Human Phenotype Ontology 
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Clinical course (HP:0031797)help
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Progressive (HP:0003676)help
Term ID: 3676
Name: Progressive
Synonym: Progressive disorder; Worsens with time
Definition: Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age.
Comments:
Reference: HP:0003676
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandNonprogressive (HP:0003680) help
..expandRapidly progressive (HP:0003678) help
..expandSlowly progressive (HP:0003677) help
..expandVariable progression rate (HP:0003682) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003676HP:0003676Progressive0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM118713666605378
HP:0003676HP:0003676Progressive0AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM142921022612035
HP:0003676HP:0003676Progressive0ABCD1 CL E G H215300100Adrenoleukodystrophy300100C0162309OMIM1122061300371
HP:0003676HP:0003676Progressive0ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM15067170995
HP:0003676HP:0003676Progressive0ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM14916066617036
HP:0003676HP:0003676Progressive0ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM14341839607575
HP:0003676HP:0003676Progressive0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM190257102750
HP:0003676HP:0003676Progressive0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1385315604581
HP:0003676HP:0003676Progressive0AGTPBP1 CL E G H23287618276618276618276OMIM16617258606830
HP:0003676HP:0003676Progressive0AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14878768300169
HP:0003676HP:0003676Progressive0AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM17110648603605
HP:0003676HP:0003676Progressive0AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM112520609600859
HP:0003676HP:0003676Progressive0AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM1634391164730
HP:0003676HP:0003676Progressive0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM14379722138250
HP:0003676HP:0003676Progressive0ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1754443606352
HP:0003676HP:0003676Progressive0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1754443606352
HP:0003676HP:0003676Progressive0ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM197227337608662
HP:0003676HP:0003676Progressive0ANTXR2 CL E G H118429228600Hyaline fibromatosis syndrome228600C2745948OMIM126421732608041
HP:0003676HP:0003676Progressive0AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM181022197613653
HP:0003676HP:0003676Progressive0ASAH1 CL E G H427228000Farber disease228000C0268255OMIM1712735613468
HP:0003676HP:0003676Progressive0ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1712735613468
HP:0003676HP:0003676Progressive0ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1432753108370
HP:0003676HP:0003676Progressive0ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM111625903614452
HP:0003676HP:0003676Progressive0ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM140811231606439
HP:0003676HP:0003676Progressive0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0003676HP:0003676Progressive0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11924117601873
HP:0003676HP:0003676Progressive0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM13341020603647
HP:0003676HP:0003676Progressive0BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM196021701614506
HP:0003676HP:0003676Progressive0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM143515832606158
HP:0003676HP:0003676Progressive0C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM126784613541
HP:0003676HP:0003676Progressive0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM127625443614297
HP:0003676HP:0003676Progressive0CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM126891388601011
HP:0003676HP:0003676Progressive0CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM14691389601012
HP:0003676HP:0003676Progressive0CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM18791424114010
HP:0003676HP:0003676Progressive0CCNO CL E G H10309615872Ciliary dyskinesia, primary, 29615872C4014534OMIM113018576607752
HP:0003676HP:0003676Progressive0CERS1 CL E G H10715616230Epilepsy, progressive myoclonic 8616230C4015619OMIM132614253606919
HP:0003676HP:0003676Progressive0CFHR5 CL E G H81494614809CFHR5 deficiency614809C3553720OMIM116824668608593
HP:0003676HP:0003676Progressive0CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM124815559615903
HP:0003676HP:0003676Progressive0CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM14081965100720
HP:0003676HP:0003676Progressive0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM145330664616254
