Mus musculus

35 known processes

P4ha2

procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha II polypeptide

(Aliases: C76437,P4hl,AA407196)

P4ha2 biological process predictions


Filter by process size:
Biological processGO term IDProcess sizeProbabilityFunc Analog Org
peptidyl proline hydroxylationGO:001951130.452
protein hydroxylationGO:001812640.397
regulation of apoptotic signaling pathwayGO:20012331970.267
4 hydroxyproline metabolic processGO:001947150.202
apoptotic signaling pathwayGO:00971903060.190
positive regulation of protein modification processGO:00314012990.138
extracellular matrix organizationGO:00301981470.135
Mouse
carbohydrate metabolic processGO:00059752300.131
extracellular structure organizationGO:00430621480.130
Mouse
oxidation reduction processGO:00551143420.118
regulation of cell motilityGO:20001452360.112
muscle cell differentiationGO:00426922610.110
peptidyl amino acid modificationGO:00181933360.096
cellular amino acid metabolic processGO:00065201030.089
cellular response to growth factor stimulusGO:00713631970.086
transmembrane receptor protein tyrosine kinase signaling pathwayGO:00071692470.085
regulation of cell adhesionGO:00301551540.085
cell matrix adhesionGO:0007160680.081
negative regulation of apoptotic signaling pathwayGO:20012341040.077
response to radiationGO:00093141650.074
positive regulation of cell adhesionGO:0045785800.071
actin cytoskeleton organizationGO:00300362200.067
response to oxidative stressGO:00069791230.066
nucleotide metabolic processGO:00091173320.066
epithelial cell developmentGO:00020641590.066
ameboidal type cell migrationGO:00016671280.065
cell growthGO:00160491300.063
regulation of organelle organizationGO:00330432890.061
cellular response to oxidative stressGO:0034599760.058
positive regulation of cell migrationGO:00303351090.057
reactive oxygen species metabolic processGO:0072593840.057
regulation of cellular amine metabolic processGO:0033238200.055
regulation of vasculature developmentGO:1901342880.055
carbohydrate derivative biosynthetic processGO:19011371830.055
cation transportGO:00068123990.053
cellular amine metabolic processGO:0044106440.053
peptidyl proline modificationGO:001820860.053
negative regulation of oxidative stress induced intrinsic apoptotic signaling pathwayGO:190217640.051
spermatogenesisGO:00072832840.051
peptidyl proline hydroxylation to 4 hydroxy l prolineGO:001840120.050
transmembrane transportGO:00550854120.050
renal system developmentGO:00720012250.050
nucleoside phosphate metabolic processGO:00067533380.050
chemotaxisGO:00069352470.049
fat cell differentiationGO:00454441600.048
cell adhesionGO:00071553290.047
muscle cell developmentGO:00550011330.047
ossificationGO:00015032160.047
muscle tissue developmentGO:00605373080.044
lung developmentGO:00303241640.044
nucleobase containing small molecule metabolic processGO:00550863520.044
cell substrate adhesionGO:00315891300.043
regulation of cellular amino acid metabolic processGO:000652150.043
regulation of angiogenesisGO:0045765810.042
protein glycosylationGO:0006486550.042
glycoprotein metabolic processGO:00091001160.042
regulation of cell morphogenesis involved in differentiationGO:00107691510.042
blood vessel morphogenesisGO:00485142850.042
regulation of cell cycleGO:00517262810.041
negative regulation of cellular component organizationGO:00511291940.041
negative regulation of intracellular signal transductionGO:19025321670.040
cellular ketone metabolic processGO:0042180840.040
germ cell developmentGO:00072811850.039
anatomical structure homeostasisGO:00602491450.039
angiogenesisGO:00015252010.039
response to oxygen levelsGO:0070482620.038
multicellular organism growthGO:00352641610.038
negative regulation of molecular functionGO:00440922580.038
regulation of hydrolase activityGO:00513362460.037
cell type specific apoptotic processGO:00972852680.037
purine nucleoside metabolic processGO:00422782410.037
response to growth factorGO:00708481980.037
regulation of cell migrationGO:00303342190.037
multicellular organismal homeostasisGO:00488711640.037
negative regulation of cell proliferationGO:00082852960.037
macromolecule glycosylationGO:0043413550.036
amine metabolic processGO:0009308450.036
camera type eye developmentGO:00430102660.035
