Human Phenotype Ontology 
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Slowly progressive (HP:0003677)help
Term ID: 3677
Name: Slowly progressive
Synonym: Signs and symptoms worsen slowly with time; Slow disease progression; Slow progression; Slowly progressive disorder
Definition: Applies to a disease manifestation that only slowly increases in scope or severity over the course of time.
Comments:
Reference: HP:0003677
Genes and Diseases:
 
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..expandNonprogressive (HP:0003680) help
..expandProgressive (HP:0003676) help
..expandRapidly progressive (HP:0003678) help
..expandVariable progression rate (HP:0003682) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003677HP:0003677Slowly progressive0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM138915868613599
HP:0003677HP:0003677Slowly progressive0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM131415868613599
HP:0003677HP:0003677Slowly progressive0ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1362129102610
HP:0003677HP:0003677Slowly progressive0ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1325129102610
HP:0003677HP:0003677Slowly progressive0ACTN4 CL E G H81603278Focal segmental glomerulosclerosis 1603278C0333497OMIM1191166604638
HP:0003677HP:0003677Slowly progressive0ACTN4 CL E G H81603278Focal segmental glomerulosclerosis 1603278C0333497OMIM1169166604638
HP:0003677HP:0003677Slowly progressive0ADSSL1 CL E G H122622617030Myopathy, distal, 5617030C4310754OMIM120093612498
HP:0003677HP:0003677Slowly progressive0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1357315604581
HP:0003677HP:0003677Slowly progressive0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1349315604581
HP:0003677HP:0003677Slowly progressive0ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM13469722138250
HP:0003677HP:0003677Slowly progressive0ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM13929722138250
HP:0003677HP:0003677Slowly progressive0ALG14 CL E G H199857616227Myasthenic syndrome, congenital, 15616227C4015596OMIM19728287612866
HP:0003677HP:0003677Slowly progressive0ALG14 CL E G H199857616227Myasthenic syndrome, congenital, 15616227C4015596OMIM17628287612866
HP:0003677HP:0003677Slowly progressive0ALG2 CL E G H85365616228Myasthenic syndrome, congenital, 14616228C4015597OMIM124123159607905
HP:0003677HP:0003677Slowly progressive0ALG2 CL E G H85365616228Myasthenic syndrome, congenital, 14616228C4015597OMIM119323159607905
HP:0003677HP:0003677Slowly progressive0ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1644443606352
HP:0003677HP:0003677Slowly progressive0ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1524443606352
HP:0003677HP:0003677Slowly progressive0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1644443606352
HP:0003677HP:0003677Slowly progressive0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1524443606352
HP:0003677HP:0003677Slowly progressive0ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1644443606352
HP:0003677HP:0003677Slowly progressive0ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1524443606352
HP:0003677HP:0003677Slowly progressive0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0003677HP:0003677Slowly progressive0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0003677HP:0003677Slowly progressive0AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1525644313700
HP:0003677HP:0003677Slowly progressive0AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1479644313700
HP:0003677HP:0003677Slowly progressive0ATP1A1 CL E G H476618036CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD618036CN248781OMIM1131799182310
HP:0003677HP:0003677Slowly progressive0ATP1A1 CL E G H476618036CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD618036CN248781OMIM186799182310
HP:0003677HP:0003677Slowly progressive0ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM128618305300556
HP:0003677HP:0003677Slowly progressive0ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM126318305300556
HP:0003677HP:0003677Slowly progressive0ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM11003869300011
HP:0003677HP:0003677Slowly progressive0ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM1897869300011
HP:0003677HP:0003677Slowly progressive0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11694117601873
HP:0003677HP:0003677Slowly progressive0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11484117601873
HP:0003677HP:0003677Slowly progressive0BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM137315832606158
HP:0003677HP:0003677Slowly progressive0BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM133015832606158
HP:0003677HP:0003677Slowly progressive0BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM137315832606158
HP:0003677HP:0003677Slowly progressive0BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM133015832606158
HP:0003677HP:0003677Slowly progressive0C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM124825443614297
HP:0003677HP:0003677Slowly progressive0C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM124025443614297
HP:0003677HP:0003677Slowly progressive0CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM13571394604065
HP:0003677HP:0003677Slowly progressive0CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM13741394604065
HP:0003677HP:0003677Slowly progressive0CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM125819967611204
