Homo sapiens

0 known processes

EXTL1

exostoses (multiple)-like 1

(Aliases: MGC70794,EXTL)

EXTL1 biological process predictions


Filter by process size:
Biological processGO term IDProcess sizeProbabilityFunc Analog Org
metal ion transportGO:00300012720.172
cation transportGO:00068123310.164
amine metabolic processGO:0009308440.155
transmembrane transportGO:00550853990.127
ion transmembrane transportGO:00342203380.120
regulation of cellular amine metabolic processGO:0033238110.114
regulation of nucleotide metabolic processGO:00061402690.108
cellular ketone metabolic processGO:0042180800.106
regulation of cellular amino acid metabolic processGO:000652160.102
positive regulation of cellular amino acid metabolic processGO:004576430.099
inorganic cation transmembrane transportGO:00986621940.097
cellular amine metabolic processGO:0044106410.097
nucleoside phosphate catabolic processGO:19012924120.095
inorganic ion transmembrane transportGO:00986602310.095
regulation of ion transmembrane transportGO:00347651320.093
ribonucleotide catabolic processGO:00092614050.092
nucleoside catabolic processGO:00091644080.092
cellular lipid metabolic processGO:00442553030.089
regulation of locomotionGO:00400123290.087
regulation of ion transportGO:00432691890.086
ion homeostasisGO:00508012300.085
organophosphate catabolic processGO:00464344300.085
g protein coupled receptor signaling pathwayGO:00071862070.084
cellular cation homeostasisGO:00300031630.082
regulation of cellular ketone metabolic processGO:0010565500.082
purine containing compound catabolic processGO:00725234110.081
purine nucleoside triphosphate catabolic processGO:00091463920.080
purine ribonucleotide catabolic processGO:00091544040.079
actin filament based processGO:00300292240.079
ribonucleoside triphosphate catabolic processGO:00092033910.079
cellular response to endogenous stimulusGO:00714953360.079
purine nucleotide catabolic processGO:00061954050.079
purine ribonucleoside catabolic processGO:00461303980.078
regulation of transmembrane transportGO:00347621390.078
nucleoside triphosphate catabolic processGO:00091433940.077
lipid metabolic processGO:00066293810.077
cation transmembrane transportGO:00986552380.077
positive regulation of transportGO:00510503360.077
cellular amino acid metabolic processGO:00065201160.076
positive regulation of cellular amine metabolic processGO:003324070.074
muscle system processGO:0003012810.073
glycosyl compound catabolic processGO:19016584130.073
nucleoside triphosphate metabolic processGO:00091414220.073
organonitrogen compound biosynthetic processGO:19015662000.072
locomotory behaviorGO:000762610.072
chemical homeostasisGO:00488783060.069
purine nucleoside triphosphate metabolic processGO:00091444120.069
striated muscle contractionGO:0006941520.068
ribonucleoside triphosphate metabolic processGO:00091994120.065
secretion by cellGO:00329402260.065
cell developmentGO:00484683280.064
purine ribonucleoside metabolic processGO:00461284370.061
cytokine productionGO:00018162470.058
regulation of purine nucleotide metabolic processGO:19005422640.058
purine ribonucleoside triphosphate catabolic processGO:00092073910.058
circulatory system processGO:00030131130.058
response to oxygen containing compoundGO:19017003690.058
ribonucleoside catabolic processGO:00424544060.057
purine nucleoside catabolic processGO:00061523980.056
carbohydrate derivative biosynthetic processGO:19011372070.056
monovalent inorganic cation transportGO:00156721280.055
regulation of synaptic plasticityGO:004816730.055
regulation of cellular component movementGO:00512703340.054
biological adhesionGO:00226103310.054
system processGO:00030083490.054
cell adhesionGO:00071553250.054
cellular calcium ion homeostasisGO:00068741170.054
purine ribonucleoside triphosphate metabolic processGO:00092054110.053
divalent inorganic cation homeostasisGO:00725071360.053
response to abiotic stimulusGO:00096283360.051
cellular component morphogenesisGO:00329893140.051
cellular chemical homeostasisGO:00550821800.050
cellular divalent inorganic cation homeostasisGO:00725031280.050
post embryonic developmentGO:000979120.049
cellular response to growth factor stimulusGO:00713631970.049
cell cell signalingGO:00072671550.047
adenylate cyclase modulating g protein coupled receptor signaling pathwayGO:0007188430.047