tubulin complex biogenesisGO:007266820.035
extrinsic apoptotic signaling pathwayGO:00971911260.035
response to uv aGO:007014110.035
morphogenesis of a branching structureGO:00017632030.035
positive regulation of cell motilityGO:20001471160.035
positive regulation of growthGO:00459271040.035
organic cyclic compound catabolic processGO:19013612950.033
actomyosin structure organizationGO:0031032560.033
g protein coupled receptor signaling pathwayGO:00071862430.033
tissue homeostasisGO:00018941150.033
digestive tract developmentGO:00485651900.032
small gtpase mediated signal transductionGO:0007264970.032
response to decreased oxygen levelsGO:0036293590.032
respiratory tube developmentGO:00303231670.032
nitrogen compound transportGO:00717052710.031
glycosylationGO:0070085620.031
anion transportGO:00068201770.031
regulation of system processGO:00440572000.031
gland developmentGO:00487323300.030
heart processGO:0003015940.030
striated muscle myosin thick filament assemblyGO:007168810.030
heart contractionGO:0060047930.030
regionalizationGO:00030023370.030
positive regulation of protein phosphorylationGO:00019342420.030
negative regulation of neuron apoptotic processGO:0043524920.030
nucleotide catabolic processGO:00091662170.030
striated muscle tissue developmentGO:00147062930.030
regulation of secretionGO:00510462740.029
blood circulationGO:00080151950.029
purine containing compound catabolic processGO:00725232130.029
stem cell developmentGO:00488642190.029
respiratory system developmentGO:00605411900.029
kidney developmentGO:00018222130.029
single organism cell adhesionGO:00986021560.029
oviduct developmentGO:006006630.029
embryonic organ morphogenesisGO:00485622760.029
urogenital system developmentGO:00016552610.028
negative regulation of phosphorylationGO:00423261660.028
epithelial cell proliferationGO:00506731740.028
male gamete generationGO:00482322850.028
glycoprotein biosynthetic processGO:0009101890.028
myotube differentiationGO:00149021050.028
cellular protein complex assemblyGO:00436231160.028
actin filament organizationGO:00070151130.027
purine ribonucleotide catabolic processGO:00091542080.027
negative regulation of growthGO:0045926990.027
regulation of protein serine threonine kinase activityGO:00719001570.027
striated muscle contractionGO:0006941450.027
regulation of actin filament based processGO:0032970990.027
negative regulation of neuron deathGO:1901215980.027
response to light stimulusGO:00094161350.026
vascular endothelial growth factor signaling pathwayGO:0038084100.026
single organismal cell cell adhesionGO:00163371310.026
purine containing compound metabolic processGO:00725213110.026
response to organonitrogen compoundGO:00102432460.026
wound healingGO:00420601570.026
epithelial cell migrationGO:0010631630.026
regulation of neuron apoptotic processGO:00435231220.026
mesoderm developmentGO:00074981000.026
morphogenesis of a branching epitheliumGO:00611381930.026
regulation of intrinsic apoptotic signaling pathwayGO:2001242610.026
intrinsic apoptotic signaling pathwayGO:00971931320.025
macromolecule catabolic processGO:00090572810.025
sensory organ morphogenesisGO:00905962420.025
leukocyte differentiationGO:00025213420.025
regulation of peptidase activityGO:0052547960.025
cellular carbohydrate metabolic processGO:00442621190.025
purine ribonucleoside triphosphate metabolic processGO:00092052200.024
transmembrane receptor protein serine threonine kinase signaling pathwayGO:00071781940.024
regulation of transferase activityGO:00513382630.024
stem cell differentiationGO:00488632680.024
ion transmembrane transportGO:00342203610.024
cellular response to organonitrogen compoundGO:00714171450.024
tissue migrationGO:0090130680.024
morphogenesis of embryonic epitheliumGO:00163311590.024
regulation of synaptic growth at neuromuscular junctionGO:000858240.023
neuron apoptotic processGO:00514021420.023
body morphogenesisGO:0010171450.023
response to heatGO:0009408270.023
regulation of cytoskeleton organizationGO:00514931220.023
ribonucleotide metabolic processGO:00092592910.022
cellular response to extracellular stimulusGO:0031668810.022
regulation of homeostatic processGO:00328441820.022
negative regulation of nervous system developmentGO:00519611560.022