HP:0003677HP:0003677Slowly progressive0CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM126519967611204
HP:0003677HP:0003677Slowly progressive0CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11391875601443
HP:0003677HP:0003677Slowly progressive0CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11281875601443
HP:0003677HP:0003677Slowly progressive0CHCHD10 CL E G H400916616209Myopathy, isolated mitochondrial, autosomal dominant616209C4015513OMIM123015559615903
HP:0003677HP:0003677Slowly progressive0CHCHD10 CL E G H400916616209Myopathy, isolated mitochondrial, autosomal dominant616209C4015513OMIM120515559615903
HP:0003677HP:0003677Slowly progressive0CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM120515559615903
HP:0003677HP:0003677Slowly progressive0CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM123015559615903
HP:0003677HP:0003677Slowly progressive0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13821938612395
HP:0003677HP:0003677Slowly progressive0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13351938612395
HP:0003677HP:0003677Slowly progressive0CLCN5 CL E G H1184308990Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis308990C1839874OMIM14222023300008
HP:0003677HP:0003677Slowly progressive0CLCN5 CL E G H1184308990Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis308990C1839874OMIM13992023300008
HP:0003677HP:0003677Slowly progressive0CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM14832079607837
HP:0003677HP:0003677Slowly progressive0CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM14312079607837
HP:0003677HP:0003677Slowly progressive0COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM113422211120220
HP:0003677HP:0003677Slowly progressive0COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM112192211120220
HP:0003677HP:0003677Slowly progressive0COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM115122212120240
HP:0003677HP:0003677Slowly progressive0COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM113702212120240
HP:0003677HP:0003677Slowly progressive0COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM122332213120250
HP:0003677HP:0003677Slowly progressive0COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM119712213120250
HP:0003677HP:0003677Slowly progressive0COX6A1 CL E G H1337616039Charcot-Marie-Tooth disease, recessive intermediate d616039C4015029OMIM1612277602072
HP:0003677HP:0003677Slowly progressive0COX6A1 CL E G H1337616039Charcot-Marie-Tooth disease, recessive intermediate d616039C4015029OMIM1322277602072
HP:0003677HP:0003677Slowly progressive0CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM111618540608846
HP:0003677HP:0003677Slowly progressive0CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM19918540608846
HP:0003677HP:0003677Slowly progressive0CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM12022389123590
HP:0003677HP:0003677Slowly progressive0CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM11752389123590
HP:0003677HP:0003677Slowly progressive0CWF19L1 CL E G H55280616127Spinocerebellar ataxia, autosomal recessive 17616127C4015301OMIM15925613616120
HP:0003677HP:0003677Slowly progressive0DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM1812661603448
HP:0003677HP:0003677Slowly progressive0DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM1802661603448
HP:0003677HP:0003677Slowly progressive0DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM126625538610956
HP:0003677HP:0003677Slowly progressive0DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM123625538610956
HP:0003677HP:0003677Slowly progressive0DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM16932711601143
HP:0003677HP:0003677Slowly progressive0DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM15652711601143
HP:0003677HP:0003677Slowly progressive0DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM128019714614603
HP:0003677HP:0003677Slowly progressive0DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM122619714614603
HP:0003677HP:0003677Slowly progressive0DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM12902939601810
HP:0003677HP:0003677Slowly progressive0DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM12232939601810
HP:0003677HP:0003677Slowly progressive0DNAJB2 CL E G H3300614881Spinal muscular atrophy, distal, autosomal recessive, 5614881C3553989OMIM11905228604139
HP:0003677HP:0003677Slowly progressive0DNAJB2 CL E G H3300614881Spinal muscular atrophy, distal, autosomal recessive, 5614881C3553989OMIM12175228604139
HP:0003677HP:0003677Slowly progressive0DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM138314888611332
HP:0003677HP:0003677Slowly progressive0DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM134614888611332
HP:0003677HP:0003677Slowly progressive0DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM121515469608375
HP:0003677HP:0003677Slowly progressive0DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM117315469608375
HP:0003677HP:0003677Slowly progressive0DNM1L CL E G H10059610708Optic atrophy 5610708C1853139OMIM13322973603850
HP:0003677HP:0003677Slowly progressive0DNM1L CL E G H10059610708Optic atrophy 5610708C1853139OMIM12632973603850
HP:0003677HP:0003677Slowly progressive0DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM17662974602378
HP:0003677HP:0003677Slowly progressive0DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM16752974602378
