Homo sapiens

8 known processes

NPHP1

nephronophthisis 1 (juvenile)

(Aliases: FLJ97602,JBTS4,SLSN1,NPH1)

NPHP1 biological process predictions


Filter by process size:
Biological processGO term IDProcess sizeProbabilityFunc Analog Org
mesonephric duct developmentGO:007217730.868
epidermal growth factor activated receptor transactivation by g protein coupled receptor signaling pathwayGO:003562540.576
cartilage condensationGO:000150210.166
metanephric nephron tubule morphogenesisGO:007228210.162
proximal tubule developmentGO:007201410.121
cell aggregationGO:009874310.112
receptor transactivationGO:003562440.098
cellular ketone metabolic processGO:0042180800.093
positive regulation of phosphorylationGO:00423273940.090
regulation of cyclin dependent protein serine threonine kinase activityGO:0000079360.086
positive regulation of protein phosphorylationGO:00019343130.085
metanephric collecting duct developmentGO:007220520.083
cellular amino acid metabolic processGO:00065201160.075
regulation of proteolysisGO:00301622930.074
regulation of cellular amino acid metabolic processGO:000652160.074
cellular amine metabolic processGO:0044106410.074
regulation of protein kinase activityGO:00458592890.072
regulation of cell cycleGO:00517263930.072
cell adhesionGO:00071553250.071
amine metabolic processGO:0009308440.068
nephric duct developmentGO:007217640.067
detection of mechanical stimulusGO:005098240.064
metanephric nephron epithelium developmentGO:007224340.062
divalent inorganic cation homeostasisGO:00725071360.061
regulation of cellular amine metabolic processGO:0033238110.059
regulation of cellular ketone metabolic processGO:0010565500.058
cytoplasmic transportGO:00164823790.058
negative regulation of transportGO:00510511760.056
positive regulation of cellular amine metabolic processGO:003324070.055
inorganic ion transmembrane transportGO:00986602310.054
intracellular protein transportGO:00068862700.052
regulation of cell adhesionGO:00301551660.052
cellular divalent inorganic cation homeostasisGO:00725031280.051
positive regulation of protein kinase activityGO:00458601900.051
positive regulation of cellular amino acid metabolic processGO:004576430.050
response to abiotic stimulusGO:00096283360.050
regulation of protein serine threonine kinase activityGO:00719001790.049
regulation of kinase activityGO:00435493140.049
metal ion homeostasisGO:00550651690.048
cation transportGO:00068123310.048
metanephric nephron tubule developmentGO:007223430.048
calcium ion transmembrane transportGO:0070588760.046
post embryonic developmentGO:000979120.045
proteolysis involved in cellular protein catabolic processGO:00516032440.045
positive regulation of kinase activityGO:00336742040.045
single organism cell adhesionGO:00986021790.044
metal ion transportGO:00300012720.044
distal tubule developmentGO:007201740.044
cellular cation homeostasisGO:00300031630.044
divalent inorganic cation transportGO:00725111580.043
ion homeostasisGO:00508012300.043
divalent metal ion transportGO:00708381520.043
cytosolic calcium ion homeostasisGO:0051480890.042
multicellular organismal agingGO:001025930.042
protein localization to organelleGO:00333652800.042
regenerationGO:003109940.042
cellular protein catabolic processGO:00442572610.041
transmembrane transportGO:00550853990.040
cellular chemical homeostasisGO:00550821800.040
mitotic cell cycleGO:00002783260.039
regulation of transferase activityGO:00513383550.039
regulation of cell cycle processGO:00105642660.039
embryonic placenta developmentGO:000189210.039
cellular calcium ion homeostasisGO:00068741170.038
calcium ion transportGO:00068161470.038
cardiovascular system developmentGO:00723582620.038
cellular homeostasisGO:00197251960.038
positive regulation of transferase activityGO:00513472270.038
chemical homeostasisGO:00488783060.037
inorganic cation transmembrane transportGO:00986621940.037
regulation of proteasomal protein catabolic processGO:0061136870.037
defense responseGO:00069523150.037
cellular ion homeostasisGO:00068731680.035
metanephric tubule developmentGO:007217030.035
regulation of proteolysis involved in cellular protein catabolic processGO:1903050910.035
cellular component morphogenesisGO:00329893140.035
regulation of bindingGO:00510981110.035
nucleoside triphosphate metabolic processGO:00091414220.034
response to biotic stimulusGO:00096072760.034
