Human Phenotype Ontology 
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Clinical course (HP:0031797)help
Parent Node:
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Onset (HP:0003674)help
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Adult onset (HP:0003581)help
Term ID: 3581
Name: Adult onset
Synonym: Onset in adulthood; Onset in early adulthood; Symptoms begin in adulthood
Definition: Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.
Comments:
Reference: HP:0003581
Genes and Diseases:
 
       Child Nodes:
........expandLate onset (HP:0003584) help
........expandMiddle age onset (HP:0003596) help
........expandYoung adult onset (HP:0011462) help

 Sister Nodes: 
..expandAntenatal onset (HP:0030674) help
..expandChildhood onset (HP:0011463) help
..expandCongenital onset (HP:0003577) help
..expandInfantile onset (HP:0003593) help
..expandJuvenile onset (HP:0003621) help
..expandNeonatal onset (HP:0003623) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003581HP:0003581Adult onset0ADRA2B CL E G H151607876Epilepsy, familial adult myoclonic 2607876C1842852OMIM180282104260
HP:0003581HP:0003581Adult onset0AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0003581HP:0003581Adult onset0ANKH CL E G H56172118600Chondrocalcinosis 2118600C0856830OMIM145715492605145
HP:0003581HP:0003581Adult onset0ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM197227337608662
HP:0003581HP:0003581Adult onset0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0003581HP:0003581Adult onset0AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1556644313700
HP:0003581HP:0003581Adult onset0ARHGEF10 CL E G H9639608236Slowed nerve conduction velocity, autosomal dominant608236C1842357OMIM151114103608136
HP:0003581HP:0003581Adult onset0ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM140811231606439
HP:0003581HP:0003581Adult onset0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0003581HP:0003581Adult onset0C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117328337614260
HP:0003581HP:0003581Adult onset0CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM14691389601012
HP:0003581HP:0003581Adult onset0CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM112881480114240
HP:0003581HP:0003581Adult onset0CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13901529601253
HP:0003581HP:0003581Adult onset0CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM127919967611204
HP:0003581HP:0003581Adult onset0CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM114124537609512
HP:0003581HP:0003581Adult onset0CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM15532077606725
HP:0003581HP:0003581Adult onset0CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM113318540608846
HP:0003581HP:0003581Adult onset0CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM12302389123590
HP:0003581HP:0003581Adult onset0CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0003581HP:0003581Adult onset0CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM11822531603539
HP:0003581HP:0003581Adult onset0CYLD CL E G H1540132700Cylindromatosis, familial132700C1851526OMIM12522584605018
HP:0003581HP:0003581Adult onset0CYLD CL E G H1540601606Familial multiple trichoepitheliomata601606C1275122OMIM12522584605018
HP:0003581HP:0003581Adult onset0CYLD CL E G H1540605041Spiegler-Brooke syndrome605041C1857941OMIM12522584605018
HP:0003581HP:0003581Adult onset0DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM18582711601143
HP:0003581HP:0003581Adult onset0DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11672858601465
HP:0003581HP:0003581Adult onset0DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM173702928300377
HP:0003581HP:0003581Adult onset0DNAJB11 CL E G H51726618061POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE618061CN252647OMIM111114889611341
HP:0003581HP:0003581Adult onset0DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM141114888611332
HP:0003581HP:0003581Adult onset0DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM139316235611203
HP:0003581HP:0003581Adult onset0DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM19952976126375
HP:0003581HP:0003581Adult onset0DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM1603007605951
HP:0003581HP:0003581Adult onset0DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM127363097603009
HP:0003581HP:0003581Adult onset0EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM12043214130610
HP:0003581HP:0003581Adult onset0ENO3 CL E G H2027612932Glycogen storage disease type 13612932C2752027OMIM11753354131370
HP:0003581HP:0003581Adult onset0ERBB4 CL E G H2066615515Amyotrophic lateral sclerosis 19615515C3715155OMIM13213432600543
HP:0003581HP:0003581Adult onset0F5 CL E G H2153188055Thrombophilia due to activated protein C resistance188055C1861171OMIM15133542612309
HP:0003581HP:0003581Adult onset0FAT2 CL E G H2196617769SPINOCEREBELLAR ATAXIA 45617769C4540400OMIM11883596604269
HP:0003581HP:0003581Adult onset0FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM15173702300163
HP:0003581HP:0003581Adult onset0FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM134553756102565
HP:0003581HP:0003581Adult onset0FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13383775309550
HP:0003581HP:0003581Adult onset0GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14177606463