HP:0003676HP:0003676Progressive0COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM117529932609855
HP:0003676HP:0003676Progressive0COCH CL E G H1690601369Deafness, autosomal dominant 9601369C1832425OMIM12032180603196
HP:0003676HP:0003676Progressive0COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM116672204120070
HP:0003676HP:0003676Progressive0COL4A3 CL E G H1285203780Alport syndrome, autosomal recessive203780C1567744OMIM116672204120070
HP:0003676HP:0003676Progressive0COL4A4 CL E G H1286203780Alport syndrome, autosomal recessive203780C1567744OMIM118632206120131
HP:0003676HP:0003676Progressive0COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM117652207303630
HP:0003676HP:0003676Progressive0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114702211120220
HP:0003676HP:0003676Progressive0COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM116442212120240
HP:0003676HP:0003676Progressive0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM116442212120240
HP:0003676HP:0003676Progressive0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM124142213120250
HP:0003676HP:0003676Progressive0COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1582232606990
HP:0003676HP:0003676Progressive0COQ8B CL E G H79934615573Nephrotic syndrome, type 9615573C3809965OMIM116219041615567
HP:0003676HP:0003676Progressive0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12932260602125
HP:0003676HP:0003676Progressive0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12512263603646
HP:0003676HP:0003676Progressive0CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM11322342600184
HP:0003676HP:0003676Progressive0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1104426169613129
HP:0003676HP:0003676Progressive0CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM11822531603539
HP:0003676HP:0003676Progressive0CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM13332652603711
HP:0003676HP:0003676Progressive0DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0003676HP:0003676Progressive0DCDC2 CL E G H51473617394Sclerosing cholangitis, neonatal617394C4479344OMIM120118141605755
HP:0003676HP:0003676Progressive0DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM124929106615003
HP:0003676HP:0003676Progressive0DGKE CL E G H8526615008Nephrotic syndrome, type 7615008C3554330OMIM11102852601440
HP:0003676HP:0003676Progressive0DIABLO CL E G H56616614152Deafness, autosomal dominant 64614152C3279948OMIM110021528605219
HP:0003676HP:0003676Progressive0DMXL2 CL E G H23312617605DEAFNESS, AUTOSOMAL DOMINANT 71617605C4539881OMIM14392938612186
HP:0003676HP:0003676Progressive0DNAJB11 CL E G H51726618061POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE618061CN252647OMIM111114889611341
HP:0003676HP:0003676Progressive0DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM14452973603850
HP:0003676HP:0003676Progressive0DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM19952976126375
HP:0003676HP:0003676Progressive0DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM19952976126375
HP:0003676HP:0003676Progressive0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12033005603503
HP:0003676HP:0003676Progressive0ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM114585959603722
HP:0003676HP:0003676Progressive0ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM111018248616054
HP:0003676HP:0003676Progressive0EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM168928957616846
HP:0003676HP:0003676Progressive0EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0003676HP:0003676Progressive0ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM19716947611604
HP:0003676HP:0003676Progressive0ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11591356611605
HP:0003676HP:0003676Progressive0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11569137606180
HP:0003676HP:0003676Progressive0FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM131221197611026
HP:0003676HP:0003676Progressive0FAN1 CL E G H22909614817Interstitial nephritis, karyomegalic614817C3553774OMIM136029170613534
HP:0003676HP:0003676Progressive0FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM15173702300163
HP:0003676HP:0003676Progressive0FIG4 CL E G H9896611228Charcot-Marie-Tooth disease, type 4J611228C1970011OMIM174916873609390
HP:0003676HP:0003676Progressive0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM17833622607440
HP:0003676HP:0003676Progressive0FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11513999134790
HP:0003676HP:0003676Progressive0GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM127718986609471
HP:0003676HP:0003676Progressive0GNAS CL E G H2778166350Progressive osseous heteroplasia166350C0334041OMIM14454392139320