epithelium developmentGO:00604292270.034
nucleotide catabolic processGO:00091664080.034
regulation of protein transportGO:00512232130.034
mitotic cell cycle processGO:19030472860.034
cation transmembrane transportGO:00986552380.033
single organism cellular localizationGO:19025803320.033
regulation of protein bindingGO:0043393660.033
innate immune responseGO:00450871780.032
immune responseGO:00069553070.032
negative regulation of protein metabolic processGO:00512483910.032
negative regulation of cell cycleGO:00457861930.032
regulation of establishment of protein localizationGO:00702012420.032
determination of adult lifespanGO:000834020.032
protein catabolic processGO:00301633250.032
positive regulation of catabolic processGO:00098963100.032
cytokine productionGO:00018162470.031
positive regulation of cyclin dependent protein serine threonine kinase activityGO:0045737150.031
segmentationGO:003528240.031
cellular response to endogenous stimulusGO:00714953360.031
vesicle mediated transportGO:00161923710.031
calcium ion homeostasisGO:00550741220.030
mitotic cell cycle phase transitionGO:00447721620.030
spinal cord developmentGO:002151040.030
cell cycle phase transitionGO:00447701730.030
single organism membrane organizationGO:00448022680.030
ion transmembrane transportGO:00342203380.030
lipid metabolic processGO:00066293810.030
regulation of secretion by cellGO:19035301770.029
response to oxygen containing compoundGO:19017003690.029
regulation of microtubule cytoskeleton organizationGO:0070507610.028
maintenance of locationGO:00512351120.028
positive regulation of cytosolic calcium ion concentrationGO:0007204820.028
positive regulation of immune system processGO:00026842830.028
tissue morphogenesisGO:0048729960.028
metanephric loop of henle developmentGO:007223620.028
negative regulation of catalytic activityGO:00430863350.028
tissue regenerationGO:004224630.028
regulation of microtubule based processGO:0032886740.028
female gamete generationGO:000729220.028
biological adhesionGO:00226103310.028
regulation of protein catabolic processGO:00421761550.027
regulation of vesicle mediated transportGO:00606271300.027
metanephric distal tubule developmentGO:007223520.027
negative regulation of locomotionGO:00400131180.027
enzyme linked receptor protein signaling pathwayGO:00071673030.027
memoryGO:000761330.027
regulation of protein localizationGO:00328802960.027
oogenesisGO:004847720.027
regulation of cell matrix adhesionGO:0001952420.026
purine ribonucleoside triphosphate catabolic processGO:00092073910.026
negative regulation of phosphorus metabolic processGO:00105632670.026
reactive nitrogen species metabolic processGO:200105730.026
artery smooth muscle contractionGO:001482430.026
response to external biotic stimulusGO:00432072610.026
microtubule based processGO:00070172100.026
response to lipidGO:00339932060.025
circulatory system developmentGO:00723592620.025
jak stat cascadeGO:0007259460.025
positive regulation of apoptotic processGO:00430652460.025
regulation of cytokine productionGO:00018172320.025
detection of stimulusGO:0051606850.025
cell morphogenesisGO:00009022960.024
purine nucleotide catabolic processGO:00061954050.024
g protein coupled receptor signaling pathwayGO:00071862070.024
ribonucleoside catabolic processGO:00424544060.024
single organismal cell cell adhesionGO:00163371480.024
regulation of intracellular transportGO:00323861950.024
negative regulation of cellular protein metabolic processGO:00322693530.024
positive regulation of transportGO:00510503360.024
purine nucleoside catabolic processGO:00061523980.024
peptidyl tyrosine phosphorylationGO:00181081700.024
ribonucleoside triphosphate metabolic processGO:00091994120.024
regulation of cytoplasmic transportGO:19036491490.024
regulation of purine nucleotide metabolic processGO:19005422640.024
protein targetingGO:00066051870.024
positive regulation of protein serine threonine kinase activityGO:00719021190.024
purine ribonucleoside triphosphate metabolic processGO:00092054110.023
establishment of protein localization to organelleGO:00725941720.023
cation homeostasisGO:00550801890.023
morphogenesis of an epitheliumGO:0002009600.023
photoreceptor cell differentiationGO:004653020.023
Mouse
cellular macromolecule catabolic processGO:00442653800.023
ribonucleoside triphosphate catabolic processGO:00092033910.023
organelle assemblyGO:00709251760.023