cellular nitrogen compound catabolic processGO:00442702800.022
response to inorganic substanceGO:0010035960.022
gastrulationGO:00073691160.022
regulation of secretion by cellGO:19035302490.022
vegf activated neuropilin signaling pathwayGO:003819020.022
sphingolipid metabolic processGO:0006665450.022
ribonucleotide catabolic processGO:00092612080.022
nucleoside phosphate catabolic processGO:19012922220.022
cellular homeostasisGO:00197252400.021
carbohydrate derivative catabolic processGO:19011362310.021
regulation of cell growthGO:0001558910.021
response to peptideGO:19016521360.021
response to insulinGO:00328681000.021
aromatic compound catabolic processGO:00194392860.021
protein catabolic processGO:00301632210.021
regulation of body fluid levelsGO:00508781620.021
tube formationGO:00351481400.021
membrane organizationGO:00610242450.021
cell recognitionGO:0008037830.021
peptide hormone secretionGO:00300721090.021
muscle system processGO:00030121410.021
alpha amino acid metabolic processGO:1901605590.020
cation transmembrane transportGO:00986552660.020
negative regulation of protein metabolic processGO:00512482820.020
sensory perceptionGO:00076002450.020
heart morphogenesisGO:00030071780.020
compound eye developmentGO:004874910.020
purine nucleoside catabolic processGO:00061522050.020
placenta developmentGO:00018901400.020
myosin filament assemblyGO:003103420.020
protein maturationGO:00516041760.020
connective tissue developmentGO:00614481790.020
positive regulation of apoptotic processGO:00430652170.020
regulation of response to oxidative stressGO:1902882190.020
neuron deathGO:00709971540.020
regulation of epithelial cell proliferationGO:00506781410.020
purine ribonucleoside metabolic processGO:00461282410.019
positive regulation of nervous system developmentGO:00519622210.019
regulation of epithelial cell migrationGO:0010632350.019
cardiac chamber developmentGO:00032051080.019
purine nucleotide metabolic processGO:00061633020.019
cellular response to hormone stimulusGO:00328701500.019
bone developmentGO:00603481200.019
actin mediated cell contractionGO:0070252150.019
negative regulation of hydrolase activityGO:0051346710.018
chondrocyte differentiationGO:0002062720.018
coagulationGO:0050817780.018
cardiac cell developmentGO:0055006410.018
skeletal system morphogenesisGO:00487052030.018
generation of precursor metabolites and energyGO:00060911030.018
guanosine containing compound metabolic processGO:19010681440.018
protein processingGO:00164851630.018
skin developmentGO:00435882200.018
glycosyl compound metabolic processGO:19016572460.018
response to reactive oxygen speciesGO:0000302560.018
regulation of neuron deathGO:19012141340.018
negative regulation of response to oxidative stressGO:1902883100.018
cellular component assembly involved in morphogenesisGO:00109271390.018
skeletal muscle organ developmentGO:00605381630.018
purine ribonucleoside triphosphate catabolic processGO:00092071990.018
axonogenesisGO:00074092740.018
hematopoietic progenitor cell differentiationGO:00022441430.018
oocyte constructionGO:000730820.018
collagen metabolic processGO:0032963170.018
regulation of protein kinase b signalingGO:0051896560.018
ribose phosphate metabolic processGO:00196932910.018
blood vessel endothelial cell migrationGO:0043534230.018
cardiac chamber morphogenesisGO:0003206930.018
posttranscriptional regulation of gene expressionGO:00106081550.018
regulation of anatomical structure sizeGO:00900661780.017
regulation of cysteine type endopeptidase activity involved in apoptotic processGO:0043281620.017
membrane lipid biosynthetic processGO:0046467320.017
adherens junction organizationGO:0034332280.017
regulation of ion transportGO:00432692150.017
cardiocyte differentiationGO:0035051870.017
nucleoside triphosphate metabolic processGO:00091412300.017
regulation of blood pressureGO:0008217930.017
negative regulation of phosphorus metabolic processGO:00105631840.017
regulation of cytokine productionGO:00018172660.017
purine nucleoside triphosphate catabolic processGO:00091462030.017
cardiac muscle contractionGO:0060048320.017
response to organic cyclic compoundGO:00140701980.017
inflammatory responseGO:00069542440.017
formation of primary germ layerGO:0001704770.017