nucleotide catabolic processGO:00091664080.046
regulation of metal ion transportGO:00109591200.046
ras protein signal transductionGO:0007265730.046
negative regulation of transportGO:00510511760.045
vesicle mediated transportGO:00161923710.045
cellular response to oxygen containing compoundGO:19017012760.045
positive regulation of cellular component organizationGO:00511303760.045
regulation of actin filament based processGO:00329701410.044
cellular ion homeostasisGO:00068731680.044
actin filament based movementGO:0030048170.044
protein oligomerizationGO:00512591730.044
circulatory system developmentGO:00723592620.043
negative regulation of catalytic activityGO:00430863350.043
cell morphogenesisGO:00009022960.043
regulation of ion transmembrane transporter activityGO:0032412720.042
regulation of hormone levelsGO:00108171250.042
multicellular organismal agingGO:001025930.042
regulation of secretion by cellGO:19035301770.042
regulation of transmembrane transporter activityGO:0022898740.041
positive regulation of hydrolase activityGO:00513453310.041
calcium ion transportGO:00068161470.040
secretionGO:00469032540.040
negative regulation of phosphorus metabolic processGO:00105632670.040
cation homeostasisGO:00550801890.040
regulation of system processGO:00440571010.040
muscle contractionGO:0006936730.040
nucleoside phosphate biosynthetic processGO:19012931090.039
negative regulation of phosphate metabolic processGO:00459362670.038
female gamete generationGO:000729220.038
regulation of anatomical structure morphogenesisGO:00226032860.038
adult locomotory behaviorGO:000834410.038
cardiac muscle cell contractionGO:008600340.038
regulation of transferase activityGO:00513383550.038
response to growth factorGO:00708482050.038
nucleoside monophosphate metabolic processGO:00091231910.037
neuromuscular junction developmentGO:000752830.037
regulation of purine nucleotide catabolic processGO:00331212050.037
purine nucleoside monophosphate catabolic processGO:00091281580.037
regulation of protein localizationGO:00328802960.037
organophosphate biosynthetic processGO:00904071630.037
actin cytoskeleton organizationGO:00300362070.036
regulation of cell motilityGO:20001452990.036
regulation of nucleoside metabolic processGO:00091182090.036
heart processGO:0003015620.036
cardiovascular system developmentGO:00723582620.036
regulation of cell migrationGO:00303342890.035
negative regulation of multicellular organismal processGO:00512413170.035
neurological system processGO:00508771630.035
cellular homeostasisGO:00197251960.035
cellular macromolecular complex assemblyGO:00346223240.034
negative regulation of cytosolic calcium ion concentrationGO:005148110.034
positive regulation of immune system processGO:00026842830.034
epithelium migrationGO:00901321190.034
cyclic purine nucleotide metabolic processGO:0052652600.034
metal ion homeostasisGO:00550651690.033
positive regulation of organelle organizationGO:00106381950.033
regulation of secretionGO:00510461940.033
blood circulationGO:00080151130.033
positive regulation of nucleotide metabolic processGO:00459812300.033
potassium ion transportGO:0006813620.033
negative regulation of secretionGO:0051048580.033
anatomical structure formation involved in morphogenesisGO:00486462840.033
divalent inorganic cation transportGO:00725111580.033
positive regulation of phosphorylationGO:00423273940.033
determination of adult lifespanGO:000834020.033
divalent metal ion transportGO:00708381520.032
nucleoside monophosphate catabolic processGO:00091251590.032
cyclic nucleotide biosynthetic processGO:0009190610.032
positive regulation of catabolic processGO:00098963100.032
cellular metal ion homeostasisGO:00068751460.032
positive regulation of protein phosphorylationGO:00019343130.032
cardiac muscle contractionGO:0060048340.032
mapk cascadeGO:00001652880.031
negative regulation of cellular protein metabolic processGO:00322693530.031
regulation of cytokine productionGO:00018172320.031
negative regulation of cell deathGO:00605483450.031
immune responseGO:00069553070.031
nitrogen compound transportGO:00717051910.031
regulation of cell cycleGO:00517263930.031
response to nitrogen compoundGO:19016981840.031
response to radiationGO:00093141510.031
negative regulation of voltage gated calcium channel activityGO:190138640.030