HP:0003677HP:0003677Slowly progressive0DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM11992995191350
HP:0003677HP:0003677Slowly progressive0DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM12332995191350
HP:0003677HP:0003677Slowly progressive0DYNC1H1 CL E G H1778614228Charcot-Marie-Tooth disease, axonal, type 2O614228C3280220OMIM123852961600112
HP:0003677HP:0003677Slowly progressive0DYNC1H1 CL E G H1778614228Charcot-Marie-Tooth disease, axonal, type 2O614228C3280220OMIM120232961600112
HP:0003677HP:0003677Slowly progressive0DYNC1H1 CL E G H1778158600Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant158600C1834690OMIM123852961600112
HP:0003677HP:0003677Slowly progressive0DYNC1H1 CL E G H1778158600Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant158600C1834690OMIM120232961600112
HP:0003677HP:0003677Slowly progressive0DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM123583097603009
HP:0003677HP:0003677Slowly progressive0DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM121293097603009
HP:0003677HP:0003677Slowly progressive0DZIP1L CL E G H199221617610POLYCYSTIC KIDNEY DISEASE 5617610C4539903OMIM16126551617570
HP:0003677HP:0003677Slowly progressive0DZIP1L CL E G H199221617610POLYCYSTIC KIDNEY DISEASE 5617610C4539903OMIM17526551617570
HP:0003677HP:0003677Slowly progressive0EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM11743214130610
HP:0003677HP:0003677Slowly progressive0EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM11703214130610
HP:0003677HP:0003677Slowly progressive0ELOVL5 CL E G H60481615957Spinocerebellar ataxia 38615957C4014812OMIM14921308611805
HP:0003677HP:0003677Slowly progressive0ELOVL5 CL E G H60481615957Spinocerebellar ataxia 38615957C4014812OMIM15221308611805
HP:0003677HP:0003677Slowly progressive0EMD CL E G H2010310300Emery-Dreifuss muscular dystrophy 1, X-linked310300C0751337OMIM15793331300384
HP:0003677HP:0003677Slowly progressive0EMD CL E G H2010310300Emery-Dreifuss muscular dystrophy 1, X-linked310300C0751337OMIM15303331300384
HP:0003677HP:0003677Slowly progressive0ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11471356611605
HP:0003677HP:0003677Slowly progressive0ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11381356611605
HP:0003677HP:0003677Slowly progressive0FARS2 CL E G H10667617046Spastic paraplegia 77, autosomal recessive617046C4310750OMIM136121062611592
HP:0003677HP:0003677Slowly progressive0FARS2 CL E G H10667617046Spastic paraplegia 77, autosomal recessive617046C4310750OMIM142921062611592
HP:0003677HP:0003677Slowly progressive0FAT2 CL E G H2196617769SPINOCEREBELLAR ATAXIA 45617769C4540400OMIM11743596604269
HP:0003677HP:0003677Slowly progressive0FAT2 CL E G H2196617769SPINOCEREBELLAR ATAXIA 45617769C4540400OMIM11693596604269
HP:0003677HP:0003677Slowly progressive0FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM131928844608533
HP:0003677HP:0003677Slowly progressive0FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM137228844608533
HP:0003677HP:0003677Slowly progressive0FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM118313586605648
HP:0003677HP:0003677Slowly progressive0FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM116113586605648
HP:0003677HP:0003677Slowly progressive0FGF14 CL E G H2259609307Spinocerebellar ataxia 27609307C1836383OMIM11903671601515
HP:0003677HP:0003677Slowly progressive0FGF14 CL E G H2259609307Spinocerebellar ataxia 27609307C1836383OMIM11873671601515
HP:0003677HP:0003677Slowly progressive0FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM128343756102565
HP:0003677HP:0003677Slowly progressive0FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM123763756102565
HP:0003677HP:0003677Slowly progressive0FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM128343756102565
HP:0003677HP:0003677Slowly progressive0FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM123763756102565
HP:0003677HP:0003677Slowly progressive0FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM139124682609144
HP:0003677HP:0003677Slowly progressive0FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM132624682609144
HP:0003677HP:0003677Slowly progressive0FN1 CL E G H2335601894Glomerulopathy with fibronectin deposits 2601894C1866075OMIM16093778135600
HP:0003677HP:0003677Slowly progressive0FN1 CL E G H2335601894Glomerulopathy with fibronectin deposits 2601894C1866075OMIM14733778135600
HP:0003677HP:0003677Slowly progressive0FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11233954601278
HP:0003677HP:0003677Slowly progressive0FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11213954601278
HP:0003677HP:0003677Slowly progressive0FZD4 CL E G H8322133780Exudative vitreoretinopathy 1133780C1851402OMIM13214042604579
HP:0003677HP:0003677Slowly progressive0FZD4 CL E G H8322133780Exudative vitreoretinopathy 1133780C1851402OMIM12664042604579
HP:0003677HP:0003677Slowly progressive0GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM15944137605379
HP:0003677HP:0003677Slowly progressive0GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM15334137605379
HP:0003677HP:0003677Slowly progressive0GARS CL E G H2617601472Charcot-Marie-Tooth disease type 2D601472C1832274OMIM14162600287
HP:0003677HP:0003677Slowly progressive0GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0003677HP:0003677Slowly progressive0GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM124618986609471