HP:0003581HP:0003581Adult onset0GBE1 CL E G H2632263570Polyglucosan body disease, adult263570C1849722OMIM16004180607839
HP:0003581HP:0003581Adult onset0GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM14454392139320
HP:0003581HP:0003581Adult onset0GNE CL E G H10020605820Nonaka myopathy605820C1853926OMIM178323657603824
HP:0003581HP:0003581Adult onset0GSN CL E G H2934105120Meretoja syndrome105120C1622345OMIM14124620137350
HP:0003581HP:0003581Adult onset0HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM12485037607137
HP:0003581HP:0003581Adult onset0HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13295246602195
HP:0003581HP:0003581Adult onset0ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM111346180147265
HP:0003581HP:0003581Adult onset0LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM11696637150340
HP:0003581HP:0003581Adult onset0MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15146893157140
HP:0003581HP:0003581Adult onset0MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM15146893157140
HP:0003581HP:0003581Adult onset0MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM13336912164015
HP:0003581HP:0003581Adult onset0MED25 CL E G H81857605589Charcot-Marie-Tooth disease type 2B2605589C1854150OMIM152528845610197
HP:0003581HP:0003581Adult onset0MME CL E G H4311617017Charcot-Marie-Tooth disease, axonal, type 2T617017C4015635OMIM14227154120520
HP:0003581HP:0003581Adult onset0MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM14227154120520
HP:0003581HP:0003581Adult onset0MN1 CL E G H4330607174Meningioma, familial607174C1333989OMIM11007180156100
HP:0003581HP:0003581Adult onset0MTOR CL E G H2475607341Focal cortical dysplasia type II607341C1846385OMIM116713942601231
HP:0003581HP:0003581Adult onset0MUC1 CL E G H4582174000Medullary cystic kidney disease 1174000C1868139OMIM1257508158340
HP:0003581HP:0003581Adult onset0MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM129512399604103
HP:0003581HP:0003581Adult onset0NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM11837631104170
HP:0003581HP:0003581Adult onset0NF2 CL E G H4771607174Meningioma, familial607174C1333989OMIM115187773607379
HP:0003581HP:0003581Adult onset0NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1437869605235
HP:0003581HP:0003581Adult onset0NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM111337883600276
HP:0003581HP:0003581Adult onset0OSMR CL E G H9180105250Primary localized cutaneous amyloidosis 1105250C0268398OMIM1588507601743
HP:0003581HP:0003581Adult onset0PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1638565602279
HP:0003581HP:0003581Adult onset0PARK7 CL E G H11315606324Parkinson disease 7606324C1853445OMIM116016369602533
HP:0003581HP:0003581Adult onset0PARN CL E G H5073616371Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4616371C4225347OMIM14438609604212
HP:0003581HP:0003581Adult onset0PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11058800190040
HP:0003581HP:0003581Adult onset0PDGFB CL E G H5155607174Meningioma, familial607174C1333989OMIM11058800190040
HP:0003581HP:0003581Adult onset0PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM13458804173410
HP:0003581HP:0003581Adult onset0PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM19758975171834
HP:0003581HP:0003581Adult onset0PLD3 CL E G H23646617770SPINOCEREBELLAR ATAXIA 46617770C4540404OMIM12217158615698
HP:0003581HP:0003581Adult onset0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM144330802609059
HP:0003581HP:0003581Adult onset0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM119179179174763
HP:0003581HP:0003581Adult onset0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM119179179174763
HP:0003581HP:0003581Adult onset0POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM119179179174763
HP:0003581HP:0003581Adult onset0POLG2 CL E G H11232610131Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4610131C1864668OMIM12409180604983
HP:0003581HP:0003581Adult onset0PRKCSH CL E G H5589174050Polycystic liver disease 1174050C4310613OMIM12119411177060
HP:0003581HP:0003581Adult onset0PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM16558607602544
HP:0003581HP:0003581Adult onset0PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11649449176640
HP:0003581HP:0003581Adult onset0PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11649449176640
HP:0003581HP:0003581Adult onset0PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM14529508104311
HP:0003581HP:0003581Adult onset0PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM127509588601728
HP:0003581HP:0003581Adult onset0RNF170 CL E G H81790608984Ataxia, sensory, autosomal dominant608984C1837015OMIM16825358614649
HP:0003581HP:0003581Adult onset0RTEL1 CL E G H51750616373Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3616373C4225346OMIM1200515888608833
HP:0003581HP:0003581Adult onset0SAMD12 CL E G H401474601068Epilepsy, familial adult myoclonic, 1601068C1832841OMIM16231750618073
HP:0003581HP:0003581Adult onset0SCN10A CL E G H6336615551Episodic pain syndrome, familial, 2615551C3809893OMIM1153910582604427
HP:0003581HP:0003581Adult onset0SDHAF2 CL E G H54949601650Paragangliomas 2601650C1866552OMIM141226034613019
HP:0003581HP:0003581Adult onset0SDHB CL E G H6390115310Paragangliomas 4115310C1861848OMIM1109910681185470
HP:0003581HP:0003581Adult onset0SDHC CL E G H6391605373Paragangliomas 3605373C1854336OMIM170210682602413
HP:0003581HP:0003581Adult onset0SDHD CL E G H6392168000Paragangliomas 1168000C1868633OMIM160710683602690
