Homo sapiens

30 known processes

PGAM2

phosphoglycerate mutase 2 (muscle)

(Aliases: MGC88743,PGAMM,GSD10,PGAM-M)

PGAM2 biological process predictions


Filter by process size:
Biological processGO term IDProcess sizeProbabilityFunc Analog Org
muscle contractionGO:0006936730.460
muscle system processGO:0003012810.433
system processGO:00030083490.231
blood circulationGO:00080151130.227
circulatory system processGO:00030131130.198
actin filament based movementGO:0030048170.191
cardiac muscle contractionGO:0060048340.187
striated muscle contractionGO:0006941520.185
heart contractionGO:0060047620.177
heart processGO:0003015620.138
regulation of muscle system processGO:0090257530.137
regulation of muscle contractionGO:0006937450.132
actin mediated cell contractionGO:0070252120.117
cardiac muscle cell contractionGO:008600340.111
skeletal muscle contractionGO:0003009160.099
cation transportGO:00068123310.099
inorganic ion transmembrane transportGO:00986602310.091
cation transmembrane transportGO:00986552380.090
transmembrane transportGO:00550853990.089
amine metabolic processGO:0009308440.084
inorganic cation transmembrane transportGO:00986621940.083
monocarboxylic acid metabolic processGO:00327871850.080
cellular amino acid metabolic processGO:00065201160.080
cellular ketone metabolic processGO:0042180800.077
nucleoside catabolic processGO:00091644080.075
regulation of cellular ketone metabolic processGO:0010565500.072
carbohydrate metabolic processGO:00059752070.071
cellular component morphogenesisGO:00329893140.066
ion transmembrane transportGO:00342203380.064
response to abiotic stimulusGO:00096283360.064
metal ion transportGO:00300012720.063
single organism carbohydrate metabolic processGO:00447231930.062
cellular amine metabolic processGO:0044106410.062
regulation of cellular amine metabolic processGO:0033238110.061
atrial cardiac muscle tissue morphogenesisGO:005500910.060
purine ribonucleotide catabolic processGO:00091544040.059
response to activityGO:001482300.058
nucleoside triphosphate metabolic processGO:00091414220.057
glycosyl compound catabolic processGO:19016584130.056
ribonucleoside triphosphate metabolic processGO:00091994120.056
regulation of striated muscle contractionGO:0006942370.055
musculoskeletal movementGO:0050881170.054
purine nucleoside monophosphate catabolic processGO:00091281580.053
actin filament based processGO:00300292240.052
regulation of system processGO:00440571010.051
regulation of cardiac muscle contractionGO:0055117330.051
post embryonic developmentGO:000979120.051
regulation of cellular amino acid metabolic processGO:000652160.051
purine nucleoside triphosphate catabolic processGO:00091463920.050
locomotory behaviorGO:000762610.050
nucleoside phosphate catabolic processGO:19012924120.049
biological adhesionGO:00226103310.049
purine ribonucleoside triphosphate metabolic processGO:00092054110.049
circulatory system developmentGO:00723592620.049
positive regulation of transportGO:00510503360.048
purine containing compound catabolic processGO:00725234110.047
multicellular organismal agingGO:001025930.047
purine ribonucleoside triphosphate catabolic processGO:00092073910.046
cell developmentGO:00484683280.045
nucleoside monophosphate metabolic processGO:00091231910.044
organophosphate catabolic processGO:00464344300.044
regulation of ion transportGO:00432691890.044
ribonucleoside catabolic processGO:00424544060.044
purine ribonucleoside monophosphate catabolic processGO:00091691580.044
purine nucleoside catabolic processGO:00061523980.044
positive regulation of cellular amino acid metabolic processGO:004576430.043
determination of adult lifespanGO:000834020.043
purine ribonucleoside monophosphate metabolic processGO:00091671860.042
cardiovascular system developmentGO:00723582620.042
purine ribonucleoside metabolic processGO:00461284370.042
ribonucleoside monophosphate catabolic processGO:00091581580.042
regulation of heart rateGO:0002027380.042
negative regulation of catalytic activityGO:00430863350.041
multicellular organismal movementGO:0050879170.041
positive regulation of cellular amine metabolic processGO:003324070.041
ribonucleoside monophosphate metabolic processGO:00091611870.041
heart developmentGO:0007507950.041