HP:0003677HP:0003677Slowly progressive0GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM126218986609471
HP:0003677HP:0003677Slowly progressive0GBE1 CL E G H2632263570Polyglucosan body disease, adult263570C1849722OMIM15054180607839
HP:0003677HP:0003677Slowly progressive0GBE1 CL E G H2632263570Polyglucosan body disease, adult263570C1849722OMIM14224180607839
HP:0003677HP:0003677Slowly progressive0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17714283304040
HP:0003677HP:0003677Slowly progressive0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17324283304040
HP:0003677HP:0003677Slowly progressive0GNB4 CL E G H59345615185Charcot-Marie-Tooth disease, dominant intermediate F615185C3554654OMIM116920731610863
HP:0003677HP:0003677Slowly progressive0GNB4 CL E G H59345615185Charcot-Marie-Tooth disease, dominant intermediate F615185C3554654OMIM118820731610863
HP:0003677HP:0003677Slowly progressive0GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM11934593604473
HP:0003677HP:0003677Slowly progressive0GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM11864593604473
HP:0003677HP:0003677Slowly progressive0GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM11934593604473
HP:0003677HP:0003677Slowly progressive0GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM11864593604473
HP:0003677HP:0003677Slowly progressive0GYG1 CL E G H2992616199Polyglucosan body myopathy 2616199C4015452OMIM11684699603942
HP:0003677HP:0003677Slowly progressive0GYG1 CL E G H2992616199Polyglucosan body myopathy 2616199C4015452OMIM11134699603942
HP:0003677HP:0003677Slowly progressive0HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM123126361611642
HP:0003677HP:0003677Slowly progressive0HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM120626361611642
HP:0003677HP:0003677Slowly progressive0HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM12045037607137
HP:0003677HP:0003677Slowly progressive0HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM11585037607137
HP:0003677HP:0003677Slowly progressive0HPCA CL E G H3208224500Dystonia 2, torsion, autosomal recessive224500C1857093OMIM1275144142622
HP:0003677HP:0003677Slowly progressive0HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM12995246602195
HP:0003677HP:0003677Slowly progressive0HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM12725246602195
HP:0003677HP:0003677Slowly progressive0HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1655248604624
HP:0003677HP:0003677Slowly progressive0HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1625248604624
HP:0003677HP:0003677Slowly progressive0IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM114027302615316
HP:0003677HP:0003677Slowly progressive0IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM116127302615316
HP:0003677HP:0003677Slowly progressive0IGHMBP2 CL E G H3508616155Charcot-Marie-Tooth disease, axonal, type 2S616155C4015349OMIM19105542600502
HP:0003677HP:0003677Slowly progressive0IGHMBP2 CL E G H3508616155Charcot-Marie-Tooth disease, axonal, type 2S616155C4015349OMIM18405542600502
HP:0003677HP:0003677Slowly progressive0ISPD CL E G H729920616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7616052C4015095OMIM154937276614631
HP:0003677HP:0003677Slowly progressive0ISPD CL E G H729920616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7616052C4015095OMIM154537276614631
HP:0003677HP:0003677Slowly progressive0ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM19696180147265
HP:0003677HP:0003677Slowly progressive0ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM18956180147265
HP:0003677HP:0003677Slowly progressive0KBTBD13 CL E G H390594609273Nemaline myopathy 6609273C1836472OMIM138837227613727
HP:0003677HP:0003677Slowly progressive0KBTBD13 CL E G H390594609273Nemaline myopathy 6609273C1836472OMIM131637227613727
HP:0003677HP:0003677Slowly progressive0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM11666235176264
HP:0003677HP:0003677Slowly progressive0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM11266235176264
HP:0003677HP:0003677Slowly progressive0KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM12666239605411
HP:0003677HP:0003677Slowly progressive0KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM12336239605411
HP:0003677HP:0003677Slowly progressive0KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM11735888601255
HP:0003677HP:0003677Slowly progressive0KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM11441888601255
HP:0003677HP:0003677Slowly progressive0KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM11735888601255
HP:0003677HP:0003677Slowly progressive0KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM11441888601255
HP:0003677HP:0003677Slowly progressive0KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM187116636605995
HP:0003677HP:0003677Slowly progressive0KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM174216636605995
HP:0003677HP:0003677Slowly progressive0KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM17826576605739
HP:0003677HP:0003677Slowly progressive0KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM17926576605739
HP:0003677HP:0003677Slowly progressive0LAMA2 CL E G H3908618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23618138OMIM127396482156225
HP:0003677HP:0003677Slowly progressive0LAMA2 CL E G H3908618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23618138OMIM123276482156225