HP:0003676HP:0003676Progressive0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0003676HP:0003676Progressive0GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM12724431604027
HP:0003676HP:0003676Progressive0GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM18618062138210
HP:0003676HP:0003676Progressive0GRHL2 CL E G H79977608641Deafness, autosomal dominant 28608641C1837640OMIM11962799608576
HP:0003676HP:0003676Progressive0HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11304912601314
HP:0003676HP:0003676Progressive0HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM13914922142600
HP:0003676HP:0003676Progressive0HSPD1 CL E G H3329605280Spastic paraplegia 13605280C1854467OMIM12075261118190
HP:0003676HP:0003676Progressive0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM117827302615316
HP:0003676HP:0003676Progressive0INF2 CL E G H64423614455Charcot-Marie-Tooth disease, dominant intermediate E614455C3280845OMIM1115023791610982
HP:0003676HP:0003676Progressive0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM115733882607875
HP:0003676HP:0003676Progressive0IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM116714282611720
HP:0003676HP:0003676Progressive0ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM14428660611006
HP:0003676HP:0003676Progressive0ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM15619857615317
HP:0003676HP:0003676Progressive0KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM13326233176258
HP:0003676HP:0003676Progressive0KCNK3 CL E G H3777615344Primary pulmonary hypertension 4615344C3809198OMIM11416278603220
HP:0003676HP:0003676Progressive0KCNQ4 CL E G H9132600101DFNA 2 Nonsyndromic Hearing Loss600101C2677637OMIM12516298603537
HP:0003676HP:0003676Progressive0KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1167818865608167
HP:0003676HP:0003676Progressive0KCTD17 CL E G H79734616398Dystonia 26, myoclonic616398C4225341OMIM19425705616386
HP:0003676HP:0003676Progressive0KCTD7 CL E G H154881611726Epilepsy, progressive myoclonic 3611726C2673257OMIM138121957611725
HP:0003676HP:0003676Progressive0KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12132888601255
HP:0003676HP:0003676Progressive0KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM12132888601255
HP:0003676HP:0003676Progressive0KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM13666317603060
HP:0003676HP:0003676Progressive0KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM17446323602821
HP:0003676HP:0003676Progressive0KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM16120716611729
HP:0003676HP:0003676Progressive0KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM161015840606834
HP:0003676HP:0003676Progressive0LAMB1 CL E G H3912615191Lissencephaly 5615191C3554657OMIM15126486150240
HP:0003676HP:0003676Progressive0LIMS2 CL E G H55679616827Muscular dystrophy, limb-girdle, type 2W616827C4225192OMIM121916084607908
HP:0003676HP:0003676Progressive0LMNA CL E G H4000613205Congenital muscular dystrophy, LMNA-related613205C2750785OMIM116226636150330
HP:0003676HP:0003676Progressive0LMNA CL E G H4000616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive616516C2750035OMIM116226636150330
HP:0003676HP:0003676Progressive0LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM11696637150340
HP:0003676HP:0003676Progressive0LMNB2 CL E G H84823616540Epilepsy, progressive myoclonic, 9616540C4225289OMIM14666638150341
HP:0003676HP:0003676Progressive0LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM114461742606453
HP:0003676HP:0003676Progressive0LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM17728072615831
HP:0003676HP:0003676Progressive0MAPKBP1 CL E G H23005617271Nephronophthisis 20617271C4310640OMIM113329536616786
HP:0003676HP:0003676Progressive0MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0003676HP:0003676Progressive0MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM117786990300005
HP:0003676HP:0003676Progressive0MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM18519691608205
HP:0003676HP:0003676Progressive0MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM13572375603810
HP:0003676HP:0003676Progressive0MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM111724858614785
HP:0003676HP:0003676Progressive0MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM17925897614397
HP:0003676HP:0003676Progressive0MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM17816205615076
HP:0003676HP:0003676Progressive0MOCS1 CL E G H4337252150Molybdenum cofactor deficiency, complementation group A252150C1854988OMIM14387190603707
HP:0003676HP:0003676Progressive0MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM12397193603708