cellular response to external stimulusGO:0071496880.017
epithelial tube morphogenesisGO:00605623030.017
regulation of fat cell differentiationGO:0045598810.017
acetate ester transportGO:190137420.017
epidermis developmentGO:00085441870.017
neuropilin signaling pathwayGO:003818920.017
negative regulation of cellular response to oxidative stressGO:1900408100.017
monosaccharide metabolic processGO:00059961060.016
regulation of cellular component biogenesisGO:00440871810.016
cytokine metabolic processGO:0042107710.016
positive regulation of cell morphogenesis involved in differentiationGO:0010770720.016
multicellular organismal macromolecule metabolic processGO:0044259190.016
ras protein signal transductionGO:0007265770.016
inorganic cation transmembrane transportGO:00986622070.016
cellular response to abiotic stimulusGO:0071214560.016
organonitrogen compound catabolic processGO:19015652640.016
regulation of cytokine biosynthetic processGO:0042035590.016
heterocycle catabolic processGO:00467002800.016
branching morphogenesis of an epithelial tubeGO:00487541590.016
endomembrane system organizationGO:00102561470.016
negative regulation of phosphate metabolic processGO:00459361840.016
positive regulation of protein kinase activityGO:00458601440.016
lipid transportGO:0006869980.016
cardiac muscle tissue developmentGO:00487381300.016
microtubule based processGO:00070172360.016
positive regulation of cell substrate adhesionGO:0010811470.016
regulation of ras protein signal transductionGO:00465781140.016
organonitrogen compound biosynthetic processGO:19015661920.016
developmental maturationGO:00217001930.016
endochondral bone morphogenesisGO:0060350500.015
nephron developmentGO:00720061090.015
protein kinase b signalingGO:0043491740.015
nucleoside metabolic processGO:00091162460.015
negative regulation of protein modification processGO:00314001630.015
glucose homeostasisGO:00425931280.015
positive regulation of mapk cascadeGO:00434101700.015
organophosphate catabolic processGO:00464342320.015
tubulin complex assemblyGO:000702120.015
positive regulation of cell cycleGO:0045787920.015
negative regulation of cell adhesionGO:0007162450.015
circulatory system processGO:00030131970.015
basement membrane assemblyGO:007083120.015
blood coagulationGO:0007596760.015
rhythmic processGO:00485111740.015
female gamete generationGO:0007292740.015
oocyte axis specificationGO:000730920.015
response to nutrient levelsGO:00316671090.015
localization within membraneGO:005166840.015
positive regulation of cellular amino acid metabolic processGO:004576430.015
negative regulation of intrinsic apoptotic signaling pathwayGO:2001243340.015
positive regulation of cell developmentGO:00107202370.015
regulation of ion transmembrane transportGO:00347651190.015
acetylcholine transportGO:001587020.015
apical constrictionGO:000338340.015
cellular response to dna damage stimulusGO:00069742070.015
positive regulation of programmed cell deathGO:00430682180.015
response to temperature stimulusGO:0009266550.015
regulation of striated muscle cell differentiationGO:0051153810.014
lymphocyte proliferationGO:00466511640.014
actin filament based movementGO:0030048230.014
regulation of proteolysisGO:00301621640.014
homeostasis of number of cellsGO:00488722100.014
locomotory behaviorGO:00076261950.014
regulation of protein maturationGO:1903317960.014
nucleoside triphosphate catabolic processGO:00091432050.014
purine ribonucleotide metabolic processGO:00091502900.014
regulation of wnt signaling pathwayGO:00301111230.014
peptidyl tyrosine modificationGO:00182121450.014
wnt signaling pathwayGO:00160551880.014
axon guidanceGO:00074111410.014
intrinsic apoptotic signaling pathway in response to oxidative stressGO:0008631190.014
nucleoside catabolic processGO:00091642060.014
regulation of ossificationGO:00302781120.014
positive regulation of lymphocyte activationGO:00512511400.014
myotube cell developmentGO:0014904600.014
cytoplasmic transportGO:00164822340.014
ventral trunk neural crest cell migrationGO:003648640.014
negative regulation of cell developmentGO:00107211690.014
regulation of protein kinase activityGO:00458592320.014
epithelial cell morphogenesisGO:0003382410.014
purine nucleotide catabolic processGO:00061952110.014