HP:0003677HP:0003677Slowly progressive0LMNA CL E G H4000181350Benign scapuloperoneal muscular dystrophy with cardiomyopathy181350C0410190OMIM114866636150330
HP:0003677HP:0003677Slowly progressive0LMNA CL E G H4000181350Benign scapuloperoneal muscular dystrophy with cardiomyopathy181350C0410190OMIM113476636150330
HP:0003677HP:0003677Slowly progressive0LRP5 CL E G H4041133780Exudative vitreoretinopathy 1133780C1851402OMIM111276697603506
HP:0003677HP:0003677Slowly progressive0LRP5 CL E G H4041133780Exudative vitreoretinopathy 1133780C1851402OMIM18616697603506
HP:0003677HP:0003677Slowly progressive0LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM162725135610933
HP:0003677HP:0003677Slowly progressive0LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM156325135610933
HP:0003677HP:0003677Slowly progressive0MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM11106783159460
HP:0003677HP:0003677Slowly progressive0MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM11466783159460
HP:0003677HP:0003677Slowly progressive0MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM17617797609479
HP:0003677HP:0003677Slowly progressive0MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM116217797609479
HP:0003677HP:0003677Slowly progressive0MARS CL E G H4141616280Charcot-Marie-Tooth disease, axonal, type 2u616280C4084821OMIM16898156560
HP:0003677HP:0003677Slowly progressive0MCM2 CL E G H4171616968Deafness, autosomal dominant 70616968C4310775OMIM11246944116945
HP:0003677HP:0003677Slowly progressive0MCM2 CL E G H4171616968Deafness, autosomal dominant 70616968C4310775OMIM1936944116945
HP:0003677HP:0003677Slowly progressive0MCM3AP CL E G H8888618124PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT618124CN253838OMIM12126946603294
HP:0003677HP:0003677Slowly progressive0MCM3AP CL E G H8888618124PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT618124CN253838OMIM15006946603294
HP:0003677HP:0003677Slowly progressive0MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM116846990300005
HP:0003677HP:0003677Slowly progressive0MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM116036990300005
HP:0003677HP:0003677Slowly progressive0MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM194416877608507
HP:0003677HP:0003677Slowly progressive0MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM182416877608507
HP:0003677HP:0003677Slowly progressive0MME CL E G H4311617017Charcot-Marie-Tooth disease, axonal, type 2T617017C4015635OMIM13427154120520
HP:0003677HP:0003677Slowly progressive0MME CL E G H4311617017Charcot-Marie-Tooth disease, axonal, type 2T617017C4015635OMIM11967154120520
HP:0003677HP:0003677Slowly progressive0MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM13427154120520
HP:0003677HP:0003677Slowly progressive0MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM11967154120520
HP:0003677HP:0003677Slowly progressive0MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM142523573616661
HP:0003677HP:0003677Slowly progressive0MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM147923573616661
HP:0003677HP:0003677Slowly progressive0MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM15227225159440
HP:0003677HP:0003677Slowly progressive0MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM14937225159440
HP:0003677HP:0003677Slowly progressive0MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM15227225159440
HP:0003677HP:0003677Slowly progressive0MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM14937225159440
HP:0003677HP:0003677Slowly progressive0MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM118025532613669
HP:0003677HP:0003677Slowly progressive0MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM114525532613669
HP:0003677HP:0003677Slowly progressive0MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM132927577160760
HP:0003677HP:0003677Slowly progressive0MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM129607577160760
HP:0003677HP:0003677Slowly progressive0MYH7 CL E G H4625255160Myopathy, myosin storage, autosomal recessive255160C1850709OMIM132927577160760
HP:0003677HP:0003677Slowly progressive0MYH7 CL E G H4625255160Myopathy, myosin storage, autosomal recessive255160C1850709OMIM129607577160760
HP:0003677HP:0003677Slowly progressive0MYH7 CL E G H4625608358Myosin storage myopathy608358C1842160OMIM132927577160760
HP:0003677HP:0003677Slowly progressive0MYH7 CL E G H4625608358Myosin storage myopathy608358C1842160OMIM129607577160760
HP:0003677HP:0003677Slowly progressive0MYH7 CL E G H4625181430Scapuloperoneal myopathy, MYH7-related181430CN074265OMIM132927577160760
HP:0003677HP:0003677Slowly progressive0MYH7 CL E G H4625181430Scapuloperoneal myopathy, MYH7-related181430CN074265OMIM129607577160760
HP:0003677HP:0003677Slowly progressive0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM17733778615345
HP:0003677HP:0003677Slowly progressive0MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM126712399604103
HP:0003677HP:0003677Slowly progressive0MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM124612399604103
HP:0003677HP:0003677Slowly progressive0MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM126712399604103
HP:0003677HP:0003677Slowly progressive0MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM124612399604103
HP:0003677HP:0003677Slowly progressive0MYPN CL E G H84665617336Nemaline myopathy 11, autosomal recessive617336C4479186OMIM1103323246608517