HP:0003676HP:0003676Progressive0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12007224137960
HP:0003676HP:0003676Progressive0MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM117297230600814
HP:0003676HP:0003676Progressive0MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM18316618611994
HP:0003676HP:0003676Progressive0MTAP CL E G H4507112250Diaphyseal medullary stenosis with malignant fibrous histiocytoma112250C1862177OMIM12397413156540
HP:0003676HP:0003676Progressive0MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM185723212608568
HP:0003676HP:0003676Progressive0MYO1E CL E G H4643614131Focal segmental glomerulosclerosis 6614131C3279905OMIM13317599601479
HP:0003676HP:0003676Progressive0NAGLU CL E G H4669616491Charcot-Marie-Tooth disease, axonal type 2V616491C4225306OMIM17757632609701
HP:0003676HP:0003676Progressive0NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM165319082611549
HP:0003676HP:0003676Progressive0NBEAL2 CL E G H23218139090Gray platelet syndrome139090C0272302OMIM135331928614169
HP:0003676HP:0003676Progressive0NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM17123987614530
HP:0003676HP:0003676Progressive0NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM111528086609653
HP:0003676HP:0003676Progressive0NDUFB9 CL E G H4715618245MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24618245OMIM11187704601445
HP:0003676HP:0003676Progressive0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13327707157655
HP:0003676HP:0003676Progressive0NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM11647714601825
HP:0003676HP:0003676Progressive0NEFH CL E G H4744616924Charcot-Marie-Tooth disease, axonal, type 2CC616924C4310790OMIM14657737162230
HP:0003676HP:0003676Progressive0NIPA1 CL E G H123606600363Spastic paraplegia 6600363C1838192OMIM157617043608145
HP:0003676HP:0003676Progressive0NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM117219321605955
HP:0003676HP:0003676Progressive0NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM14215911614154
HP:0003676HP:0003676Progressive0NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11127981601828
HP:0003676HP:0003676Progressive0NUP107 CL E G H57122616730Nephrotic syndrome, type 11616730C4225228OMIM114929914607617
HP:0003676HP:0003676Progressive0NUP133 CL E G H55746618177NEPHROTIC SYNDROME, TYPE 18618177OMIM18118016607613
HP:0003676HP:0003676Progressive0NUP160 CL E G H23279618178NEPHROTIC SYNDROME, TYPE 19618178OMIM15918017607614
HP:0003676HP:0003676Progressive0NUP85 CL E G H79902618176NEPHROTIC SYNDROME, TYPE 17618176OMIM1548734170285
HP:0003676HP:0003676Progressive0NUP93 CL E G H9688616892Nephrotic syndrome, type 12616892C4225166OMIM113528958614351
HP:0003676HP:0003676Progressive0OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM18858140605290
HP:0003676HP:0003676Progressive0OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM18858140605290
HP:0003676HP:0003676Progressive0PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1638565602279
HP:0003676HP:0003676Progressive0PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1156613406604918
HP:0003676HP:0003676Progressive0PCNA CL E G H5111615919Ataxia-telangiectasia-like disorder 2615919C4014676OMIM1418729176740
HP:0003676HP:0003676Progressive0PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11058800190040
HP:0003676HP:0003676Progressive0PDGFB CL E G H5155615483Idiopathic basal ganglia calcification 5615483C3809645OMIM11058800190040
HP:0003676HP:0003676Progressive0PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM13458804173410
HP:0003676HP:0003676Progressive0PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM13468857603360
HP:0003676HP:0003676Progressive0PIEZO2 CL E G H63895617146Arthrogryposis, distal, with impaired proprioception and touch617146C4310692OMIM175526270613629
HP:0003676HP:0003676Progressive0PIK3R5 CL E G H23533615217Ataxia-oculomotor apraxia 3615217C3554690OMIM14830035611317
HP:0003676HP:0003676Progressive0PKD2 CL E G H5311613095Polycystic kidney disease 2613095C2751306OMIM16519009173910
HP:0003676HP:0003676Progressive0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM15989039603604
HP:0003676HP:0003676Progressive0PLCE1 CL E G H51196610725Nephrotic syndrome, type 3610725C1853124OMIM136617175608414
HP:0003676HP:0003676Progressive0PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM1689119603131
HP:0003676HP:0003676Progressive0PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM194316268603197
HP:0003676HP:0003676Progressive0PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM19028900612123
HP:0003676HP:0003676Progressive0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM119179179174763