HP:0003581HP:0003581Adult onset0SEC63 CL E G H11231617004Polycystic liver disease 2617004C4310769OMIM134321082608648
HP:0003581HP:0003581Adult onset0SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM128110947158378
HP:0003581HP:0003581Adult onset0SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM127810990103220
HP:0003581HP:0003581Adult onset0SMCHD1 CL E G H23347158901Facioscapulohumeral muscular dystrophy 2158901C1834671OMIM1101129090614982
HP:0003581HP:0003581Adult onset0SMN1 CL E G H6606271150Spinal muscular atrophy type 4271150C1838230OMIM120811117600354
HP:0003581HP:0003581Adult onset0SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1216511226610844
HP:0003581HP:0003581Adult onset0SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM177811237602783
HP:0003581HP:0003581Adult onset0STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM152211386605921
HP:0003581HP:0003581Adult onset0SYNE1 CL E G H23345610743Spinocerebellar ataxia, autosomal recessive 8610743C1853116OMIM1459817089608441
HP:0003581HP:0003581Adult onset0TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM134511535313650
HP:0003581HP:0003581Adult onset0TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM129411584604834
HP:0003581HP:0003581Adult onset0TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM130711758602498
HP:0003581HP:0003581Adult onset0TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM128916255613900
HP:0003581HP:0003581Adult onset0TIA1 CL E G H7072604454Welander distal myopathy604454C0221054OMIM119011802603518
HP:0003581HP:0003581Adult onset0TMEM43 CL E G H79188614302Emery-Dreifuss muscular dystrophy 7, autosomal dominant614302C3553060OMIM174028472612048
HP:0003581HP:0003581Adult onset0TNFRSF13C CL E G H115650613494Common variable immunodeficiency 4613494C3150739OMIM113817755606269
HP:0003581HP:0003581Adult onset0TNPO3 CL E G H23534608423Limb-girdle muscular dystrophy, type 1F608423C1842062OMIM143717103610032
HP:0003581HP:0003581Adult onset0TOP3A CL E G H7156618098PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5618098CN253818OMIM119911992601243
HP:0003581HP:0003581Adult onset0TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM132712269606609
HP:0003581HP:0003581Adult onset0TRPC3 CL E G H7222616410Spinocerebellar ataxia 41616410C4225158OMIM14412335602345
HP:0003581HP:0003581Adult onset0TSC1 CL E G H7248607341Focal cortical dysplasia type II607341C1846385OMIM1369012362605284
HP:0003581HP:0003581Adult onset0TSC2 CL E G H7249607341Focal cortical dysplasia type II607341C1846385OMIM1849512363191092
HP:0003581HP:0003581Adult onset0TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM123419141611695
HP:0003581HP:0003581Adult onset0TTN CL E G H7273600334Distal myopathy Markesbery-Griggs type600334C1838244OMIM12285912403188840
HP:0003581HP:0003581Adult onset0TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM134112405176300
HP:0003581HP:0003581Adult onset0TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM13081160606075
HP:0003581HP:0003581Adult onset0TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM13081160606075
HP:0003581HP:0003581Adult onset0UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM122312509300264
HP:0003581HP:0003581Adult onset0VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM139023595608877
HP:0003581HP:0003581Adult onset0WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM152728984610657
HP:0003581HP:0003581Adult onset0XPR1 CL E G H9213616413Basal ganglia calcification, idiopathic, 6616413C4225335OMIM116712827605237
HP:0003581HP:0003581Adult onset0ZNF687 CL E G H57592616833Paget disease of bone 6616833C4085250OMIM15029277610568
HP:0003581HP:0003596Middle age onset1ADRA2B CL E G H151607876Epilepsy, familial adult myoclonic 2607876C1842852OMIM180282104260
HP:0003581HP:0003584Late onset1ADRA2B CL E G H151607876Epilepsy, familial adult myoclonic 2607876C1842852OMIM180282104260
HP:0003581HP:0011462Young adult onset1ADRA2B CL E G H151607876Epilepsy, familial adult myoclonic 2607876C1842852OMIM180282104260
HP:0003581HP:0003596Middle age onset1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0003581HP:0003584Late onset1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0003581HP:0011462Young adult onset1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0003581HP:0003596Middle age onset1ANKH CL E G H56172118600Chondrocalcinosis 2118600C0856830OMIM145715492605145
HP:0003581HP:0003584Late onset1ANKH CL E G H56172118600Chondrocalcinosis 2118600C0856830OMIM145715492605145
HP:0003581HP:0011462Young adult onset1ANKH CL E G H56172118600Chondrocalcinosis 2118600C0856830OMIM145715492605145
HP:0003581HP:0003596Middle age onset1ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM197227337608662
HP:0003581HP:0003584Late onset1ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM197227337608662
HP:0003581HP:0011462Young adult onset1ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM197227337608662
HP:0003581HP:0003596Middle age onset1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0003581HP:0003584Late onset1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0003581HP:0011462Young adult onset1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0003581HP:0003596Middle age onset1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1556644313700
HP:0003581HP:0003584Late onset1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1556644313700