ribonucleoside metabolic processGO:00091192450.014
intracellular protein transportGO:00068862040.014
organic anion transportGO:00157111370.014
chondrocyte developmentGO:0002063240.014
endothelial cell migrationGO:0043542440.014
reactive nitrogen species metabolic processGO:200105700.014
regulation of cellular catabolic processGO:00313292420.013
polysaccharide metabolic processGO:0005976390.013
cardiac ventricle developmentGO:0003231830.013
spermatid developmentGO:00072861080.013
regulation of morphogenesis of a branching structureGO:0060688530.013
response to epidermal growth factorGO:007084940.013
bone mineralizationGO:0030282540.013
regulation of cell activationGO:00508652890.013
mitochondrion organizationGO:00070051340.013
regulation of cellular response to stressGO:00801351590.013
protein localization to organelleGO:00333651850.013
multicellular organismal metabolic processGO:0044236280.013
carbohydrate homeostasisGO:00335001280.013
neural tube formationGO:00018411080.013
digestive system developmentGO:00551232000.013
regulation of cellular ketone metabolic processGO:0010565660.013
multi multicellular organism processGO:00447061090.013
positive regulation of cellular amine metabolic processGO:003324050.013
carboxylic acid transportGO:00469421000.013
synapse organizationGO:00508081250.013
regulation of transmembrane receptor protein serine threonine kinase signaling pathwayGO:00900921120.013
cell chemotaxisGO:0060326810.013
cell junction assemblyGO:0034329520.013
negative regulation of cellular protein metabolic processGO:00322692470.013
regulation of endopeptidase activityGO:0052548890.013
actin filament polymerizationGO:0030041440.013
regulation of defense responseGO:00313472330.013
receptor mediated endocytosisGO:0006898510.013
organic hydroxy compound transportGO:0015850930.013
chromatin organizationGO:00063252060.013
positive regulation of tumor necrosis factor productionGO:0032760300.013
positive regulation of reactive oxygen species metabolic processGO:2000379110.013
ribonucleoside triphosphate catabolic processGO:00092031990.013
inorganic ion transmembrane transportGO:00986602340.013
myosin filament organizationGO:003103330.013
regulation of multi organism processGO:00439001110.013
mesoderm morphogenesisGO:0048332640.012
ribonucleoside triphosphate metabolic processGO:00091992200.012
positive regulation of organelle organizationGO:00106381280.012
carbohydrate catabolic processGO:0016052320.012
striated muscle cell developmentGO:00550021250.012
regulation of protein catabolic processGO:00421761080.012
regulation of generation of precursor metabolites and energyGO:0043467380.012
nephron tubule developmentGO:0072080840.012
regulation of nucleotide catabolic processGO:00308111220.012
positive regulation of angiogenesisGO:0045766460.012
regulation of hormone levelsGO:00108172110.012
second messenger mediated signalingGO:0019932730.012
negative regulation of response to woundingGO:1903035770.012
regulation of metal ion transportGO:00109591060.012
membrane lipid metabolic processGO:0006643530.012
muscle contractionGO:00069361010.012
regulation of embryonic developmentGO:0045995710.012
cellular response to transforming growth factor beta stimulusGO:0071560880.012
nucleotide sugar metabolic processGO:000922540.012
t cell activationGO:00421102890.012
cellular response to amino acid stimulusGO:0071230290.012
endothelium developmentGO:0003158450.012
response to starvationGO:0042594650.012
sphingolipid biosynthetic processGO:0030148260.012
epithelial tube formationGO:00721751300.012
negative regulation of proteolysisGO:0045861740.012
cellular chemical homeostasisGO:00550822150.012
regulation of reactive oxygen species metabolic processGO:2000377400.012
misfolded protein transportGO:007084310.012
regulation of cellular component sizeGO:00325351210.012
mitotic cytokinesisGO:000028140.012
retina development in camera type eyeGO:00600411190.012
positive regulation of cytokine biosynthetic processGO:0042108400.012
determination of left right symmetryGO:0007368800.012
regulation of mapk cascadeGO:00434082480.012
regulation of chemotaxisGO:0050920530.012
mesodermal cell migrationGO:000807840.012
sensory system developmentGO:004888030.012