HP:0003676HP:0003676Progressive0POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM119179179174763
HP:0003676HP:0003676Progressive0POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM119179179174763
HP:0003676HP:0003676Progressive0POLG2 CL E G H11232610131Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4610131C1864668OMIM12409180604983
HP:0003676HP:0003676Progressive0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM178530074614258
HP:0003676HP:0003676Progressive0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM136830348614366
HP:0003676HP:0003676Progressive0POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM194319139606822
HP:0003676HP:0003676Progressive0PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM136513993616639
HP:0003676HP:0003676Progressive0PRICKLE1 CL E G H144165612437Progressive myoclonus epilepsy with ataxia612437C2676254OMIM148817019608500
HP:0003676HP:0003676Progressive0PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11639438603424
HP:0003676HP:0003676Progressive0PRUNE1 CL E G H58497617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies617481C4479566OMIM14113420617413
HP:0003676HP:0003676Progressive0PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14124265608625
HP:0003676HP:0003676Progressive0PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM111514957607204
HP:0003676HP:0003676Progressive0PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM110430262616406
HP:0003676HP:0003676Progressive0QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM19751603727
HP:0003676HP:0003676Progressive0RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM151321406611524
HP:0003676HP:0003676Progressive0RBCK1 CL E G H10616615895Polyglucosan body myopathy 1 with or without immunodeficiency615895C4014605OMIM136415864610924
HP:0003676HP:0003676Progressive0REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM18015578614825
HP:0003676HP:0003676Progressive0RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM145325964613114
HP:0003676HP:0003676Progressive0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM110418466604123
HP:0003676HP:0003676Progressive0RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM123524116610330
HP:0003676HP:0003676Progressive0RRM2B CL E G H50484612075Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy612075C2749861OMIM129317296604712
HP:0003676HP:0003676Progressive0RTN2 CL E G H6253604805Spastic paraplegia 12604805C1858106OMIM118410468603183
HP:0003676HP:0003676Progressive0RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM111828991613516
HP:0003676HP:0003676Progressive0SBF1 CL E G H6305615284Charcot-Marie-Tooth disease, type 4B3615284C3695063OMIM1115710542603560
HP:0003676HP:0003676Progressive0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1218610680600857
HP:0003676HP:0003676Progressive0SEC61A1 CL E G H29927617056Hyperuricemic nephropathy, familial juvenile, 4617056C4310741OMIM113818276609213
HP:0003676HP:0003676Progressive0SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM11290445608465
HP:0003676HP:0003676Progressive0SGCA CL E G H6442608099Limb-girdle muscular dystrophy, type 2D608099C2936332OMIM153710805600119
HP:0003676HP:0003676Progressive0SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM18910817603729
HP:0003676HP:0003676Progressive0SIGMAR1 CL E G H10280605726Distal spinal muscular atrophy, autosomal recessive 2605726C1854023OMIM12068157601978
HP:0003676HP:0003676Progressive0SLC12A6 CL E G H9990218000Andermann syndrome218000C0795950OMIM191110914604878
HP:0003676HP:0003676Progressive0SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM128110947158378
HP:0003676HP:0003676Progressive0SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM127810990103220
HP:0003676HP:0003676Progressive0SLC33A1 CL E G H9197614482Congenital cataracts, hearing loss, and neurodegeneration614482C3280965OMIM114595603690
HP:0003676HP:0003676Progressive0SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM117620858608736
HP:0003676HP:0003676Progressive0SLC44A4 CL E G H80736617606DEAFNESS, AUTOSOMAL DOMINANT 72617606C4539886OMIM110013941606107
HP:0003676HP:0003676Progressive0SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM145830224607882
HP:0003676HP:0003676Progressive0SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM139916187613350
HP:0003676HP:0003676Progressive0SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM147911049126455
HP:0003676HP:0003676Progressive0SLC9A1 CL E G H6548616291Lichtenstein-knorr syndrome616291C4225383OMIM16611071107310
HP:0003676HP:0003676Progressive0SMAD9 CL E G H4093615342Primary pulmonary hypertension 2615342C3888002OMIM11506774603295
HP:0003676HP:0003676Progressive0SMN1 CL E G H6606253400Kugelberg-Welander disease253400C0152109OMIM120811117600354