ion homeostasisGO:00508012300.041
cellular response to endogenous stimulusGO:00714953360.040
response to oxygen containing compoundGO:19017003690.040
heart morphogenesisGO:0003007480.040
chemical homeostasisGO:00488783060.039
neuromuscular junction developmentGO:000752830.039
negative regulation of cellular protein metabolic processGO:00322693530.039
potassium ion importGO:001010790.038
purine ribonucleoside catabolic processGO:00461303980.038
atp catabolic processGO:00062001570.037
cell adhesionGO:00071553250.037
muscle structure developmentGO:0061061980.037
Fly
cell cell signalingGO:00072671550.037
oxidation reduction processGO:00551143960.036
Human
purine nucleoside triphosphate metabolic processGO:00091444120.036
regulation of heart contractionGO:0008016500.036
purine nucleoside monophosphate metabolic processGO:00091261860.036
muscle tissue developmentGO:0060537620.035
ribonucleotide catabolic processGO:00092614050.035
ribonucleoside triphosphate catabolic processGO:00092033910.035
mitotic cell cycleGO:00002783260.034
striated muscle tissue developmentGO:0014706590.034
regulation of blood circulationGO:1903522590.034
atp metabolic processGO:00460341760.034
generation of precursor metabolites and energyGO:0006091680.033
negative regulation of protein metabolic processGO:00512483910.033
nucleotide catabolic processGO:00091664080.033
regulation of ion transmembrane transportGO:00347651320.033
matingGO:000761810.033
positive regulation of catabolic processGO:00098963100.033
nucleoside triphosphate catabolic processGO:00091433940.032
cellular macromolecular complex assemblyGO:00346223240.032
organonitrogen compound biosynthetic processGO:19015662000.032
negative regulation of phosphate metabolic processGO:00459362670.032
negative regulation of phosphorus metabolic processGO:00105632670.032
cellular chemical homeostasisGO:00550821800.031
apoptotic signaling pathwayGO:00971902680.031
nervous system developmentGO:00073992930.031
nucleoside monophosphate catabolic processGO:00091251590.030
response to organonitrogen compoundGO:00102431560.030
regulation of nucleotide metabolic processGO:00061402690.030
Human
female gamete generationGO:000729220.029
cardiac muscle tissue developmentGO:0048738390.029
cardiac muscle tissue morphogenesisGO:0055008180.029
cellular carbohydrate metabolic processGO:0044262840.029
Human
voluntary skeletal muscle contractionGO:000301010.029
regulation of metal ion transportGO:00109591200.029
response to organic cyclic compoundGO:00140702040.028
organelle assemblyGO:00709251760.028
segmentationGO:003528240.028
adult locomotory behaviorGO:000834410.028
cellular lipid metabolic processGO:00442553030.028
protein localization to organelleGO:00333652800.028
negative regulation of multicellular organismal processGO:00512413170.028
growthGO:00400072020.027
action potentialGO:0001508340.027
purine nucleotide catabolic processGO:00061954050.027
monovalent inorganic cation transportGO:00156721280.027
cellular homeostasisGO:00197251960.027
cellular ion homeostasisGO:00068731680.027
potassium ion transportGO:0006813620.027
potassium ion transmembrane transportGO:0071805600.027
regenerationGO:003109940.026
circadian behaviorGO:004851220.026
regulation of actin filament based processGO:00329701410.026
protein oligomerizationGO:00512591730.026
cardiac ventricle morphogenesisGO:0003208200.026
single organism membrane organizationGO:00448022680.026
regulation of cellular component biogenesisGO:00440872810.026
cytoplasmic transportGO:00164823790.025
dephosphorylationGO:00163112090.025
cation homeostasisGO:00550801890.025
rhythmic behaviorGO:000762220.025
muscle organ developmentGO:0007517560.025
organ morphogenesisGO:00098871470.025
regulation of synaptic plasticityGO:004816730.025
regulation of cellular component movementGO:00512703340.024
mitotic cell cycle processGO:19030472860.024
regulation of membrane potentialGO:0042391950.024
negative regulation of protein modification processGO:00314002000.024
positive regulation of cellular catabolic processGO:00313312840.024
positive regulation of nucleotide metabolic processGO:00459812300.024
cellular response to nitrogen compoundGO:19016991440.024
ventricular cardiac muscle tissue developmentGO:0003229140.024
