine biosynthetic processGO:0042089370.019
regulation of mononuclear cell proliferationGO:0032944650.019
response to bacteriumGO:00096171440.019
protein localization to organelleGO:00333652800.019
negative regulation of cellular component movementGO:00512711060.019
regulation of peptidase activityGO:00525471800.019
guanosine containing compound metabolic processGO:19010682440.019
regulation of cytoplasmic transportGO:19036491490.019
negative regulation of transportGO:00510511760.019
negative regulation of cellular amine metabolic processGO:003323930.019
lymphocyte activationGO:00466491330.019
regulation of intracellular transportGO:00323861950.019
positive regulation of secretionGO:00510471160.019
regulation of cell cycleGO:00517263930.018
ribonucleoside monophosphate metabolic processGO:00091611870.018
wound healingGO:00420601150.018
calcium ion transportGO:00068161470.018
regulation of purine nucleotide catabolic processGO:00331212050.018
oocyte differentiationGO:000999420.018
protein secretionGO:0009306980.018
divalent inorganic cation homeostasisGO:00725071360.018
growthGO:00400072020.018
regulation of gtpase activityGO:00430871800.018
protein modification by small protein conjugationGO:00324463420.018
positive regulation of cell deathGO:00109422630.018
positive regulation of apoptotic processGO:00430652460.018
response to inorganic substanceGO:00100351270.018
response to virusGO:00096151260.018
regulation of lymphocyte activationGO:00512491030.018
oocyte developmentGO:004859910.018
actin filament based processGO:00300292240.018
nucleoside monophosphate catabolic processGO:00091251590.018
immune response activating signal transductionGO:0002757900.018
leukocyte migrationGO:00509001070.018
regulation of ion transportGO:00432691890.018
cytokine mediated signaling pathwayGO:00192211090.017
maintenance of locationGO:00512351120.017
regulation of growthGO:00400081650.017
regulation of purine nucleotide metabolic processGO:19005422640.017
protein catabolic processGO:00301633250.017
associative learningGO:000830610.017
erk1 and erk2 cascadeGO:00703711040.017
rho protein signal transductionGO:0007266260.017
neurological system processGO:00508771630.017
regulation of i kappab kinase nf kappab signalingGO:00431221620.017
regulation of cellular component biogenesisGO:00440872810.017
cell chemotaxisGO:00603261120.017
cellular response to cytokine stimulusGO:00713451810.017
single organism cell adhesionGO:00986021790.017
cell growthGO:00160491600.017
single organism carbohydrate metabolic processGO:00447231930.017
mitotic cell cycle processGO:19030472860.017
intrinsic apoptotic signaling pathwayGO:00971931270.017
regulation of nucleoside metabolic processGO:00091182090.017
regulation of cellular response to stressGO:00801352440.017
positive regulation of transferase activityGO:00513472270.017
positive regulation of protein transportGO:00512221350.016
peptidyl tyrosine modificationGO:00182121700.016
chemotaxisGO:00069351570.016
cellular response to abiotic stimulusGO:00712141170.016
i kappab kinase nf kappab signalingGO:00072491660.016
regulation of t cell activationGO:0050863770.016
cellular macromolecule catabolic processGO:00442653800.016
cellular response to dna damage stimulusGO:00069743790.016
purine nucleoside monophosphate metabolic processGO:00091261860.016
spermatid differentiationGO:004851540.016
regulation of calcium ion transportGO:0051924790.016
regulation of immune effector processGO:0002697910.016
dephosphorylationGO:00163112090.016
organic anion transportGO:00157111030.016
positive regulation of locomotionGO:00400171860.016
cellular macromolecular complex assemblyGO:00346223240.016
negative regulation of transcription from rna polymerase ii promoterGO:00001222810.016
cardiovascular system developmentGO:00723582620.016
cellular response to endogenous stimulusGO:00714953360.016
ribonucleoside monophosphate catabolic processGO:00091581580.016