protein importGO:00170381300.023
protein processingGO:00164852260.023
positive regulation of reactive oxygen species biosynthetic processGO:190342820.023
positive regulation of cell proliferationGO:00082843010.023
negative regulation of growthGO:0045926970.023
anterior posterior axis specificationGO:000994820.023
neuromuscular junction developmentGO:000752830.022
purine containing compound catabolic processGO:00725234110.022
positive regulation of cyclin dependent protein serine threonine kinase activity involved in g1 s transition of mitotic cell cycleGO:003165980.022
positive regulation of hydrolase activityGO:00513453310.022
positive regulation of cell cycleGO:00457871400.022
peptidyl tyrosine modificationGO:00182121700.022
positive regulation of cellular catabolic processGO:00313312840.022
negative regulation of multicellular organismal processGO:00512413170.022
regulation of cell migrationGO:00303342890.022
response to other organismGO:00517072610.022
negative regulation of cell growthGO:0030308830.022
purine nucleoside triphosphate catabolic processGO:00091463920.022
g1 s transition of mitotic cell cycleGO:0000082780.022
regulation of intracellular protein transportGO:00331571230.022
regulation of nucleocytoplasmic transportGO:0046822980.021
secretion by cellGO:00329402260.021
protein localization to nucleusGO:00345041360.021
kidney developmentGO:0001822530.021
tonic smooth muscle contractionGO:001482030.021
blastoderm segmentationGO:000735020.021
associative learningGO:000830610.021
positive regulation of cytokine productionGO:00018191670.021
modification dependent protein catabolic processGO:00199412090.021
morphogenesis of embryonic epitheliumGO:001633140.021
regulation of mitotic cell cycleGO:00073461890.021
cellular response to transforming growth factor beta stimulusGO:0071560940.021
regulation of reactive oxygen species biosynthetic processGO:190342630.021
urogenital system developmentGO:0001655650.021
oxidation reduction processGO:00551143960.021
response to growth factorGO:00708482050.021
regulation of cell growthGO:00015581350.021
cell growthGO:00160491600.021
response to transforming growth factor betaGO:0071559940.020
heart developmentGO:0007507950.020
negative regulation of phosphate metabolic processGO:00459362670.020
regulation of acrosome reactionGO:006004640.020
protein kinase c activating g protein coupled receptor signaling pathwayGO:000720520.020
positive regulation of acrosome reactionGO:200034440.020
positive regulation of developmental processGO:00510943140.020
distal tubule morphogenesisGO:007215630.020
cyclic nucleotide metabolic processGO:0009187820.020
protein maturationGO:00516042330.020
skeletal system developmentGO:0001501790.019
regulation of protein targetingGO:1903533910.019
regulation of cell differentiationGO:00455953930.019
organophosphate catabolic processGO:00464344300.019
nervous system developmentGO:00073992930.019
Mouse
cell projection organizationGO:00300302520.019
Mouse
regulation of response to external stimulusGO:00321012220.019
cell cycle g1 s phase transitionGO:0044843800.019
negative regulation of protein transportGO:0051224750.019
metanephric tubule morphogenesisGO:007217310.019
cell matrix adhesionGO:0007160850.019
nuclear transportGO:00511691790.019
transmembrane receptor protein serine threonine kinase signaling pathwayGO:00071781250.019
nucleocytoplasmic transportGO:00069131760.018
vasculature developmentGO:00019441810.018
regulation of peptidyl tyrosine phosphorylationGO:00507301080.018
oocyte differentiationGO:000999420.018
secretionGO:00469032540.018
maintenance of protein locationGO:0045185570.018
hindbrain developmentGO:003090230.018
nephron morphogenesisGO:0072028150.018
modification dependent macromolecule catabolic processGO:00436322120.018
reactive oxygen species metabolic processGO:0072593750.018
apoptotic signaling pathwayGO:00971902680.018
regulation of nucleotide metabolic processGO:00061402690.018
positive regulation of cell differentiationGO:00455972110.018
positive regulation of purine nucleotide catabolic processGO:00331231850.018
cilium morphogenesisGO:0060271750.018
positive regulation of proteolysisGO:00458621420.017
locomotory behaviorGO:000762610.017
notch receptor processingGO:000722020.017
muscle system processGO:0003012810.017
nuclear importGO:00511701060.017