HP:0003677HP:0003677Slowly progressive0MYPN CL E G H84665617336Nemaline myopathy 11, autosomal recessive617336C4479186OMIM188723246608517
HP:0003677HP:0003677Slowly progressive0NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11817194609435
HP:0003677HP:0003677Slowly progressive0NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11917194609435
HP:0003677HP:0003677Slowly progressive0NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM14387739162280
HP:0003677HP:0003677Slowly progressive0NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM14897739162280
HP:0003677HP:0003677Slowly progressive0NLRP3 CL E G H114548617772DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION617772C4521680OMIM167616400606416
HP:0003677HP:0003677Slowly progressive0NLRP3 CL E G H114548617772DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION617772C4521680OMIM160516400606416
HP:0003677HP:0003677Slowly progressive0NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1417869605235
HP:0003677HP:0003677Slowly progressive0NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1427869605235
HP:0003677HP:0003677Slowly progressive0ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM116225896610277
HP:0003677HP:0003677Slowly progressive0ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM122825896610277
HP:0003677HP:0003677Slowly progressive0PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM133115894606157
HP:0003677HP:0003677Slowly progressive0PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM126315894606157
HP:0003677HP:0003677Slowly progressive0PARK7 CL E G H11315606324Parkinson disease 7606324C1853445OMIM115216369602533
HP:0003677HP:0003677Slowly progressive0PARK7 CL E G H11315606324Parkinson disease 7606324C1853445OMIM113916369602533
HP:0003677HP:0003677Slowly progressive0PDE8B CL E G H8622609161Striatal degeneration, autosomal dominant 1609161C4310808OMIM11558794603390
HP:0003677HP:0003677Slowly progressive0PDE8B CL E G H8622609161Striatal degeneration, autosomal dominant 1609161C4310808OMIM11398794603390
HP:0003677HP:0003677Slowly progressive0PDK3 CL E G H5165300905Charcot-Marie-Tooth disease, X-linked dominant, 6300905C3806702OMIM12848811300906
HP:0003677HP:0003677Slowly progressive0PDK3 CL E G H5165300905Charcot-Marie-Tooth disease, X-linked dominant, 6300905C3806702OMIM12618811300906
HP:0003677HP:0003677Slowly progressive0PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM11598820131340
HP:0003677HP:0003677Slowly progressive0PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM11448820131340
HP:0003677HP:0003677Slowly progressive0PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM15788851602859
HP:0003677HP:0003677Slowly progressive0PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM14808851602859
HP:0003677HP:0003677Slowly progressive0PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM12549717170993
HP:0003677HP:0003677Slowly progressive0PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM13199717170993
HP:0003677HP:0003677Slowly progressive0PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM127114581608309
HP:0003677HP:0003677Slowly progressive0PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM123314581608309
HP:0003677HP:0003677Slowly progressive0PLD3 CL E G H23646617770SPINOCEREBELLAR ATAXIA 46617770C4540404OMIM11917158615698
HP:0003677HP:0003677Slowly progressive0PLD3 CL E G H23646617770SPINOCEREBELLAR ATAXIA 46617770C4540404OMIM12017158615698
HP:0003677HP:0003677Slowly progressive0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13659086300401
HP:0003677HP:0003677Slowly progressive0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13359086300401
HP:0003677HP:0003677Slowly progressive0PMP2 CL E G H5375618279618279618279OMIM1689117170715
HP:0003677HP:0003677Slowly progressive0PMP2 CL E G H5375618279618279618279OMIM1489117170715
HP:0003677HP:0003677Slowly progressive0PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14199118601097
HP:0003677HP:0003677Slowly progressive0PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM13909118601097
HP:0003677HP:0003677Slowly progressive0PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14199118601097
HP:0003677HP:0003677Slowly progressive0PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM13909118601097
HP:0003677HP:0003677Slowly progressive0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM139130802609059
HP:0003677HP:0003677Slowly progressive0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM133430802609059
HP:0003677HP:0003677Slowly progressive0POGLUT1 CL E G H56983617232Muscular dystrophy, limb-girdle, type 2z617232C4310660OMIM18922954615618
HP:0003677HP:0003677Slowly progressive0POGLUT1 CL E G H56983617232Muscular dystrophy, limb-girdle, type 2z617232C4310660OMIM18122954615618
HP:0003677HP:0003677Slowly progressive0POMT1 CL E G H10585609308Limb-girdle muscular dystrophy-dystroglycanopathy, type C1609308C1836373OMIM16869202607423
HP:0003677HP:0003677Slowly progressive0POMT1 CL E G H10585609308Limb-girdle muscular dystrophy-dystroglycanopathy, type C1609308C1836373OMIM16099202607423
HP:0003677HP:0003677Slowly progressive0PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM12719402176980
HP:0003677HP:0003677Slowly progressive0PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM12619402176980
HP:0003677HP:0003677Slowly progressive0PRX CL E G H57716614895Charcot-Marie-Tooth disease, demyelinating, type 4f614895C3540453OMIM197213797605725