HP:0003581HP:0011462Young adult onset1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1556644313700
HP:0003581HP:0003596Middle age onset1ARHGEF10 CL E G H9639608236Slowed nerve conduction velocity, autosomal dominant608236C1842357OMIM151114103608136
HP:0003581HP:0003584Late onset1ARHGEF10 CL E G H9639608236Slowed nerve conduction velocity, autosomal dominant608236C1842357OMIM151114103608136
HP:0003581HP:0011462Young adult onset1ARHGEF10 CL E G H9639608236Slowed nerve conduction velocity, autosomal dominant608236C1842357OMIM151114103608136
HP:0003581HP:0003596Middle age onset1ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM140811231606439
HP:0003581HP:0003584Late onset1ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM140811231606439
HP:0003581HP:0011462Young adult onset1ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM140811231606439
HP:0003581HP:0003596Middle age onset1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0003581HP:0003584Late onset1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0003581HP:0011462Young adult onset1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0003581HP:0003596Middle age onset1C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117328337614260
HP:0003581HP:0003584Late onset1C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117328337614260
HP:0003581HP:0011462Young adult onset1C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM117328337614260
HP:0003581HP:0003596Middle age onset1CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM14691389601012
HP:0003581HP:0003584Late onset1CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM14691389601012
HP:0003581HP:0011462Young adult onset1CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM14691389601012
HP:0003581HP:0003584Late onset1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM112881480114240
HP:0003581HP:0011462Young adult onset1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM112881480114240
HP:0003581HP:0003596Middle age onset1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM112881480114240
HP:0003581HP:0003596Middle age onset1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13901529601253
HP:0003581HP:0003584Late onset1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13901529601253
HP:0003581HP:0011462Young adult onset1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13901529601253
HP:0003581HP:0003596Middle age onset1CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM127919967611204
HP:0003581HP:0003584Late onset1CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM127919967611204
HP:0003581HP:0011462Young adult onset1CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM127919967611204
HP:0003581HP:0003596Middle age onset1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM114124537609512
HP:0003581HP:0003584Late onset1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM114124537609512
HP:0003581HP:0011462Young adult onset1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM114124537609512
HP:0003581HP:0003596Middle age onset1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM15532077606725
HP:0003581HP:0003584Late onset1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM15532077606725
HP:0003581HP:0011462Young adult onset1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM15532077606725
HP:0003581HP:0003596Middle age onset1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM113318540608846
HP:0003581HP:0003584Late onset1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM113318540608846
HP:0003581HP:0011462Young adult onset1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM113318540608846
HP:0003581HP:0003596Middle age onset1CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM12302389123590
HP:0003581HP:0003584Late onset1CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM12302389123590
HP:0003581HP:0011462Young adult onset1CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM12302389123590
HP:0003581HP:0003596Middle age onset1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0003581HP:0003584Late onset1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0003581HP:0011462Young adult onset1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0003581HP:0003596Middle age onset1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM11822531603539
HP:0003581HP:0003584Late onset1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM11822531603539
HP:0003581HP:0011462Young adult onset1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM11822531603539
HP:0003581HP:0003596Middle age onset1CYLD CL E G H1540132700Cylindromatosis, familial132700C1851526OMIM12522584605018
HP:0003581HP:0003584Late onset1CYLD CL E G H1540132700Cylindromatosis, familial132700C1851526OMIM12522584605018
HP:0003581HP:0011462Young adult onset1CYLD CL E G H1540132700Cylindromatosis, familial132700C1851526OMIM12522584605018
HP:0003581HP:0003596Middle age onset1CYLD CL E G H1540601606Familial multiple trichoepitheliomata601606C1275122OMIM12522584605018
HP:0003581HP:0003584Late onset1CYLD CL E G H1540601606Familial multiple trichoepitheliomata601606C1275122OMIM12522584605018
HP:0003581HP:0011462Young adult onset1CYLD CL E G H1540601606Familial multiple trichoepitheliomata601606C1275122OMIM12522584605018
HP:0003581HP:0003596Middle age onset1CYLD CL E G H1540605041Spiegler-Brooke syndrome605041C1857941OMIM12522584605018