regulation of nucleotide catabolic processGO:00308112050.016
t cell activationGO:0042110990.015
atp metabolic processGO:00460341760.015
regulation of metal ion transportGO:00109591200.015
regulation of cell adhesionGO:00301551660.015
positive regulation of cell migrationGO:00303351720.015
reactive oxygen species metabolic processGO:0072593750.015
spermatid developmentGO:000728640.015
purine nucleoside monophosphate catabolic processGO:00091281580.015
negative regulation of intracellular signal transductionGO:19025321830.015
cellular calcium ion homeostasisGO:00068741170.015
positive regulation of organelle organizationGO:00106381950.015
sensory perceptionGO:00076001030.015
alpha amino acid metabolic processGO:1901605720.015
regulation of cysteine type endopeptidase activityGO:20001161270.015
regulation of erk1 and erk2 cascadeGO:0070372990.015
regulation of protein processingGO:00706131500.015
positive regulation of purine nucleotide catabolic processGO:00331231850.015
lymphocyte proliferationGO:0046651700.015
endomembrane system organizationGO:00102561960.015
regulation of cell morphogenesisGO:00226041530.015
cellular modified amino acid metabolic processGO:0006575640.015
organic hydroxy compound metabolic processGO:19016151470.015
guanosine containing compound catabolic processGO:19010692390.015
regulation of protein serine threonine kinase activityGO:00719001790.015
angiogenesisGO:00015251470.015
monovalent inorganic cation transportGO:00156721280.015
alcohol metabolic processGO:00060661140.014
cellular divalent inorganic cation homeostasisGO:00725031280.014
response to metal ionGO:0010038840.014
regulation of cytokine secretionGO:0050707570.014
peptidyl tyrosine phosphorylationGO:00181081700.014
lipid catabolic processGO:0016042840.014
establishment of protein localization to organelleGO:00725941720.014
epithelium developmentGO:00604292270.014
endocytosisGO:00068971590.014
regulation of protein maturationGO:19033171500.014
positive regulation of nucleotide metabolic processGO:00459812300.014
positive regulation of nucleotide catabolic processGO:00308131850.014
cellular protein catabolic processGO:00442572610.014
negative regulation of cell cycleGO:00457861930.014
nucleoside monophosphate metabolic processGO:00091231910.014
negative regulation of cytokine productionGO:0001818820.014
positive regulation of cellular component biogenesisGO:00440891580.014
posttranscriptional regulation of gene expressionGO:00106082130.014
response to fungusGO:000962040.014
microtubule based processGO:00070172100.014
hematopoietic or lymphoid organ developmentGO:00485341860.014
positive regulation of leukocyte activationGO:0002696800.014
atp catabolic processGO:00062001570.014
negative regulation of phosphorylationGO:00423261740.014
response to axon injuryGO:004867810.014
negative regulation of protein processingGO:00109551420.014
carboxylic acid biosynthetic processGO:0046394970.014
cellular response to external stimulusGO:00714961110.014
small molecule catabolic processGO:0044282920.014
negative regulation of immune system processGO:00026831360.014
protein ubiquitinationGO:00165673140.014
taxisGO:00423301570.013
cell projection assemblyGO:00300311260.013
immune response inhibiting cell surface receptor signaling pathwayGO:000276740.013
negative regulation of kinase activityGO:00336731060.013
vasculature developmentGO:00019441810.013
gtp catabolic processGO:00061842370.013
positive regulation of nucleoside metabolic processGO:00459791860.013
serotonin transportGO:000683730.013
regulation of reactive oxygen species metabolic processGO:2000377410.013
regulation of innate immune responseGO:0045088970.013
adult locomotory behaviorGO:000834410.013
positive regulation of protein serine threonine kinase activityGO:00719021190.013
single organismal cell cell adhesionGO:00163371480.013
response to extracellular stimulusGO:0009991850.013
regulation of cysteine type endopeptidase activity involved in apoptotic processGO:00432811160.013