regulation of purine nucleotide metabolic processGO:19005422640.023
sodium ion transportGO:0006814610.023
cell growthGO:00160491600.023
regulation of cell growthGO:00015581350.023
fatty acid metabolic processGO:00066311150.023
regulation of transmembrane transportGO:00347621390.023
negative regulation of cellular component organizationGO:00511292350.023
negative regulation of hydrolase activityGO:00513461820.023
regulation of cell cycleGO:00517263930.023
nerve developmentGO:002167540.023
single organism carbohydrate catabolic processGO:0044724330.023
negative regulation of cellular amine metabolic processGO:003323930.023
negative regulation of cellular amino acid metabolic processGO:004576320.023
lipid metabolic processGO:00066293810.022
cellular cation homeostasisGO:00300031630.022
spermatid differentiationGO:004851540.022
actin cytoskeleton organizationGO:00300362070.022
anatomical structure formation involved in morphogenesisGO:00486462840.022
Fly
positive regulation of hydrolase activityGO:00513453310.022
regulation of axon guidanceGO:190266730.022
vesicle mediated transportGO:00161923710.022
atrial cardiac muscle tissue developmentGO:000322810.022
muscle organ morphogenesisGO:0048644190.022
calcium ion transportGO:00068161470.021
mitochondrion organizationGO:00070051560.021
maintenance of locationGO:00512351120.021
regulation of establishment of protein localizationGO:00702012420.021
intracellular protein transportGO:00068862700.021
membrane organizationGO:00610242920.021
regulation of response to external stimulusGO:00321012220.021
negative regulation of programmed cell deathGO:00430693210.021
organophosphate biosynthetic processGO:00904071630.021
response to hypoxiaGO:0001666960.021
carboxylic acid catabolic processGO:0046395710.021
positive regulation of developmental processGO:00510943140.020
positive regulation of cell deathGO:00109422630.020
cellular response to dna damage stimulusGO:00069743790.020
regulation of purine nucleotide catabolic processGO:00331212050.020
regulation of protein localizationGO:00328802960.020
spermatid developmentGO:000728640.020
cell morphogenesisGO:00009022960.020
regulation of nucleoside metabolic processGO:00091182090.020
neurological system processGO:00508771630.020
single organism cellular localizationGO:19025803320.020
regulation of intracellular transportGO:00323861950.020
defense responseGO:00069523150.020
negative regulation of intracellular signal transductionGO:19025321830.020
cellular protein complex assemblyGO:00436231880.020
positive regulation of cellular component organizationGO:00511303760.020
cell fate determinationGO:000170930.020
mapk cascadeGO:00001652880.020
pyruvate metabolic processGO:0006090260.020
positive regulation of nucleoside metabolic processGO:00459791860.020
cellular potassium ion transportGO:0071804600.020
oogenesisGO:004847720.020
ras protein signal transductionGO:0007265730.019
metal ion homeostasisGO:00550651690.019
response to oxygen levelsGO:00704821000.019
negative regulation of transportGO:00510511760.019
regulation of cellular response to stressGO:00801352440.019
memoryGO:000761330.019
anion transportGO:00068201610.019
response to nitrogen compoundGO:19016981840.019
cellular component assembly involved in morphogenesisGO:0010927730.019
regulation of proteolysisGO:00301622930.019
associative learningGO:000830610.019
alpha amino acid metabolic processGO:1901605720.019
multicellular organismal signalingGO:0035637340.018
regulation of growthGO:00400081650.018
hexose metabolic processGO:0019318550.018
Human Yeast Rat
metencephalon developmentGO:002203720.018
cerebellum developmentGO:002154920.018
twitch skeletal muscle contractionGO:001472110.018
response to inorganic substanceGO:00100351270.018
Rat
signal transduction by phosphorylationGO:00230142970.018
response to decreased oxygen levelsGO:0036293960.018
reactive oxygen species biosynthetic processGO:190340940.018
carbohydrate catabolic processGO:0016052360.018
cellular divalent inorganic cation homeostasisGO:00725031280.018
cellular macromolecule catabolic processGO:00442653800.018
intrinsic apoptotic signaling pathwayGO:00971931270.018
syncytium formation by plasma membrane fusionGO:000076820.018
Fly
sodium ion transmembrane transportGO:0035725590.018