HP:0003581HP:0003584Late onset1CYLD CL E G H1540605041Spiegler-Brooke syndrome605041C1857941OMIM12522584605018
HP:0003581HP:0011462Young adult onset1CYLD CL E G H1540605041Spiegler-Brooke syndrome605041C1857941OMIM12522584605018
HP:0003581HP:0003596Middle age onset1DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM18582711601143
HP:0003581HP:0003584Late onset1DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM18582711601143
HP:0003581HP:0011462Young adult onset1DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM18582711601143
HP:0003581HP:0003596Middle age onset1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11672858601465
HP:0003581HP:0003584Late onset1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11672858601465
HP:0003581HP:0011462Young adult onset1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11672858601465
HP:0003581HP:0003596Middle age onset1DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM173702928300377
HP:0003581HP:0003584Late onset1DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM173702928300377
HP:0003581HP:0011462Young adult onset1DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM173702928300377
HP:0003581HP:0003584Late onset1DNAJB11 CL E G H51726618061POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE618061CN252647OMIM111114889611341
HP:0003581HP:0011462Young adult onset1DNAJB11 CL E G H51726618061POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE618061CN252647OMIM111114889611341
HP:0003581HP:0003596Middle age onset1DNAJB11 CL E G H51726618061POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE618061CN252647OMIM111114889611341
HP:0003581HP:0003596Middle age onset1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM141114888611332
HP:0003581HP:0003584Late onset1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM141114888611332
HP:0003581HP:0011462Young adult onset1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM141114888611332
HP:0003581HP:0003596Middle age onset1DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM139316235611203
HP:0003581HP:0003584Late onset1DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM139316235611203
HP:0003581HP:0011462Young adult onset1DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM139316235611203
HP:0003581HP:0003596Middle age onset1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM19952976126375
HP:0003581HP:0003584Late onset1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM19952976126375
HP:0003581HP:0011462Young adult onset1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM19952976126375
HP:0003581HP:0003596Middle age onset1DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM1603007605951
HP:0003581HP:0003584Late onset1DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM1603007605951
HP:0003581HP:0011462Young adult onset1DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM1603007605951
HP:0003581HP:0003596Middle age onset1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM127363097603009
HP:0003581HP:0003584Late onset1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM127363097603009
HP:0003581HP:0011462Young adult onset1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM127363097603009
HP:0003581HP:0003596Middle age onset1EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM12043214130610
HP:0003581HP:0003584Late onset1EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM12043214130610
HP:0003581HP:0011462Young adult onset1EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM12043214130610
HP:0003581HP:0003596Middle age onset1ENO3 CL E G H2027612932Glycogen storage disease type 13612932C2752027OMIM11753354131370
HP:0003581HP:0003584Late onset1ENO3 CL E G H2027612932Glycogen storage disease type 13612932C2752027OMIM11753354131370
HP:0003581HP:0011462Young adult onset1ENO3 CL E G H2027612932Glycogen storage disease type 13612932C2752027OMIM11753354131370
HP:0003581HP:0003596Middle age onset1ERBB4 CL E G H2066615515Amyotrophic lateral sclerosis 19615515C3715155OMIM13213432600543
HP:0003581HP:0003584Late onset1ERBB4 CL E G H2066615515Amyotrophic lateral sclerosis 19615515C3715155OMIM13213432600543
HP:0003581HP:0011462Young adult onset1ERBB4 CL E G H2066615515Amyotrophic lateral sclerosis 19615515C3715155OMIM13213432600543
HP:0003581HP:0003596Middle age onset1F5 CL E G H2153188055Thrombophilia due to activated protein C resistance188055C1861171OMIM15133542612309
HP:0003581HP:0003584Late onset1F5 CL E G H2153188055Thrombophilia due to activated protein C resistance188055C1861171OMIM15133542612309
HP:0003581HP:0011462Young adult onset1F5 CL E G H2153188055Thrombophilia due to activated protein C resistance188055C1861171OMIM15133542612309
HP:0003581HP:0003584Late onset1FAT2 CL E G H2196617769SPINOCEREBELLAR ATAXIA 45617769C4540400OMIM11883596604269
HP:0003581HP:0011462Young adult onset1FAT2 CL E G H2196617769SPINOCEREBELLAR ATAXIA 45617769C4540400OMIM11883596604269
HP:0003581HP:0003596Middle age onset1FAT2 CL E G H2196617769SPINOCEREBELLAR ATAXIA 45617769C4540400OMIM11883596604269
HP:0003581HP:0003596Middle age onset1FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM15173702300163
HP:0003581HP:0003584Late onset1FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM15173702300163
HP:0003581HP:0011462Young adult onset1FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM15173702300163