hemostasisGO:0007599760.013
generation of neuronsGO:00486991520.013
positive regulation of proteolysisGO:00458621420.013
central nervous system developmentGO:00074171230.013
regulation of synaptic plasticityGO:004816730.013
regulation of chromosome organizationGO:00330441030.013
protein homooligomerizationGO:00512601000.013
positive regulation of cell motilityGO:20001471770.013
head developmentGO:00603221080.013
cellular response to organonitrogen compoundGO:00714171240.013
gtp metabolic processGO:00460392390.013
defense response to bacteriumGO:0042742630.013
muscle system processGO:0003012810.013
carbohydrate metabolic processGO:00059752070.013
segmentationGO:003528240.013
positive regulation of purine nucleotide metabolic processGO:19005442270.013
actin cytoskeleton organizationGO:00300362070.013
mononuclear cell proliferationGO:0032943710.013
negative regulation of transferase activityGO:00513481240.013
carbohydrate derivative biosynthetic processGO:19011372070.013
negative regulation of response to external stimulusGO:0032102830.012
organic acid biosynthetic processGO:0016053970.012
negative regulation of synaptic transmissionGO:005080520.012
regulation of transmembrane receptor protein serine threonine kinase signaling pathwayGO:0090092900.012
regulation of dna metabolic processGO:00510521530.012
regulation of tumor necrosis factor superfamily cytokine productionGO:1903555440.012
positive regulation of gtpase activityGO:00435471660.012
anion transmembrane transportGO:0098656760.012
motor neuron axon guidanceGO:000804520.012
positive regulation of response to external stimulusGO:0032103880.012
blood vessel morphogenesisGO:00485141620.012
positive regulation of reactive oxygen species metabolic processGO:2000379240.012
microtubule cytoskeleton organizationGO:00002261760.012
positive regulation of cellular component movementGO:00512721810.012
fatty acid metabolic processGO:00066311150.012
regulation of sequence specific dna binding transcription factor activityGO:00510902110.012
neuron developmentGO:00486661130.012
positive regulation of gtp catabolic processGO:00331261660.012
nucleotide biosynthetic processGO:00091651090.012
cell substrate adhesionGO:00315891320.012
cellular response to lipidGO:00713961270.012
protein localization to membraneGO:00726571600.012
neurogenesisGO:00220081690.012
negative regulation of growthGO:0045926970.012
activation of immune responseGO:00022531140.012
regulation of cell growthGO:00015581350.012
response to radiationGO:00093141510.012
coagulationGO:0050817780.012
methylationGO:00322591060.012
brain developmentGO:0007420970.012
matingGO:000761810.012
purine ribonucleoside monophosphate catabolic processGO:00091691580.012
negative regulation of proteolysisGO:00458611320.012
positive regulation of cytosolic calcium ion concentrationGO:0007204820.011
compound eye developmentGO:004874910.011
sensory perception of painGO:001923340.011
symbiosis encompassing mutualism through parasitismGO:00444031560.011
reactive oxygen species biosynthetic processGO:190340940.011
positive regulation of defense responseGO:0031349870.011
cell part morphogenesisGO:00329901370.011
rna processingGO:00063962550.011
plasma membrane organizationGO:00070091150.011
positive regulation of protein kinase activityGO:00458601900.011
meiosis iGO:000712740.011
reactive nitrogen species metabolic processGO:200105730.011
organic acid catabolic processGO:0016054710.011
regulation of transmission of nerve impulseGO:005196920.011
regulation of cell projection organizationGO:00313441070.011
actin filament based movementGO:0030048170.011
sequestering of metal ionGO:0051238240.011
negative regulation of cell growthGO:0030308830.011
regulation of cell developmentGO:00602841610.011
regulation of meiotic cell cycleGO:005144540.011
proteolysis involved in cellular protein catabolic processGO:00516032440.011