negative regulation of cellular amine metabolic processGO:003323930.017
organ morphogenesisGO:00098871470.017
regulation of growthGO:00400081650.017
positive regulation of cell deathGO:00109422630.017
organophosphate biosynthetic processGO:00904071630.017
ribonucleotide catabolic processGO:00092614050.017
purine ribonucleoside catabolic processGO:00461303980.017
endosomal transportGO:00161971290.017
nephron epithelium morphogenesisGO:0072088150.017
anatomical structure formation involved in morphogenesisGO:00486462840.017
cellular response to growth factor stimulusGO:00713631970.017
response to woundingGO:00096111680.017
maintenance of location in cellGO:0051651620.017
regulation of cytoskeleton organizationGO:00514931770.017
regulation of secretionGO:00510461940.017
central nervous system developmentGO:00074171230.017
regulation of protein import into nucleusGO:0042306780.017
adult locomotory behaviorGO:000834410.017
positive regulation of peptidyl tyrosine phosphorylationGO:0050731850.017
tripartite regional subdivisionGO:000735120.017
negative regulation of cellular amino acid metabolic processGO:004576320.017
regulation of cyclin dependent protein serine threonine kinase activity involved in g1 s transition of mitotic cell cycleGO:003165790.016
regulation of synaptic plasticityGO:004816730.016
protein targeting to nucleusGO:00447441040.016
cellular response to oxygen containing compoundGO:19017012760.016
small gtpase mediated signal transductionGO:0007264780.016
regulation of nucleoside metabolic processGO:00091182090.016
purine nucleoside triphosphate metabolic processGO:00091444120.016
negative regulation of protein processingGO:00109551420.016
membrane organizationGO:00610242920.016
positive regulation of cell migrationGO:00303351720.016
cellular lipid metabolic processGO:00442553030.016
protein import into nucleusGO:00066061040.016
integrin mediated signaling pathwayGO:0007229320.016
carbohydrate derivative biosynthetic processGO:19011372070.016
cilium organizationGO:0044782680.016
Mouse
gtp metabolic processGO:00460392390.016
sodium ion transmembrane transportGO:0035725590.016
renal system developmentGO:0072001630.016
response to cytokineGO:00340972320.016
ubiquitin dependent protein catabolic processGO:00065112060.016
cilium assemblyGO:0042384630.016
growthGO:00400072020.016
negative regulation of intracellular signal transductionGO:19025321830.016
mesonephric tubule developmentGO:0072164140.016
purine ribonucleoside metabolic processGO:00461284370.016
positive regulation of response to external stimulusGO:0032103880.016
regulation of protein localization to nucleusGO:1900180850.016
dephosphorylationGO:00163112090.016
regulation of cellular response to stressGO:00801352440.016
positive regulation of programmed cell deathGO:00430682490.016
long term memoryGO:000761620.016
signal transduction by phosphorylationGO:00230142970.016
negative regulation of cell migrationGO:00303361020.016
regulation of locomotionGO:00400123290.016
response to high density lipoprotein particleGO:005509910.016
sequestering of calcium ionGO:0051208170.016
negative regulation of protein maturationGO:19033181420.016
regulation of protein maturationGO:19033171500.016
protein ubiquitinationGO:00165673140.016
oocyte developmentGO:004859910.016
negative regulation of developmental processGO:00510932470.016
nuclear exportGO:0051168690.016
limbic system developmentGO:002176130.016
regulation of purine nucleotide catabolic processGO:00331212050.016
regulation of peptidase activityGO:00525471800.016
positive regulation of purine nucleotide metabolic processGO:19005442270.015
startle responseGO:000196430.015
cell divisionGO:00513011680.015
nucleoside triphosphate catabolic processGO:00091433940.015
anterior posterior axis specification embryoGO:000859520.015
single organism reproductive processGO:0044702980.015
Mouse
negative regulation of transferase activityGO:00513481240.015
peptidyl serine modificationGO:00182091060.015
organ formationGO:004864530.015
response to bacteriumGO:00096171440.015
negative regulation of hydrolase activityGO:00513461820.015
endocytosisGO:00068971590.015
positive regulation of gtpase activityGO:00435471660.015
response to mechanical stimulusGO:0009612510.015
kidney morphogenesisGO:0060993190.015
response to fungusGO:000962040.015
kidney epithelium developmentGO:0072073250.015
tube developmentGO:00352951250.015