regulation of protein transportGO:00512232130.030
regulation of mapk cascadeGO:00434082620.030
positive regulation of purine nucleotide metabolic processGO:19005442270.030
regulation of establishment of protein localizationGO:00702012420.030
hindbrain developmentGO:003090230.030
cellular macromolecule catabolic processGO:00442653800.030
regulation of cellular component biogenesisGO:00440872810.029
intracellular protein transportGO:00068862700.029
guanosine containing compound catabolic processGO:19010692390.029
sensory perceptionGO:00076001030.029
purine ribonucleotide biosynthetic processGO:0009152790.029
cyclic nucleotide metabolic processGO:0009187820.029
cell growthGO:00160491600.029
regulation of nucleotide catabolic processGO:00308112050.029
negative regulation of protein metabolic processGO:00512483910.029
defense responseGO:00069523150.029
single organism cellular localizationGO:19025803320.028
gtp catabolic processGO:00061842370.028
cytoplasmic transportGO:00164823790.028
membrane organizationGO:00610242920.028
positive regulation of cellular component movementGO:00512721810.028
gtp metabolic processGO:00460392390.028
ribose phosphate biosynthetic processGO:0046390820.028
small gtpase mediated signal transductionGO:0007264780.028
ribonucleoside monophosphate metabolic processGO:00091611870.028
regulation of cell cycle processGO:00105642660.028
nervous system developmentGO:00073992930.027
positive regulation of locomotionGO:00400171860.027
guanosine containing compound metabolic processGO:19010682440.027
peptidyl serine phosphorylationGO:00181051010.027
actin mediated cell contractionGO:0070252120.027
positive regulation of cellular catabolic processGO:00313312840.027
mitotic cell cycleGO:00002783260.026
positive regulation of cell deathGO:00109422630.026
monocarboxylic acid metabolic processGO:00327871850.026
positive regulation of cytokine productionGO:00018191670.026
negative regulation of cellular amine metabolic processGO:003323930.026
response to cytokineGO:00340972320.026
regulation of proteolysisGO:00301622930.026
positive regulation of cell motilityGO:20001471770.026
purine ribonucleoside monophosphate catabolic processGO:00091691580.025
cellular potassium ion transportGO:0071804600.025
regulation of protein kinase activityGO:00458592890.025
regulation of muscle system processGO:0090257530.025
negative regulation of secretion by cellGO:1903531520.025
protein localization to organelleGO:00333652800.025
regulation of gtp catabolic processGO:00331241800.025
regulation of intracellular transportGO:00323861950.025
mitotic cell cycle processGO:19030472860.025
negative regulation of apoptotic processGO:00430663160.025
negative regulation of cellular amino acid metabolic processGO:004576320.025
nucleotide biosynthetic processGO:00091651090.024
positive regulation of purine nucleotide catabolic processGO:00331231850.024
small molecule biosynthetic processGO:00442831570.024
cell projection organizationGO:00300302520.024
regulation of gtpase activityGO:00430871800.024
rho protein signal transductionGO:0007266260.024
purine ribonucleoside monophosphate metabolic processGO:00091671860.024
oogenesisGO:004847720.024
atp catabolic processGO:00062001570.024
nuclear transportGO:00511691790.024
chromatin organizationGO:00063253510.024
protein maturationGO:00516042330.024
positive regulation of nucleoside metabolic processGO:00459791860.024
single organism carbohydrate metabolic processGO:00447231930.024
regulation of neurotransmitter secretionGO:004692830.024
purine containing compound biosynthetic processGO:0072522880.024
atp metabolic processGO:00460341760.024
regulation of cell adhesionGO:00301551660.024
regulation of response to external stimulusGO:00321012220.024
protein catabolic processGO:00301633250.024
peptidyl serine modificationGO:00182091060.024
regulation of calcium ion transportGO:0051924790.023
protein processingGO:00164852260.023
memoryGO:000761330.023
positive regulation of nucleotide catabolic processGO:00308131850.023
cellular protein catabolic processGO:00442572610.023
positive regulation of apoptotic processGO:00430652460.023
single organism membrane organizationGO:00448022680.023
regulation of cyclic nucleotide biosynthetic processGO:0030802490.023