HP:0003676HP:0003676Progressive0SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM117711138163890
HP:0003676HP:0003676Progressive0SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM111811139603779
HP:0003676HP:0003676Progressive0SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM113032952616663
HP:0003676HP:0003676Progressive0SOST CL E G H50964122860Craniodiaphyseal dysplasia, autosomal dominant122860C2675746OMIM18513771605740
HP:0003676HP:0003676Progressive0SOX18 CL E G H54345137940Glomerulonephritis with sparse hair and telangiectases137940C1841989OMIM17611194601618
HP:0003676HP:0003676Progressive0SPAST CL E G H6683182601Spastic paraplegia 4, autosomal dominant182601C1866855OMIM1101411233604277
HP:0003676HP:0003676Progressive0SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1216511226610844
HP:0003676HP:0003676Progressive0SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM154211280601530
HP:0003676HP:0003676Progressive0SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM154211280601530
HP:0003676HP:0003676Progressive0STIM1 CL E G H6786185070Stormorken syndrome185070C1861451OMIM152211386605921
HP:0003676HP:0003676Progressive0STUB1 CL E G H10273618093SPINOCEREBELLAR ATAXIA 48618093OMIM117011427607207
HP:0003676HP:0003676Progressive0STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM117011427607207
HP:0003676HP:0003676Progressive0SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM135511474185620
HP:0003676HP:0003676Progressive0SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1104611503604297
HP:0003676HP:0003676Progressive0TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM179529203613577
HP:0003676HP:0003676Progressive0TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM179529203613577
HP:0003676HP:0003676Progressive0TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM135711582604934
HP:0003676HP:0003676Progressive0TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM129411584604834
HP:0003676HP:0003676Progressive0TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM111611588600075
HP:0003676HP:0003676Progressive0TFAM CL E G H7019617156Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)617156C4310690OMIM15811741600438
HP:0003676HP:0003676Progressive0TJP2 CL E G H9414615878Progressive familial intrahepatic cholestasis 4615878C2931067OMIM154511828607709
HP:0003676HP:0003676Progressive0TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM135611831188250
HP:0003676HP:0003676Progressive0TNFRSF11A CL E G H8792174810Familial expansile osteolysis174810C0432292OMIM142011908603499
HP:0003676HP:0003676Progressive0TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM116811909602643
HP:0003676HP:0003676Progressive0TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM110629947608112
HP:0003676HP:0003676Progressive0TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM111424284614139
HP:0003676HP:0003676Progressive0TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM15523066610397
HP:0003676HP:0003676Progressive0TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM132712269606609
HP:0003676HP:0003676Progressive0TRPC3 CL E G H7222616410Spinocerebellar ataxia 41616410C4225158OMIM14412335602345
HP:0003676HP:0003676Progressive0TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM134112405176300
HP:0003676HP:0003676Progressive0TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM121920774602662
HP:0003676HP:0003676Progressive0TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM13081160606075
HP:0003676HP:0003676Progressive0TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM13081160606075
HP:0003676HP:0003676Progressive0TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM15017772609063
HP:0003676HP:0003676Progressive0TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18033148131222
HP:0003676HP:0003676Progressive0UBA5 CL E G H79876617133Spinocerebellar ataxia, autosomal recessive 24617133C4310699OMIM115723230610552
HP:0003676HP:0003676Progressive0UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM122312509300264
HP:0003676HP:0003676Progressive0UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM111112513191342
HP:0003676HP:0003676Progressive0UMOD CL E G H7369162000Familial juvenile gout162000C0268113OMIM126512559191845
HP:0003676HP:0003676Progressive0VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM122025507604632
HP:0003676HP:0003676Progressive0VARS CL E G H7407617802NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY617802C4540493OMIM112651192150
HP:0003676HP:0003676Progressive0VCP CL E G H7415616687Charcot-Marie-Tooth disease, axonal, type 2y616687C4225244OMIM147312666601023