negative regulation of phosphorylationGO:00423261740.018
muscle cell differentiationGO:0042692630.018
Fly
protein maturationGO:00516042330.018
cell projection organizationGO:00300302520.018
multicellular organismal response to stressGO:003355510.018
small molecule catabolic processGO:0044282920.018
secretionGO:00469032540.018
receptor guanylyl cyclase signaling pathwayGO:000716850.018
positive regulation of ion transportGO:0043270870.017
regulation of secretionGO:00510461940.017
regulation of cytokine productionGO:00018172320.017
chromatin organizationGO:00063253510.017
positive regulation of synaptic transmissionGO:005080640.017
protein homooligomerizationGO:00512601000.017
enzyme linked receptor protein signaling pathwayGO:00071673030.017
response to radiationGO:00093141510.017
regulation of cell morphogenesisGO:00226041530.017
regulation of nucleotide catabolic processGO:00308112050.017
regulation of apoptotic signaling pathwayGO:20012331750.017
protein modification by small protein conjugationGO:00324463420.017
negative regulation of catabolic processGO:00098951040.017
organ formationGO:004864530.017
positive regulation of immune system processGO:00026842830.017
response to hormoneGO:00097251750.017
motor neuron axon guidanceGO:000804520.017
regulation of cell cycle processGO:00105642660.017
nucleocytoplasmic transportGO:00069131760.017
cell cycle phase transitionGO:00447701730.017
response to woundingGO:00096111680.017
membrane hyperpolarizationGO:006008110.017
myoblast fusionGO:000752010.017
Fly
cytokine productionGO:00018162470.017
positive regulation of organelle organizationGO:00106381950.017
positive regulation of programmed cell deathGO:00430682490.017
divalent metal ion transportGO:00708381520.016
response to axon injuryGO:004867810.016
regulation of anatomical structure morphogenesisGO:00226032860.016
regulation of dna metabolic processGO:00510521530.016
regulation of carbohydrate metabolic processGO:0006109540.016
Human
epithelium developmentGO:00604292270.016
negative regulation of transcription from rna polymerase ii promoterGO:00001222810.016
divalent inorganic cation transportGO:00725111580.016
protein ubiquitinationGO:00165673140.016
negative regulation of growthGO:0045926970.016
positive regulation of nucleotide catabolic processGO:00308131850.016
cardiac right ventricle morphogenesisGO:000321530.016
interspecies interaction between organismsGO:00444191560.016
positive regulation of purine nucleotide metabolic processGO:19005442270.016
establishment of protein localization to organelleGO:00725941720.016
peripheral nervous system developmentGO:000742220.016
cell part morphogenesisGO:00329901370.016
regulation of neurotransmitter secretionGO:004692830.016
lipid catabolic processGO:0016042840.016
chromatin modificationGO:00165682980.016
cellular response to oxygen containing compoundGO:19017012760.016
regulation of transferase activityGO:00513383550.016
secretion by cellGO:00329402260.016
response to drugGO:0042493810.016
regulation of kinase activityGO:00435493140.015
dna repairGO:00062811980.015
av node cell to bundle of his cell communicationGO:008606740.015
negative regulation of protein phosphorylationGO:00019331400.015
blastoderm segmentationGO:000735020.015
reactive nitrogen species metabolic processGO:200105730.015
regulation of transmembrane transporter activityGO:0022898740.015
negative regulation of muscle contractionGO:004593230.015
negative regulation of organelle organizationGO:00106391260.015
hindbrain developmentGO:003090230.015
second messenger mediated signalingGO:0019932780.015
response to biotic stimulusGO:00096072760.015
cellular response to organic cyclic compoundGO:00714071270.015
small gtpase mediated signal transductionGO:0007264780.015
protein processingGO:00164852260.015
proteolysis involved in cellular protein catabolic processGO:00516032440.015
head developmentGO:00603221080.015
negative regulation of cell cycleGO:00457861930.015
cell projection morphogenesisGO:00488581290.015
immune responseGO:00069553070.015
nitrogen compound transportGO:00717051910.015
rna processingGO:00063962550.015
pituitary gland developmentGO:002198320.015
mitotic cell cycle phase transitionGO:00447721620.015
divalent inorganic cation homeostasisGO:00725071360.015