regulation of cell differentiationGO:00455953930.023
signal transduction by phosphorylationGO:00230142970.023
posttranscriptional regulation of gene expressionGO:00106082130.023
apoptotic signaling pathwayGO:00971902680.023
spinal cord developmentGO:002151040.023
purine nucleoside monophosphate metabolic processGO:00091261860.023
histone modificationGO:00165702510.023
regulation of cytoskeleton organizationGO:00514931770.023
reactive oxygen species biosynthetic processGO:190340940.023
positive regulation of programmed cell deathGO:00430682490.022
protein modification by small protein conjugationGO:00324463420.022
response to organonitrogen compoundGO:00102431560.022
cytosolic calcium ion homeostasisGO:0051480890.022
potassium ion transmembrane transportGO:0071805600.022
negative regulation of programmed cell deathGO:00430693210.022
single organism cell adhesionGO:00986021790.022
calcium ion homeostasisGO:00550741220.022
tissue migrationGO:00901301190.022
heart contractionGO:0060047620.022
positive regulation of gtp catabolic processGO:00331261660.022
regulation of blood circulationGO:1903522590.022
testosterone biosynthetic processGO:006137020.022
protein targetingGO:00066051870.022
regulation of growthGO:00400081650.022
proteolysis involved in cellular protein catabolic processGO:00516032440.022
cellular response to cytokine stimulusGO:00713451810.021
positive regulation of cell cycleGO:00457871400.021
positive regulation of synaptic transmissionGO:005080640.021
regulation of heart rateGO:0002027380.021
ribonucleoside monophosphate catabolic processGO:00091581580.021
regulation of kinase activityGO:00435493140.021
regulation of purine nucleotide biosynthetic processGO:1900371500.021
purine nucleotide biosynthetic processGO:0006164840.021
regulation of homeostatic processGO:00328441210.021
chromatin modificationGO:00165682980.021
regulation of transporter activityGO:0032409820.021
positive regulation of cell differentiationGO:00455972110.021
nucleocytoplasmic transportGO:00069131760.021
reactive oxygen species metabolic processGO:0072593750.021
negative regulation of hydrolase activityGO:00513461820.020
circadian behaviorGO:004851220.020
cellular response to nitrogen compoundGO:19016991440.020
segmentationGO:003528240.020
rhythmic behaviorGO:000762220.020
cellular protein complex assemblyGO:00436231880.020
response to hormoneGO:00097251750.020
organelle assemblyGO:00709251760.020
cell substrate adhesionGO:00315891320.019
neurogenesisGO:00220081690.019
glycoprotein metabolic processGO:00091001100.019
positive regulation of cell migrationGO:00303351720.019
metencephalon developmentGO:002203720.019
innate immune responseGO:00450871780.019
negative regulation of protein modification processGO:00314002000.019
regulation of heart contractionGO:0008016500.019
regulation of defense responseGO:00313471540.019
regulation of small gtpase mediated signal transductionGO:00510561560.019
sensory perception of painGO:001923340.019
protein ubiquitinationGO:00165673140.019
positive regulation of mapk cascadeGO:00434101900.019
endomembrane system organizationGO:00102561960.019
regulation of neuronal synaptic plasticityGO:004816810.019
regulation of immune responseGO:00507762010.019
regulation of ras gtpase activityGO:00323181280.019
response to lipidGO:00339932060.019
response to transforming growth factor betaGO:0071559940.019
regulation of reactive oxygen species biosynthetic processGO:190342630.018
atrial cardiac muscle tissue morphogenesisGO:005500910.018
regulation of muscle contractionGO:0006937450.018
behaviorGO:00076101120.018
positive regulation of secretion by cellGO:19035321080.018
sodium ion transportGO:0006814610.018
regulation of cell growthGO:00015581350.018
regulation of cyclic nucleotide metabolic processGO:0030799630.018
negative regulation of catabolic processGO:00098951040.018
epithelial cell migrationGO:00106311190.018
ribonucleotide biosynthetic processGO:0009260810.018
g protein coupled receptor signaling pathway coupled to cyclic nucleotide second messengerGO:0007187430.018
positive regulation of transferase activityGO:00513472270.018
regulation of ras protein signal transductionGO:00465781550.018
negative regulation of intracellular signal transductionGO:19025321830.018
cellular response to organonitrogen compoundGO:00714171240.018