HP:0003676HP:0003676Progressive0VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM117351908605978
HP:0003676HP:0003676Progressive0VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM152123594608879
HP:0003676HP:0003676Progressive0VPS53 CL E G H55275615851Pontocerebellar hypoplasia, type 2e615851C4014488OMIM131525608615850
HP:0003676HP:0003676Progressive0VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM138512718602168
HP:0003676HP:0003676Progressive0WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM152728984610657
HP:0003676HP:0003676Progressive0WDR45B CL E G H56270617977NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES617977CN244929OMIM16125072609226
HP:0003676HP:0003676Progressive0WT1 CL E G H7490256370Diffuse mesangial sclerosis256370C0268747OMIM1114612796607102
HP:0003676HP:0003676Progressive0XPR1 CL E G H9213616413Basal ganglia calcification, idiopathic, 6616413C4225335OMIM116712827605237
HP:0003676HP:0003676Progressive0XRCC1 CL E G H7515617633SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26617633C4539948OMIM15212828194360
HP:0003676HP:0003676Progressive0YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM115624249610957
HP:0003676HP:0003676Progressive0ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM1189420761612012
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (251) :AAAS AARS2 ABCD1 ABCD3 ACER3 ADA2 ADK AFG3L2 AGTPBP1 AIFM1 AIMP1 AIMP2 AKT1 ALDH18A1 ALS2 ANO5 ANTXR2 AP5Z1 ASAH1 ASNS ATAD1 ATL1 ATXN3 B4GALNT1 BCS1L BRAT1 BSCL2 C12ORF65 C12orf65 C19ORF12 C19orf12 CACNA1A CACNA1B CAD CCNO CERS1 CFHR5 CHCHD10 CHRND CLPB COASY COCH COL4A3 COL4A4 COL4A5 COL6A1 COL6A2 COL6A3 COPB2 COQ8B COX10 COX15 CRAT CTC1 CTSF CYP7B1 DARS DCDC2 DDHD2 DGKE DIABLO DMXL2 DNAJB11 DNM1L DNMT1 DPM1 ELP1 ELP2 EMC1 EPRS ERLIN1 ERLIN2 EXOSC9 FA2H FAN1 FHL1 FIG4 FKTN FTL GBA2 GNAS GNS GOSR2 GPT2 GRHL2 HINT1 HK1 HSPD1 IBA57 INF2 INPP5K IRF2BPL ISCA1 ISCA2 KCNC1 KCNK3 KCNQ4 KCNT1 KCTD17 KCTD7 KIF1A KIF1C KIF5A KLC2 KMT2B LAMB1 LIMS2 LMNA LMNB1 LMNB2 LRBA LYRM7 MAPKBP1 MARS MECP2 MECR MED17 MFF MFSD2A MGME1 MOCS1 MOCS2 MPV17 MRE11 MRPS34 MTAP MYH14 MYO1E NAGLU NALCN NBEAL2 NDUFA12 NDUFAF2 NDUFB9 NDUFS1 NDUFS7 NEFH NIPA1 NKX6-2 NOP56 NR4A2 NUP107 NUP133 NUP160 NUP85 NUP93 OPA1 PABPN1 PCLO PCNA PDGFB PDGFRB PEX16 PIEZO2 PIK3R5 PKD2 PLA2G6 PLCE1 PMPCB PNPLA6 PNPLA8 POLG POLG2 POLR3A POLR3B POMGNT1 PRDM8 PRICKLE1 PRKRA PRUNE1 PTRH2 PUM1 PYCR2 QARS RARS2 RBCK1 REPS1 RETREG1 RNASEH1 RNASEH2C RRM2B RTN2 RUBCN SBF1 SDHA SEC61A1 SETX SGCA SGPL1 SIGMAR1 SLC12A6 SLC20A2 SLC25A4 SLC33A1 SLC39A14 SLC44A4 SLC52A2 SLC52A3 SLC6A3 SLC9A1 SMAD9 SMN1 SNCA SNCAIP SNORD118 SOST SOX18 SPAST SPG11 SQSTM1 STIM1 STUB1 SURF1 SYNJ1 TBC1D24 TBCE TBK1 TBP TFAM TJP2 TK2 TNFRSF11A TNFRSF11B TRAK1 TRAPPC12 TRAPPC6B TREX1 TRPC3 TTR TUBB4A TWNK TXN2 TYMP UBA5 UBQLN2 UCHL1 UMOD VAC14 VARS VCP VPS13A VPS13C VPS53 VRK1 WASHC5 WDR45B WT1 XPR1 XRCC1 YARS2 ZFYVE26

Diseases (252) :231550 615889 300100 616278 617762 182410 614300 614487 618276 300816 260600 618006 176920 616586 205100 607225 611307 228600 613647 228000 159950 615574 618011 613708 109150 609195 256000 614498 615924 613559 614298 183086 614860 616457 615872 616230 614809 615911 616321 616271 615643 601369 104200 203780 301050 254090 255600 617800 615573 617917 612199 615362 270800 615281 617394 615033 615008 614152 617605 618061 614388 604121 614116 608799 223900 617270 616875 617951 615681 611225 618065 612319 614817 300696 611228 611588 606159 614409 166350 252940 614018 616281 608641 137200 605285 605280 615330 614455 617404 618088 617613 616370 616187 615344 600101 614959 616398 611726 614213 614255 611302 604187 609541 617284 615191 616827 613205 616516 169500 616540 614700 615838 617271 615486 300260 617282 613668 617086 616486 615084 252150 252160 256810 604391 617664 112250 614369 614131 616491 615419 139090 618244 618233 618245 618226 618224 616924 600363 617560 614153 168600 616730 618177 618178 618176 616892 210000 125250 164300 608027 615919 213600 615483 614877 617146 615217 613095 610217 610725 617954 215470 251950 157640 603041 613662 610131 607694 613157 616640 612437 612067 617481 616263 617931 616420 615760 611523 615895 617916 613115 616479 610329 612075 604805 615705 615284 617056 606002 608099 617575 605726 218000 609283 614482 617013 617606 614707 211530 613135 616291 615342 253400 168601 614561 122860 137940 182601 604360 616437 617145 185070 618093 615768 615530 220500 615338 617207 616439 607136 617156 615878 609560 174810 239000 618201 617669 617862 192315 616410 105210 612438 609286 271245 616811 617133 300857 615491 162000 617054 617802 616687 200150 616840 615851 607596 603563 617977 256370 616413 617633 613561 270700
 

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