positive regulation of apoptotic processGO:00430652460.015
negative regulation of cell deathGO:00605483450.015
nuclear transportGO:00511691790.015
cell activationGO:00017752130.014
cranial nerve developmentGO:002154540.014
cardiac chamber morphogenesisGO:0003206260.014
sensory perception of painGO:001923340.014
response to external biotic stimulusGO:00432072610.014
cardiac muscle cell action potentialGO:0086001230.014
regulation of cell differentiationGO:00455953930.014
reactive oxygen species metabolic processGO:0072593750.014
calcium ion homeostasisGO:00550741220.014
regulation of protein kinase activityGO:00458592890.014
regulation of cysteine type endopeptidase activityGO:20001161270.014
positive regulation of phosphorylationGO:00423273940.014
cardiac muscle cell action potential involved in contractionGO:0086002210.014
neurotransmitter secretionGO:000726940.014
cellular metal ion homeostasisGO:00068751460.014
protein catabolic processGO:00301633250.014
positive regulation of reactive oxygen species metabolic processGO:2000379240.014
coagulationGO:0050817780.014
protein targetingGO:00066051870.014
regulation of mitotic cell cycleGO:00073461890.014
positive regulation of cellular component biogenesisGO:00440891580.014
immune system developmentGO:00025201950.014
glycolytic processGO:0006096170.014
positive regulation of cell proliferationGO:00082843010.014
response to growth factorGO:00708482050.014
positive regulation of purine nucleotide catabolic processGO:00331231850.014
regulation of chemotaxisGO:0050920740.013
cofactor metabolic processGO:0051186870.013
Human
calcium ion transmembrane transportGO:0070588760.013
histone modificationGO:00165702510.013
regulation of reactive oxygen species biosynthetic processGO:190342630.013
negative regulation of cell proliferationGO:00082852280.013
prostate gland developmentGO:003085030.013
lipid localizationGO:00108761060.013
cellular response to growth factor stimulusGO:00713631970.013
regulation of actin filament based movementGO:1903115240.013
positive regulation of reactive oxygen species biosynthetic processGO:190342820.013
anterior posterior axis specificationGO:000994820.013
response to cytokineGO:00340972320.013
modification dependent macromolecule catabolic processGO:00436322120.013
actin filament organizationGO:00070151280.013
negative regulation of apoptotic processGO:00430663160.013
tissue regenerationGO:004224630.013
transmembrane receptor protein serine threonine kinase signaling pathwayGO:00071781250.013
negative regulation of cell growthGO:0030308830.013
regulation of cytoplasmic transportGO:19036491490.013
regulation of atpase activityGO:0043462250.013
regulation of secretion by cellGO:19035301770.013
proteasome mediated ubiquitin dependent protein catabolic processGO:00431611560.013
proteasomal protein catabolic processGO:00104981760.013
negative regulation of cellular catabolic processGO:0031330830.013
striated muscle adaptationGO:001488840.013
epithelial cell differentiationGO:00308551410.013
glucose metabolic processGO:0006006450.013
Human Yeast Rat
organic acid catabolic processGO:0016054710.013
regulation of protein serine threonine kinase activityGO:00719001790.013
inner ear morphogenesisGO:004247240.013
regulation of locomotionGO:00400123290.013
cellular response to cytokine stimulusGO:00713451810.013
carboxylic acid biosynthetic processGO:0046394970.013
rho protein signal transductionGO:0007266260.013
tissue morphogenesisGO:0048729960.013
regulation of cell adhesionGO:00301551660.013
symbiosis encompassing mutualism through parasitismGO:00444031560.013
carbohydrate derivative biosynthetic processGO:19011372070.013
regulation of protein complex assemblyGO:00432541470.012
neurogenesisGO:00220081690.012
lipid transportGO:0006869900.012
carbohydrate biosynthetic processGO:0016051420.012
Yeast Rat
myosin filament assemblyGO:003103420.012
cellular response to organonitrogen compoundGO:00714171240.012
regulation of endopeptidase activityGO:00525481700.012
response to light stimulusGO:0009416870.012
regulation of atrial cardiac muscle cell membrane repolarizationGO:006037240.012
striated muscle cell differentiationGO:0051146430.012
Fly
membrane repolarizationGO:0086009230.012