regulation of cardiac muscle contractionGO:0055117330.018
blood vessel morphogenesisGO:00485141620.018
positive regulation of cellular component biogenesisGO:00440891580.018
cartilage condensationGO:000150210.018
cell cycle phase transitionGO:00447701730.018
cell aggregationGO:009874310.018
regulation of membrane potentialGO:0042391950.017
negative regulation of phosphorylationGO:00423261740.017
modification dependent macromolecule catabolic processGO:00436322120.017
sodium ion transmembrane transportGO:0035725590.017
alcohol metabolic processGO:00060661140.017
matingGO:000761810.017
positive regulation of cell proliferationGO:00082843010.017
ameboidal type cell migrationGO:00016671350.017
regulation of nucleotide biosynthetic processGO:0030808500.017
vasculature developmentGO:00019441810.017
detection of stimulusGO:0051606850.017
actin filament organizationGO:00070151280.017
growthGO:00400072020.017
cellular response to hormone stimulusGO:00328701250.017
establishment of protein localization to organelleGO:00725941720.017
associative learningGO:000830610.017
cellular response to transforming growth factor beta stimulusGO:0071560940.017
microtubule based processGO:00070172100.017
positive regulation of immune responseGO:00507781590.016
chemotaxisGO:00069351570.016
regulation of cellular response to stressGO:00801352440.016
modification dependent protein catabolic processGO:00199412090.016
negative regulation of immune system processGO:00026831360.016
opioid receptor signaling pathwayGO:003800340.016
organic hydroxy compound metabolic processGO:19016151470.016
regulation of actin cytoskeleton organizationGO:00329561160.016
dephosphorylationGO:00163112090.016
regulation of protein serine threonine kinase activityGO:00719001790.016
regulation of hormone secretionGO:0046883570.016
regulation of chemotaxisGO:0050920740.016
response to drugGO:0042493810.016
blastoderm segmentationGO:000735020.016
endothelial cell migrationGO:0043542860.016
carboxylic acid biosynthetic processGO:0046394970.016
organic anion transportGO:00157111030.016
anion transportGO:00068201610.016
regulation of protein catabolic processGO:00421761550.016
organic acid biosynthetic processGO:0016053970.016
ubiquitin dependent protein catabolic processGO:00065112060.015
positive regulation of gtpase activityGO:00435471660.015
cell divisionGO:00513011680.015
reactive nitrogen species metabolic processGO:200105730.015
regulation of cell morphogenesisGO:00226041530.015
lipid biosynthetic processGO:00086101770.015
neurotransmitter secretionGO:000726940.015
interspecies interaction between organismsGO:00444191560.015
regulation of sequence specific dna binding transcription factor activityGO:00510902110.015
regulation of peptide transportGO:0090087620.015
glial cell migrationGO:000834740.015
regenerationGO:003109940.015
response to activityGO:001482300.015
proteasomal protein catabolic processGO:00104981760.015
regulation of anatomical structure sizeGO:00900661010.015
action potentialGO:0001508340.015
response to axon injuryGO:004867810.015
peptidyl tyrosine modificationGO:00182121700.015
protein targeting to nucleusGO:00447441040.015
regulation of atrial cardiac muscle cell membrane repolarizationGO:006037240.015
spermatid differentiationGO:004851540.015
cell projection morphogenesisGO:00488581290.014
negative regulation of cellular component organizationGO:00511292350.014
response to inorganic substanceGO:00100351270.014
positive regulation of reactive oxygen species biosynthetic processGO:190342820.014
maintenance of locationGO:00512351120.014
sensory perception of light stimulusGO:0050953350.014
oxidation reduction processGO:00551143960.014
cellular response to abiotic stimulusGO:00712141170.014
calcium ion transmembrane transportGO:0070588760.014
regulation of protein secretionGO:0050708860.014
generation of neuronsGO:00486991520.014
peptidyl tyrosine phosphorylationGO:00181081700.014
lipid catabolic processGO:0016042840.014
angiogenesisGO:00015251470.014
adenylate cyclase inhibiting g protein coupled receptor signaling pathwayGO:0007193220.014
negative regulation of developmental processGO:00510932470.014
small molecule catabolic processGO:0044282920.014
positive regulation of ion transportGO:0043270870.014
regulation of apoptotic signaling pathwayGO:20012331750.014