spermatid differentiationGO:004851540.015
Mouse
negative regulation of protein modification processGO:00314002000.015
purine ribonucleotide catabolic processGO:00091544040.015
negative regulation of transcription from rna polymerase ii promoterGO:00001222810.015
protein oligomerizationGO:00512591730.015
posttranscriptional regulation of gene expressionGO:00106082130.015
proteasome mediated ubiquitin dependent protein catabolic processGO:00431611560.015
cell part morphogenesisGO:00329901370.015
negative regulation of mitotic cell cycleGO:00459301020.015
regulation of protein processingGO:00706131500.015
positive regulation of cellular component biogenesisGO:00440891580.015
endodermal cell fate commitmentGO:000171140.015
blood vessel developmentGO:00015681720.015
nucleoside phosphate catabolic processGO:19012924120.015
leukocyte migrationGO:00509001070.015
positive regulation of cellular component movementGO:00512721810.015
membrane protein proteolysisGO:0033619380.015
rhythmic behaviorGO:000762220.015
multi organism cellular processGO:00447641560.014
rna interferenceGO:001624640.014
positive regulation of reactive oxygen species metabolic processGO:2000379240.014
regulation of anatomical structure morphogenesisGO:00226032860.014
regulation of cell cycle phase transitionGO:19019871260.014
positive regulation of cellular component organizationGO:00511303760.014
cell cycle arrestGO:0007050710.014
organonitrogen compound biosynthetic processGO:19015662000.014
positive regulation of nucleoside metabolic processGO:00459791860.014
specification of organ identityGO:001009230.014
interspecies interaction between organismsGO:00444191560.014
glycosyl compound catabolic processGO:19016584130.014
cellular response to dna damage stimulusGO:00069743790.014
regulation of apoptotic signaling pathwayGO:20012331750.014
negative regulation of cell deathGO:00605483450.014
positive regulation of secretion by cellGO:19035321080.014
regulation of multi organism processGO:00439001570.014
t helper 2 cell cytokine productionGO:003574530.014
mitochondrion organizationGO:00070051560.014
regulation of meiotic cell cycleGO:005144540.014
reproductive processGO:00224141060.014
Mouse
nucleoside monophosphate metabolic processGO:00091231910.014
proteasomal protein catabolic processGO:00104981760.014
anion transportGO:00068201610.014
response to oxygen levelsGO:00704821000.014
nucleoside catabolic processGO:00091644080.014
maintenance of protein location in cellGO:0032507560.014
negative regulation of transforming growth factor beta receptor signaling pathwayGO:0030512280.014
positive regulation of organelle organizationGO:00106381950.014
protein modification by small protein conjugationGO:00324463420.014
spermatid developmentGO:000728640.014
regulation of hormone levelsGO:00108171250.014
syncytium formation by plasma membrane fusionGO:000076820.014
negative regulation of cytokine productionGO:0001818820.014
negative regulation of cell proliferationGO:00082852280.014
gland developmentGO:0048732480.014
cellular macromolecular complex assemblyGO:00346223240.014
negative regulation of proteolysisGO:00458611320.014
regulation of ion homeostasisGO:2000021730.014
reactive oxygen species biosynthetic processGO:190340940.014
actin filament based processGO:00300292240.014
positive regulation of t cell migrationGO:2000406130.014
regulation of nucleotide catabolic processGO:00308112050.014
skin developmentGO:0043588760.013
tube morphogenesisGO:0035239950.013
embryonic epithelial tube formationGO:000183840.013
regulation of chemotaxisGO:0050920740.013
leukocyte chemotaxisGO:0030595760.013
regulation of transmembrane receptor protein serine threonine kinase signaling pathwayGO:0090092900.013
cellular response to lipidGO:00713961270.013
outer dynein arm assemblyGO:003615860.013
negative regulation of apoptotic processGO:00430663160.013
ras protein signal transductionGO:0007265730.013
nucleotide biosynthetic processGO:00091651090.013
positive regulation of secretionGO:00510471160.013
cellular response to cytokine stimulusGO:00713451810.013
positive regulation of cell motilityGO:20001471770.013
cell developmentGO:00484683280.013
Mouse
epithelial tube morphogenesisGO:0060562380.013
stress activated protein kinase signaling cascadeGO:0031098940.013
negative regulation of cell cycle phase transitionGO:1901988890.013