HP:0003581HP:0003596Middle age onset1FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM134553756102565
HP:0003581HP:0003584Late onset1FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM134553756102565
HP:0003581HP:0011462Young adult onset1FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM134553756102565
HP:0003581HP:0003596Middle age onset1FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13383775309550
HP:0003581HP:0003584Late onset1FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13383775309550
HP:0003581HP:0011462Young adult onset1FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13383775309550
HP:0003581HP:0003596Middle age onset1GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14177606463
HP:0003581HP:0003584Late onset1GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14177606463
HP:0003581HP:0011462Young adult onset1GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14177606463
HP:0003581HP:0003596Middle age onset1GBE1 CL E G H2632263570Polyglucosan body disease, adult263570C1849722OMIM16004180607839
HP:0003581HP:0003584Late onset1GBE1 CL E G H2632263570Polyglucosan body disease, adult263570C1849722OMIM16004180607839
HP:0003581HP:0011462Young adult onset1GBE1 CL E G H2632263570Polyglucosan body disease, adult263570C1849722OMIM16004180607839
HP:0003581HP:0003596Middle age onset1GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM14454392139320
HP:0003581HP:0003584Late onset1GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM14454392139320
HP:0003581HP:0011462Young adult onset1GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM14454392139320
HP:0003581HP:0003596Middle age onset1GNE CL E G H10020605820Nonaka myopathy605820C1853926OMIM178323657603824
HP:0003581HP:0003584Late onset1GNE CL E G H10020605820Nonaka myopathy605820C1853926OMIM178323657603824
HP:0003581HP:0011462Young adult onset1GNE CL E G H10020605820Nonaka myopathy605820C1853926OMIM178323657603824
HP:0003581HP:0003596Middle age onset1GSN CL E G H2934105120Meretoja syndrome105120C1622345OMIM14124620137350
HP:0003581HP:0003584Late onset1GSN CL E G H2934105120Meretoja syndrome105120C1622345OMIM14124620137350
HP:0003581HP:0011462Young adult onset1GSN CL E G H2934105120Meretoja syndrome105120C1622345OMIM14124620137350
HP:0003581HP:0003596Middle age onset1HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM12485037607137
HP:0003581HP:0003584Late onset1HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM12485037607137
HP:0003581HP:0011462Young adult onset1HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM12485037607137
HP:0003581HP:0003596Middle age onset1HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13295246602195
HP:0003581HP:0003584Late onset1HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13295246602195
HP:0003581HP:0011462Young adult onset1HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM13295246602195
HP:0003581HP:0003596Middle age onset1ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM111346180147265
HP:0003581HP:0003584Late onset1ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM111346180147265
HP:0003581HP:0011462Young adult onset1ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM111346180147265
HP:0003581HP:0003596Middle age onset1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM11696637150340
HP:0003581HP:0003584Late onset1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM11696637150340
HP:0003581HP:0011462Young adult onset1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM11696637150340
HP:0003581HP:0003596Middle age onset1MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15146893157140
HP:0003581HP:0003584Late onset1MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15146893157140
HP:0003581HP:0011462Young adult onset1MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15146893157140
HP:0003581HP:0003596Middle age onset1MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM15146893157140
HP:0003581HP:0003584Late onset1MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM15146893157140
HP:0003581HP:0011462Young adult onset1MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM15146893157140
HP:0003581HP:0003596Middle age onset1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM13336912164015
HP:0003581HP:0003584Late onset1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM13336912164015
HP:0003581HP:0011462Young adult onset1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM13336912164015
HP:0003581HP:0003596Middle age onset1MED25 CL E G H81857605589Charcot-Marie-Tooth disease type 2B2605589C1854150OMIM152528845610197
HP:0003581HP:0003584Late onset1MED25 CL E G H81857605589Charcot-Marie-Tooth disease type 2B2605589C1854150OMIM152528845610197
HP:0003581HP:0011462Young adult onset1MED25 CL E G H81857605589Charcot-Marie-Tooth disease type 2B2605589C1854150OMIM152528845610197
HP:0003581HP:0003596Middle age onset1MME CL E G H4311617017Charcot-Marie-Tooth disease, axonal, type 2T617017C4015635OMIM14227154120520
HP:0003581HP:0003584Late onset1MME CL E G H4311617017Charcot-Marie-Tooth disease, axonal, type 2T617017C4015635OMIM14227154120520
HP:0003581HP:0011462Young adult onset1MME CL E G H4311617017Charcot-Marie-Tooth disease, axonal, type 2T617017C4015635OMIM14227154120520
HP:0003581HP:0003596Middle age onset1MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM14227154120520