HP:0003677HP:0003677Slowly progressive0PRX CL E G H57716614895Charcot-Marie-Tooth disease, demyelinating, type 4f614895C3540453OMIM186113797605725
HP:0003677HP:0003677Slowly progressive0PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM122926162617220
HP:0003677HP:0003677Slowly progressive0PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM131826162617220
HP:0003677HP:0003677Slowly progressive0REEP2 CL E G H51308615625Spastic paraplegia 72, autosomal recessive615625C3810160OMIM16717975609347
HP:0003677HP:0003677Slowly progressive0REEP2 CL E G H51308615625Spastic paraplegia 72, autosomal recessive615625C3810160OMIM15917975609347
HP:0003677HP:0003677Slowly progressive0RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM141625964613114
HP:0003677HP:0003677Slowly progressive0RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM136825964613114
HP:0003677HP:0003677Slowly progressive0RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM112321686612944
HP:0003677HP:0003677Slowly progressive0RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM111521686612944
HP:0003677HP:0003677Slowly progressive0RYR1 CL E G H6261117000117000117000OMIM1460410483180901
HP:0003677HP:0003677Slowly progressive0RYR1 CL E G H6261117000117000117000OMIM1410110483180901
HP:0003677HP:0003677Slowly progressive0SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1170810597603415
HP:0003677HP:0003677Slowly progressive0SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1143810597603415
HP:0003677HP:0003677Slowly progressive0SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11087445608465
HP:0003677HP:0003677Slowly progressive0SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM1941445608465
HP:0003677HP:0003677Slowly progressive0SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM11798157601978
HP:0003677HP:0003677Slowly progressive0SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM11618157601978
HP:0003677HP:0003677Slowly progressive0SLC25A4 CL E G H291615418Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive615418C3809443OMIM125410990103220
HP:0003677HP:0003677Slowly progressive0SLC25A4 CL E G H291615418Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive615418C3809443OMIM126110990103220
HP:0003677HP:0003677Slowly progressive0SLC34A2 CL E G H10568265100PULMONARY ALVEOLAR MICROLITHIASIS265100C0155912OMIM16811020604217
HP:0003677HP:0003677Slowly progressive0SLC34A2 CL E G H10568265100PULMONARY ALVEOLAR MICROLITHIASIS265100C0155912OMIM15911020604217
HP:0003677HP:0003677Slowly progressive0SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM131514025608761
HP:0003677HP:0003677Slowly progressive0SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM125914025608761
HP:0003677HP:0003677Slowly progressive0SMN1 CL E G H6606271150Spinal muscular atrophy type 4271150C1838230OMIM120311117600354
HP:0003677HP:0003677Slowly progressive0SMN1 CL E G H6606271150Spinal muscular atrophy type 4271150C1838230OMIM120111117600354
HP:0003677HP:0003677Slowly progressive0SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1186611226610844
HP:0003677HP:0003677Slowly progressive0SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1149411226610844
HP:0003677HP:0003677Slowly progressive0SPG11 CL E G H80208616668Charcot-Marie-Tooth disease, axonal type 2X616668C4225253OMIM1186611226610844
HP:0003677HP:0003677Slowly progressive0SPG11 CL E G H80208616668Charcot-Marie-Tooth disease, axonal type 2X616668C4225253OMIM1149411226610844
HP:0003677HP:0003677Slowly progressive0SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM112220373608181
HP:0003677HP:0003677Slowly progressive0SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM114020373608181
HP:0003677HP:0003677Slowly progressive0SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM156911276604985
HP:0003677HP:0003677Slowly progressive0SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM147811276604985
HP:0003677HP:0003677Slowly progressive0SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM156911276604985
HP:0003677HP:0003677Slowly progressive0SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM147811276604985
HP:0003677HP:0003677Slowly progressive0STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM145211386605921
HP:0003677HP:0003677Slowly progressive0STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM137911386605921
HP:0003677HP:0003677Slowly progressive0SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM131311474185620
HP:0003677HP:0003677Slowly progressive0SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM124911474185620
HP:0003677HP:0003677Slowly progressive0SYNE1 CL E G H23345610743Spinocerebellar ataxia, autosomal recessive 8610743C1853116OMIM1417017089608441
HP:0003677HP:0003677Slowly progressive0SYNE1 CL E G H23345610743Spinocerebellar ataxia, autosomal recessive 8610743C1853116OMIM1364117089608441
HP:0003677HP:0003677Slowly progressive0SYT14 CL E G H255928614229Spinocerebellar ataxia, autosomal recessive 11614229C3280226OMIM18423143610949
HP:0003677HP:0003677Slowly progressive0TBC1D24 CL E G H57465616044Deafness, autosomal dominant 65616044C3892048OMIM166629203613577
HP:0003677HP:0003677Slowly progressive0TBC1D24 CL E G H57465616044Deafness, autosomal dominant 65616044C3892048OMIM173829203613577
HP:0003677HP:0003677Slowly progressive0TEAD1 CL E G H7003108985Sveinsson chorioretinal atrophy108985C1862382OMIM110611714189967