symbiosis encompassing mutualism through parasitismGO:00444031560.013
heart morphogenesisGO:0003007480.013
negative regulation of organelle organizationGO:00106391260.013
negative regulation of programmed cell deathGO:00430693210.013
histone modificationGO:00165702510.013
cell projection assemblyGO:00300311260.013
transforming growth factor beta receptor signaling pathwayGO:0007179760.013
purine ribonucleoside monophosphate metabolic processGO:00091671860.013
regulation of transforming growth factor beta receptor signaling pathwayGO:0017015480.013
positive regulation of nucleotide metabolic processGO:00459812300.013
regulation of membrane potentialGO:0042391950.013
cellular response to histamineGO:007142030.013
positive regulation of nucleotide catabolic processGO:00308131850.013
regulation of reactive oxygen species metabolic processGO:2000377410.013
regulation of cellular component movementGO:00512703340.013
release of cytoplasmic sequestered nf kappabGO:000858840.013
cellular metal ion homeostasisGO:00068751460.013
mesenchyme developmentGO:0060485590.013
regulation of cell motilityGO:20001452990.013
cell chemotaxisGO:00603261120.013
negative regulation of cellular component organizationGO:00511292350.013
endodermal cell fate specificationGO:000171440.013
response to inorganic substanceGO:00100351270.013
metanephric nephron developmentGO:007221090.013
nitrogen compound transportGO:00717051910.012
cell substrate adhesionGO:00315891320.012
regulation of cell substrate adhesionGO:0010810680.012
positive regulation of immune responseGO:00507781590.012
negative regulation of intracellular transportGO:0032387600.012
nephron epithelium developmentGO:0072009230.012
protein homooligomerizationGO:00512601000.012
regulation of protein complex assemblyGO:00432541470.012
single organism carbohydrate metabolic processGO:00447231930.012
neurological system processGO:00508771630.012
regulation of neural precursor cell proliferationGO:200017740.012
collecting duct developmentGO:007204420.012
stem cell divisionGO:001714520.012
negative regulation of cell substrate adhesionGO:0010812240.012
visual behaviorGO:000763220.012
chromatin modificationGO:00165682980.012
matingGO:000761810.012
regulation of endocytosisGO:0030100720.012
ribonucleoside monophosphate metabolic processGO:00091611870.012
regulation of immune responseGO:00507762010.012
second messenger mediated signalingGO:0019932780.012
negative regulation of cellular response to growth factor stimulusGO:0090288410.012
neural tube formationGO:000184130.012
nucleoside phosphate biosynthetic processGO:19012931090.012
interleukin 8 productionGO:0032637510.012
regulation of ras gtpase activityGO:00323181280.012
organelle fissionGO:00482851490.012
compound eye developmentGO:004874910.012
neuroblast proliferationGO:000740540.012
response to organic cyclic compoundGO:00140702040.012
regulation of cellular response to growth factor stimulusGO:0090287760.012
regulation of sequence specific dna binding transcription factor activityGO:00510902110.012
mesonephros developmentGO:0001823170.012
immune response activating signal transductionGO:0002757900.012
positive regulation of synaptic transmissionGO:005080640.012
cell morphogenesis involved in differentiationGO:00009041440.012
rho protein signal transductionGO:0007266260.012
sleepGO:003043120.012
sensory perception of smellGO:000760820.012
purine nucleoside monophosphate metabolic processGO:00091261860.012
motor neuron axon guidanceGO:000804520.012

NPHP1 disease predictions

DiseaseDO term IDSizeProbabilityFunc Analog Org
musculoskeletal system diseaseDOID:172230.027
sensory system diseaseDOID:00501552030.023
nervous system diseaseDOID:8634310.023
disease of metabolismDOID:00146672950.023
eye diseaseDOID:56141490.022
eye and adnexa diseaseDOID:14921500.022
inherited metabolic disorderDOID:6552420.018
muscular diseaseDOID:00800001140.017
central nervous system diseaseDOID:3311860.017
retinal diseaseDOID:56791180.017
primary ciliary dyskinesiaDOID:9562270.016
meckel syndromeDOID:0050778110.015
disease of cellular proliferationDOID:145661740.015
cancerDOID:1621670.015
organ system cancerDOID:00506861640.015
joubert syndromeDOID:0050777180.015
cardiovascular system diseaseDOID:12871060.015
immune system diseaseDOID:29141550.014
muscle tissue diseaseDOID:661130.013
bone diseaseDOID:0080001880.013
connective tissue diseaseDOID:651090.013