HP:0003581HP:0003584Late onset1MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM14227154120520
HP:0003581HP:0011462Young adult onset1MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM14227154120520
HP:0003581HP:0003596Middle age onset1MN1 CL E G H4330607174Meningioma, familial607174C1333989OMIM11007180156100
HP:0003581HP:0003584Late onset1MN1 CL E G H4330607174Meningioma, familial607174C1333989OMIM11007180156100
HP:0003581HP:0011462Young adult onset1MN1 CL E G H4330607174Meningioma, familial607174C1333989OMIM11007180156100
HP:0003581HP:0003596Middle age onset1MTOR CL E G H2475607341Focal cortical dysplasia type II607341C1846385OMIM116713942601231
HP:0003581HP:0003584Late onset1MTOR CL E G H2475607341Focal cortical dysplasia type II607341C1846385OMIM116713942601231
HP:0003581HP:0011462Young adult onset1MTOR CL E G H2475607341Focal cortical dysplasia type II607341C1846385OMIM116713942601231
HP:0003581HP:0003596Middle age onset1MUC1 CL E G H4582174000Medullary cystic kidney disease 1174000C1868139OMIM1257508158340
HP:0003581HP:0003584Late onset1MUC1 CL E G H4582174000Medullary cystic kidney disease 1174000C1868139OMIM1257508158340
HP:0003581HP:0011462Young adult onset1MUC1 CL E G H4582174000Medullary cystic kidney disease 1174000C1868139OMIM1257508158340
HP:0003581HP:0003596Middle age onset1MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM129512399604103
HP:0003581HP:0003584Late onset1MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM129512399604103
HP:0003581HP:0011462Young adult onset1MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM129512399604103
HP:0003581HP:0003596Middle age onset1NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM11837631104170
HP:0003581HP:0003584Late onset1NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM11837631104170
HP:0003581HP:0011462Young adult onset1NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM11837631104170
HP:0003581HP:0003596Middle age onset1NF2 CL E G H4771607174Meningioma, familial607174C1333989OMIM115187773607379
HP:0003581HP:0003584Late onset1NF2 CL E G H4771607174Meningioma, familial607174C1333989OMIM115187773607379
HP:0003581HP:0011462Young adult onset1NF2 CL E G H4771607174Meningioma, familial607174C1333989OMIM115187773607379
HP:0003581HP:0003596Middle age onset1NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1437869605235
HP:0003581HP:0003584Late onset1NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1437869605235
HP:0003581HP:0011462Young adult onset1NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1437869605235
HP:0003581HP:0003596Middle age onset1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM111337883600276
HP:0003581HP:0003584Late onset1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM111337883600276
HP:0003581HP:0011462Young adult onset1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM111337883600276
HP:0003581HP:0003596Middle age onset1OSMR CL E G H9180105250Primary localized cutaneous amyloidosis 1105250C0268398OMIM1588507601743
HP:0003581HP:0003584Late onset1OSMR CL E G H9180105250Primary localized cutaneous amyloidosis 1105250C0268398OMIM1588507601743
HP:0003581HP:0011462Young adult onset1OSMR CL E G H9180105250Primary localized cutaneous amyloidosis 1105250C0268398OMIM1588507601743
HP:0003581HP:0003596Middle age onset1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1638565602279
HP:0003581HP:0003584Late onset1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1638565602279
HP:0003581HP:0011462Young adult onset1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1638565602279
HP:0003581HP:0003596Middle age onset1PARK7 CL E G H11315606324Parkinson disease 7606324C1853445OMIM116016369602533
HP:0003581HP:0003584Late onset1PARK7 CL E G H11315606324Parkinson disease 7606324C1853445OMIM116016369602533
HP:0003581HP:0011462Young adult onset1PARK7 CL E G H11315606324Parkinson disease 7606324C1853445OMIM116016369602533
HP:0003581HP:0003596Middle age onset1PARN CL E G H5073616371Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4616371C4225347OMIM14438609604212
HP:0003581HP:0003584Late onset1PARN CL E G H5073616371Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4616371C4225347OMIM14438609604212
HP:0003581HP:0011462Young adult onset1PARN CL E G H5073616371Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4616371C4225347OMIM14438609604212
HP:0003581HP:0003596Middle age onset1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11058800190040
HP:0003581HP:0003584Late onset1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11058800190040
HP:0003581HP:0011462Young adult onset1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11058800190040
HP:0003581HP:0003596Middle age onset1PDGFB CL E G H5155607174Meningioma, familial607174C1333989OMIM11058800190040
HP:0003581HP:0003584Late onset1PDGFB CL E G H5155607174Meningioma, familial607174C1333989OMIM11058800190040
HP:0003581HP:0011462Young adult onset1PDGFB CL E G H5155607174Meningioma, familial607174C1333989OMIM11058800190040
HP:0003581HP:0003596Middle age onset1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM13458804173410
HP:0003581HP:0003584Late onset1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM13458804173410
HP:0003581HP:0011462Young adult onset1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM13458804173410
HP:0003581HP:0003596Middle age onset1PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM19758975171834