negative regulation of protein processingGO:0010955790.012
lateral inhibitionGO:004633110.012
cytokine productionGO:00018163190.012
peptide secretionGO:00027901140.012
positive regulation of cellular component biogenesisGO:0044089940.012
organic acid transportGO:00158491010.012
response to peptide hormoneGO:00434341270.011
epithelium migrationGO:0090132630.011
negative regulation of oxidative stress induced cell deathGO:190320290.011
regulation of actin cytoskeleton organizationGO:0032956840.011
body fluid secretionGO:0007589530.011
myeloid cell homeostasisGO:00022621140.011
mitotic cell cycleGO:00002781950.011
modification dependent protein catabolic processGO:00199411330.011
glycosyl compound catabolic processGO:19016582060.011
maternal determination of anterior posterior axis embryoGO:000835820.011
cardiac muscle fiber developmentGO:004873940.011
meiotic cell cycleGO:00513211220.011
zygotic determination of anterior posterior axis embryoGO:000735430.011
substrate dependent cell migration cell attachment to substrateGO:000693120.011
metanephric glomerular endothelium developmentGO:007226410.011
paracrine signalingGO:003800110.011
molting cycleGO:0042303900.011
lipid localizationGO:00108761260.011
protein foldingGO:0006457280.011
response to uvGO:0009411440.011
gonad developmentGO:00084061410.011
endocytosisGO:00068971680.011
segmentationGO:0035282930.011
regulation of muscle system processGO:0090257800.011
organophosphate biosynthetic processGO:00904071220.011
endothelial cell differentiationGO:0045446410.011
positive regulation of proteolysisGO:0045862850.011
skeletal system developmentGO:00015013560.011
negative regulation of cellular response to growth factor stimulusGO:0090288460.011
neurotransmitter transportGO:0006836760.011
leukocyte migrationGO:00509001240.011
regulation of transmembrane transportGO:00347621280.011
positive regulation of endothelial cell chemotaxisGO:200102810.011
telencephalon developmentGO:00215371860.011
hormone secretionGO:00468791280.011
dna metabolic processGO:00062593030.011
response to transforming growth factor betaGO:0071559880.011
development of primary sexual characteristicsGO:00451371430.011
positive regulation of secretionGO:00510471300.011
negative regulation of protein maturationGO:1903318790.011
regulation of purine nucleotide metabolic processGO:19005421690.011
protein polymerizationGO:0051258570.010
mesenchyme developmentGO:00604851520.010
learningGO:0007612980.010
adult behaviorGO:00305341350.010
ubiquitin dependent protein catabolic processGO:00065111290.010
hemostasisGO:0007599780.010
mesenchymal cell developmentGO:0014031930.010
cardiac muscle cell differentiationGO:0055007690.010
regulation of interleukin 8 productionGO:003267730.010
vascular process in circulatory systemGO:0003018620.010
regulation of protein localizationGO:00328802310.010
response to amino acidGO:0043200370.010
metanephric glomerular epithelium developmentGO:007224430.010
regulation of muscle tissue developmentGO:1901861970.010

P4ha2 disease predictions

Disease predictions are made from cross-annotation of human disease genes to the identified functional analogs in mouse and predicted with the mouse functional network.

DiseaseDO term IDSizeProbabilityFunc Analog Org
disease of anatomical entityDOID:700.322
muscle tissue diseaseDOID:6600.322
muscular diseaseDOID:008000000.322
musculoskeletal system diseaseDOID:1700.322
myopathyDOID:42300.094
nervous system diseaseDOID:86300.085
heart diseaseDOID:11400.071
cardiovascular system diseaseDOID:128700.071
neuromuscular diseaseDOID:44000.057
neuropathyDOID:87000.057
central nervous system diseaseDOID:33100.057
cardiomyopathyDOID:005070000.046
bone diseaseDOID:008000100.045
bone development diseaseDOID:008000600.045
connective tissue diseaseDOID:6500.045
intrinsic cardiomyopathyDOID:006003600.039
charcot marie tooth diseaseDOID:1059500.029
disease of metabolismDOID:001466700.029
sensory system diseaseDOID:005015500.023
eye and adnexa diseaseDOID:149200.023
inherited metabolic disorderDOID:65500.022
eye diseaseDOID:561400.020
neurodegenerative diseaseDOID:128900.019
motor neuron diseaseDOID:23100.015
charcot marie tooth disease type 2DOID:005053900.013
osteochondrodysplasiaDOID:225600.012
immune system diseaseDOID:291400.011