regulation of glial cell proliferationGO:006025140.012
multi organism cellular processGO:00447641560.012
regulation of ion transmembrane transporter activityGO:0032412720.012
negative regulation of cytosolic calcium ion concentrationGO:005148110.012
cell divisionGO:00513011680.012
peptidyl serine modificationGO:00182091060.012
response to metal ionGO:0010038840.012
Rat
regulation of peptidase activityGO:00525471800.012
peptide hormone secretionGO:0030072500.012
monosaccharide metabolic processGO:0005996740.012
Human Yeast Rat
organic acid biosynthetic processGO:0016053970.012
endocytosisGO:00068971590.012
positive regulation of cell cycleGO:00457871400.012
regulation of small gtpase mediated signal transductionGO:00510561560.012
circadian sleep wake cycleGO:004274520.012
regulation of cysteine type endopeptidase activity involved in apoptotic processGO:00432811160.012
neuron developmentGO:00486661130.012
regulation of atp catabolic processGO:1903289250.012
circadian sleep wake cycle sleepGO:005080220.012
positive regulation of cellular component movementGO:00512721810.012
positive regulation of protein phosphorylationGO:00019343130.012
organelle fissionGO:00482851490.012
negative regulation of transferase activityGO:00513481240.012
oocyte differentiationGO:000999420.012
response to extracellular stimulusGO:0009991850.012
regulation of cell motilityGO:20001452990.012
striated muscle myosin thick filament assemblyGO:007168820.012
response to purine containing compoundGO:0014074400.012
cell morphogenesis involved in differentiationGO:00009041440.012
negative regulation of protein maturationGO:19033181420.012
detection of mechanical stimulusGO:005098240.012
regulation of intracellular protein transportGO:00331571230.012
sleepGO:003043120.011
single organismal cell cell adhesionGO:00163371480.011
regulation of meiotic cell cycleGO:005144540.011
positive regulation of secretion by cellGO:19035321080.011
regulation of protein transportGO:00512232130.011
erk1 and erk2 cascadeGO:00703711040.011
muscle tissue morphogenesisGO:0060415190.011
negative regulation of kinase activityGO:00336731060.011
regulation of cell developmentGO:00602841610.011
microtubule based processGO:00070172100.011
regulation of reactive oxygen species metabolic processGO:2000377410.011
positive regulation of protein transportGO:00512221350.011
protein tetramerizationGO:0051262470.011
midbrain developmentGO:0030901450.011
ventricular cardiac muscle tissue morphogenesisGO:0055010140.011
positive regulation of axon extensionGO:004577340.011
small molecule biosynthetic processGO:00442831570.011
posttranscriptional regulation of gene expressionGO:00106082130.011
positive regulation of secretionGO:00510471160.011
glial cell migrationGO:000834740.011
regulation of neuronal synaptic plasticityGO:004816810.011
covalent chromatin modificationGO:00165692540.011
compound eye developmentGO:004874910.011
alcohol metabolic processGO:00060661140.011
regulation of mapk cascadeGO:00434082620.011
cardiac conductionGO:0061337230.011
sequestering of metal ionGO:0051238240.011
tripartite regional subdivisionGO:000735120.011
embryonic epithelial tube formationGO:000183840.011

PGAM2 disease predictions

DiseaseDO term IDSizeProbabilityFunc Analog Org
musculoskeletal system diseaseDOID:172230.445
muscular diseaseDOID:00800001140.238
muscle tissue diseaseDOID:661130.238
myopathyDOID:4231040.088
disease of metabolismDOID:00146672950.063
cardiovascular system diseaseDOID:12871060.040
inherited metabolic disorderDOID:6552420.037
intrinsic cardiomyopathyDOID:0060036500.035
heart diseaseDOID:114680.035
cardiomyopathyDOID:0050700500.035
nervous system diseaseDOID:8634310.035
sensory system diseaseDOID:00501552030.035
central nervous system diseaseDOID:3311860.028
muscular dystrophyDOID:9884510.027
eye and adnexa diseaseDOID:14921500.024
neurodegenerative diseaseDOID:12891020.017
retinal diseaseDOID:56791180.017
eye diseaseDOID:56141490.017
immune system diseaseDOID:29141550.014
disease of cellular proliferationDOID:145661740.013
cancerDOID:1621670.013
organ system cancerDOID:00506861640.013
distal arthrogryposisDOID:005064690.013
acquired metabolic diseaseDOID:0060158580.012
retinal degenerationDOID:8466890.012
dilated cardiomyopathyDOID:12930320.011