cell projection morphogenesisGO:00488581290.011
negative regulation of protein phosphorylationGO:00019331400.011
lipid localizationGO:00108761060.011
response to growth factorGO:00708482050.011
regulation of hormone levelsGO:00108171250.011
positive regulation of cell activationGO:0050867810.011
regulation of leukocyte mediated immunityGO:0002703380.011
regulation of angiogenesisGO:0045765920.011
positive regulation of erk1 and erk2 cascadeGO:0070374750.011
regulation of cytoskeleton organizationGO:00514931770.011
actin filament organizationGO:00070151280.011
purine nucleotide biosynthetic processGO:0006164840.011
positive regulation of intracellular transportGO:00323881040.011
regulation of interleukin 8 productionGO:0032677490.011
positive regulation of innate immune responseGO:0045089790.011
positive regulation of i kappab kinase nf kappab signalingGO:00431231320.011
interleukin 8 productionGO:0032637510.011
cellular amide metabolic processGO:0043603690.011
chemokine productionGO:0032602320.011
regulation of vasculature developmentGO:1901342970.011
stem cell divisionGO:001714520.011
regulation of map kinase activityGO:00434051080.011
nuclear transportGO:00511691790.011
positive regulation of regulatory t cell differentiationGO:004559130.011
regulation of cytokine biosynthetic processGO:0042035350.011
nuclear divisionGO:00002801280.011
cellular protein complex assemblyGO:00436231880.011
response to organonitrogen compoundGO:00102431560.011
nucleocytoplasmic transportGO:00069131760.011
regulation of intracellular protein transportGO:00331571230.011
muscle structure developmentGO:0061061980.011
regulation of reactive oxygen species biosynthetic processGO:190342630.011
epithelial cell differentiationGO:00308551410.010
hindbrain developmentGO:003090230.010
regulation of nervous system developmentGO:0051960880.010
regulation of cell cycle processGO:00105642660.010
cytokine metabolic processGO:0042107380.010
syncytium formation by plasma membrane fusionGO:000076820.010
visual behaviorGO:000763220.010
cardiac muscle contractionGO:0060048340.010
circulatory system processGO:00030131130.010
neuron differentiationGO:00301821380.010
negative regulation of organelle organizationGO:00106391260.010
protein acetylationGO:00064731160.010
organelle fissionGO:00482851490.010
intracellular receptor signaling pathwayGO:00305221040.010
positive regulation of endopeptidase activityGO:0010950840.010
leukocyte proliferationGO:0070661740.010
positive regulation of peptidase activityGO:0010952880.010
positive regulation of peptidyl tyrosine phosphorylationGO:0050731850.010
cellular response to nitrogen compoundGO:19016991440.010
regulation of symbiosis encompassing mutualism through parasitismGO:00439031090.010
wnt signaling pathwayGO:00160551560.010
cerebellum developmentGO:002154920.010
cell fate determinationGO:000170930.010
l amino acid importGO:004309240.010
regulation of peptidyl tyrosine phosphorylationGO:00507301080.010

RPGRIP1 disease predictions

DiseaseDO term IDSizeProbabilityFunc Analog Org
nervous system diseaseDOID:8634310.073
sensory system diseaseDOID:00501552030.073
disease of metabolismDOID:00146672950.037
inherited metabolic disorderDOID:6552420.033
retinal diseaseDOID:56791180.032
eye diseaseDOID:56141490.032
eye and adnexa diseaseDOID:14921500.032
immune system diseaseDOID:29141550.031
musculoskeletal system diseaseDOID:172230.025
central nervous system diseaseDOID:3311860.025
disease of cellular proliferationDOID:145661740.021
organ system cancerDOID:00506861640.020
cancerDOID:1621670.020
retinal degenerationDOID:8466890.018
hematopoietic system diseaseDOID:741000.015
connective tissue diseaseDOID:651090.015
neurodegenerative diseaseDOID:12891020.014
disease of mental healthDOID:150700.013
muscular diseaseDOID:00800001140.013
muscle tissue diseaseDOID:661130.013
bone diseaseDOID:0080001880.011
cone rod dystrophyDOID:0050572180.004
leber congenital amaurosisDOID:14791160.002