cerebellum developmentGO:002154920.014
cell part morphogenesisGO:00329901370.014
mitotic cell cycle phase transitionGO:00447721620.014
negative regulation of cellular catabolic processGO:0031330830.014
enzyme linked receptor protein signaling pathwayGO:00071673030.014
microtubule cytoskeleton organizationGO:00002261760.014
spermatid developmentGO:000728640.014
signal releaseGO:0023061700.014
protein secretionGO:0009306980.014
multicellular organismal response to stressGO:003355510.014
neuron differentiationGO:00301821380.014
endocytosisGO:00068971590.014
negative regulation of transferase activityGO:00513481240.014
proteoglycan metabolic processGO:0006029290.014
carbohydrate metabolic processGO:00059752070.014
protein kinase c activating g protein coupled receptor signaling pathwayGO:000720520.014
positive regulation of ion transmembrane transportGO:0034767400.014
response to light stimulusGO:0009416870.013
anterior posterior axis specificationGO:000994820.013
positive regulation of secretionGO:00510471160.013
syncytium formation by plasma membrane fusionGO:000076820.013
activation of immune responseGO:00022531140.013
regulation of camp biosynthetic processGO:0030817450.013
blood vessel developmentGO:00015681720.013
taxisGO:00423301570.013
regulation of reactive oxygen species metabolic processGO:2000377410.013
central nervous system developmentGO:00074171230.013
negative regulation of cell cycleGO:00457861930.013
regulation of protein complex assemblyGO:00432541470.013
negative regulation of protein processingGO:00109551420.013
membrane hyperpolarizationGO:006008110.013
epithelium developmentGO:00604292270.013
positive regulation of protein transportGO:00512221350.013
response to biotic stimulusGO:00096072760.013
wnt signaling pathwayGO:00160551560.013
cell activationGO:00017752130.013
response to virusGO:00096151260.013
rna processingGO:00063962550.013
positive regulation of reactive oxygen species metabolic processGO:2000379240.013
positive regulation of cytosolic calcium ion concentrationGO:0007204820.013
plasma membrane organizationGO:00070091150.013
compound eye developmentGO:004874910.013
regulation of lipid metabolic processGO:0019216960.013
peptide hormone secretionGO:0030072500.013
regulation of cell substrate adhesionGO:0010810680.013
regulation of peptidase activityGO:00525471800.013
regulation of vesicle mediated transportGO:00606271300.013
cell matrix adhesionGO:0007160850.013
protein homooligomerizationGO:00512601000.013
negative regulation of ion transportGO:0043271390.013
regulation of cation channel activityGO:2001257330.013
sequestering of calcium ionGO:0051208170.013
ossificationGO:00015031210.013
regulation of meiotic cell cycleGO:005144540.013
forelimb morphogenesisGO:003513640.012
covalent chromatin modificationGO:00165692540.012
response to other organismGO:00517072610.012
symbiosis encompassing mutualism through parasitismGO:00444031560.012
regulation of protein maturationGO:19033171500.012
heart developmentGO:0007507950.012
negative regulation of growthGO:0045926970.012
head developmentGO:00603221080.012
regulation of g protein coupled receptor protein signaling pathwayGO:0008277350.012
cellular response to radiationGO:0071478650.012
positive regulation of ras gtpase activityGO:00323201170.012
regulation of protein stabilityGO:0031647870.012
negative regulation of kinase activityGO:00336731060.012

EXTL1 disease predictions

DiseaseDO term IDSizeProbabilityFunc Analog Org
musculoskeletal system diseaseDOID:172230.088
cardiovascular system diseaseDOID:12871060.044
myopathyDOID:4231040.032
muscle tissue diseaseDOID:661130.032
muscular diseaseDOID:00800001140.032
nervous system diseaseDOID:8634310.028
sensory system diseaseDOID:00501552030.028
disease of metabolismDOID:00146672950.026
eye and adnexa diseaseDOID:14921500.024
eye diseaseDOID:56141490.024
retinal diseaseDOID:56791180.024
inherited metabolic disorderDOID:6552420.022
central nervous system diseaseDOID:3311860.020
connective tissue diseaseDOID:651090.020
heart diseaseDOID:114680.017
cancerDOID:1621670.013
disease of cellular proliferationDOID:145661740.013
cardiomyopathyDOID:0050700500.013
intrinsic cardiomyopathyDOID:0060036500.013
bone diseaseDOID:0080001880.013
neurodegenerative diseaseDOID:12891020.013