HP:0003677HP:0003677Slowly progressive0TEAD1 CL E G H7003108985Sveinsson chorioretinal atrophy108985C1862382OMIM17511714189967
HP:0003677HP:0003677Slowly progressive0TENM4 CL E G H26011616736Tremor, hereditary essential, 5616736C4225223OMIM19329945610084
HP:0003677HP:0003677Slowly progressive0TENM4 CL E G H26011616736Tremor, hereditary essential, 5616736C4225223OMIM18629945610084
HP:0003677HP:0003677Slowly progressive0TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM126311758602498
HP:0003677HP:0003677Slowly progressive0TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM123711758602498
HP:0003677HP:0003677Slowly progressive0TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM127516255613900
HP:0003677HP:0003677Slowly progressive0TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM127016255613900
HP:0003677HP:0003677Slowly progressive0TIA1 CL E G H7072604454Welander distal myopathy604454C0221054OMIM115711802603518
HP:0003677HP:0003677Slowly progressive0TIA1 CL E G H7072604454Welander distal myopathy604454C0221054OMIM113011802603518
HP:0003677HP:0003677Slowly progressive0TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM118625186616101
HP:0003677HP:0003677Slowly progressive0TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM117625186616101
HP:0003677HP:0003677Slowly progressive0TMEM43 CL E G H79188614302Emery-Dreifuss muscular dystrophy 7, autosomal dominant614302C3553060OMIM158528472612048
HP:0003677HP:0003677Slowly progressive0TMEM43 CL E G H79188614302Emery-Dreifuss muscular dystrophy 7, autosomal dominant614302C3553060OMIM165328472612048
HP:0003677HP:0003677Slowly progressive0TOR1AIP1 CL E G H26092617072Muscular dystrophy, limb-girdle, type 2y617072C4310731OMIM131029456614512
HP:0003677HP:0003677Slowly progressive0TOR1AIP1 CL E G H26092617072Muscular dystrophy, limb-girdle, type 2y617072C4310731OMIM125929456614512
HP:0003677HP:0003677Slowly progressive0TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM17452073607998
HP:0003677HP:0003677Slowly progressive0TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM16452073607998
HP:0003677HP:0003677Slowly progressive0TRIM32 CL E G H22954254110Sarcotubular myopathy254110C0270968OMIM141016380602290
HP:0003677HP:0003677Slowly progressive0TRIM32 CL E G H22954254110Sarcotubular myopathy254110C0270968OMIM148216380602290
HP:0003677HP:0003677Slowly progressive0TTN CL E G H7273600334Distal myopathy Markesbery-Griggs type600334C1838244OMIM11902812403188840
HP:0003677HP:0003677Slowly progressive0TTN CL E G H7273600334Distal myopathy Markesbery-Griggs type600334C1838244OMIM11798412403188840
HP:0003677HP:0003677Slowly progressive0VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM123022082300913
HP:0003677HP:0003677Slowly progressive0VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM122322082300913
HP:0003677HP:0003677Slowly progressive0VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM15428385614884
HP:0003677HP:0003677Slowly progressive0WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1125814540605232
HP:0003677HP:0003677Slowly progressive0WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1109614540605232
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (159) :ABHD12 ACTA1 ACTN4 ADSSL1 AFG3L2 ALDH18A1 ALG14 ALG2 ALS2 AP4B1 AR ATP1A1 ATP6AP2 ATP7A B4GALNT1 BSCL2 C19ORF12 C19orf12 CACNA1G CCDC88C CFL2 CHCHD10 CHKB CLCN5 CLN8 COL6A1 COL6A2 COL6A3 COX6A1 CPT1C CRPPA CRYAB CWF19L1 DAB1 DARS2 DCTN1 DDHD1 DNA2 DNAJB2 DNAJB6 DNAJC6 DNM1L DNM2 DPAGT1 DYNC1H1 DYSF DZIP1L EEF2 ELOVL5 EMD ERLIN2 FARS2 FAT2 FBXO38 FBXO7 FGF14 FLNC FLVCR1 FN1 FRG1 FZD4 GAN GARS GBA2 GBE1 GJB1 GNB4 GRM1 GYG1 HEPACAM HNRNPDL HPCA HSPB1 HSPB3 IBA57 IGHMBP2 ISPD ITPR1 KBTBD13 KCNC3 KCND3 KIF1A KIF1B KY LAMA2 LMNA LRP5 LRSAM1 MAG MAP3K20 MARS MCM2 MCM3AP MECP2 MFN2 MME MORC2 MPZ MTPAP MYH7 MYMK MYOT MYPN NDUFA13 NEFL NLRP3 NOL3 ORAI1 PANK2 PARK7 PDE8B PDK3 PDYN PEX10 PEX2 PINK1 PLD3 PLP1 PMP2 PMP22 PNPLA2 POGLUT1 POMT1 PRKCG PRX PYROXD1 REEP2 RETREG1 RNASET2 RYR1 SCN9A SETX SIGMAR1 SLC25A4 SLC34A2 SLC5A7 SMN1 SPG11 SPG21 SPTBN2 STIM1 SURF1 SYNE1 SYT14 TBC1D24 TEAD1 TENM4 TFG TGM6 TIA1 TMEM240 TMEM43 TOR1AIP1 TPP1 TRIM32 TTN VMA21 VWA3B WNK1

Diseases (167) :612674 616852 603278 617030 610246 601162 616227 616228 205100 607225 606353 614066 313200 618036 300911 300489 609195 600794 270685 615043 616795 616053 610687 616209 615048 602541 308990 610003 158810 616039 616282 616052 608810 616127 615945 611105 607641 609340 615156 614881 603511 615528 610708 160150 614750 614228 158600 253601 617610 609306 615957 310300 611225 617046 617769 615575 260300 609307 609524 614065 609033 601894 158900 133780 256850 601472 614409 263570 302800 615185 617691 614831 616199 613925 609115 224500 608634 613376 616451 616155 606658 609273 605259 607346 201300 610357 118210 617114 618138 181350 614436 616680 617760 616280 616968 618124 300055 609260 617017 617018 616688 118200 180800 613672 160500 255160 608358 181430 254940 609200 182920 617336 618249 617882 617772 614937 615883 607236 606324 609161 300905 610245 614871 614867 605909 617770 312080 618279 118220 610717 617232 609308 605361 614895 617258 615625 612951 117000 602433 614373 615418 265100 158580 271150 602099 616668 248900 600224 615386 160565 616684 610743 614229 616044 108985 616736 604484 613908 604454 607454 614302 617072 609270 254110 600334 310440 616948
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.