HP:0003581HP:0003584Late onset1PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM19758975171834
HP:0003581HP:0011462Young adult onset1PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM19758975171834
HP:0003581HP:0003584Late onset1PLD3 CL E G H23646617770SPINOCEREBELLAR ATAXIA 46617770C4540404OMIM12217158615698
HP:0003581HP:0011462Young adult onset1PLD3 CL E G H23646617770SPINOCEREBELLAR ATAXIA 46617770C4540404OMIM12217158615698
HP:0003581HP:0003596Middle age onset1PLD3 CL E G H23646617770SPINOCEREBELLAR ATAXIA 46617770C4540404OMIM12217158615698
HP:0003581HP:0003596Middle age onset1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM144330802609059
HP:0003581HP:0003584Late onset1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM144330802609059
HP:0003581HP:0011462Young adult onset1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM144330802609059
HP:0003581HP:0003596Middle age onset1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM119179179174763
HP:0003581HP:0003584Late onset1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM119179179174763
HP:0003581HP:0011462Young adult onset1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM119179179174763
HP:0003581HP:0003596Middle age onset1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM119179179174763
HP:0003581HP:0003584Late onset1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM119179179174763
HP:0003581HP:0011462Young adult onset1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM119179179174763
HP:0003581HP:0003596Middle age onset1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM119179179174763
HP:0003581HP:0003584Late onset1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM119179179174763
HP:0003581HP:0011462Young adult onset1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM119179179174763
HP:0003581HP:0003596Middle age onset1POLG2 CL E G H11232610131Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4610131C1864668OMIM12409180604983
HP:0003581HP:0003584Late onset1POLG2 CL E G H11232610131Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4610131C1864668OMIM12409180604983
HP:0003581HP:0011462Young adult onset1POLG2 CL E G H11232610131Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4610131C1864668OMIM12409180604983
HP:0003581HP:0003596Middle age onset1PRKCSH CL E G H5589174050Polycystic liver disease 1174050C4310613OMIM12119411177060
HP:0003581HP:0003584Late onset1PRKCSH CL E G H5589174050Polycystic liver disease 1174050C4310613OMIM12119411177060
HP:0003581HP:0011462Young adult onset1PRKCSH CL E G H5589174050Polycystic liver disease 1174050C4310613OMIM12119411177060
HP:0003581HP:0003596Middle age onset1PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM16558607602544
HP:0003581HP:0003584Late onset1PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM16558607602544
HP:0003581HP:0011462Young adult onset1PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM16558607602544
HP:0003581HP:0003596Middle age onset1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11649449176640
HP:0003581HP:0003584Late onset1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11649449176640
HP:0003581HP:0011462Young adult onset1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11649449176640
HP:0003581HP:0003596Middle age onset1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11649449176640
HP:0003581HP:0003584Late onset1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11649449176640
HP:0003581HP:0011462Young adult onset1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11649449176640
HP:0003581HP:0003596Middle age onset1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM14529508104311
HP:0003581HP:0003584Late onset1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM14529508104311
HP:0003581HP:0011462Young adult onset1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM14529508104311
HP:0003581HP:0003596Middle age onset1PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM127509588601728
HP:0003581HP:0003584Late onset1PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM127509588601728
HP:0003581HP:0011462Young adult onset1PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM127509588601728
HP:0003581HP:0003596Middle age onset1RNF170 CL E G H81790608984Ataxia, sensory, autosomal dominant608984C1837015OMIM16825358614649
HP:0003581HP:0003584Late onset1RNF170 CL E G H81790608984Ataxia, sensory, autosomal dominant608984C1837015OMIM16825358614649
HP:0003581HP:0011462Young adult onset1RNF170 CL E G H81790608984Ataxia, sensory, autosomal dominant608984C1837015OMIM16825358614649
HP:0003581HP:0003596Middle age onset1RTEL1 CL E G H51750616373Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3616373C4225346OMIM1200515888608833
HP:0003581HP:0003584Late onset1RTEL1 CL E G H51750616373Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3616373C4225346OMIM1200515888608833
HP:0003581HP:0011462Young adult onset1RTEL1 CL E G H51750616373Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3616373C4225346OMIM1200515888608833
HP:0003581HP:0003596Middle age onset1SAMD12 CL E G H401474601068Epilepsy, familial adult myoclonic, 1601068C1832841OMIM16231750618073
HP:0003581HP:0003584Late onset1SAMD12 CL E G H401474601068Epilepsy, familial adult myoclonic, 1601068C1832841OMIM16231750618073
HP:0003581HP:0011462Young adult onset1SAMD12 CL E G H401474601068Epilepsy, familial adult myoclonic, 1601068C1832841OMIM16231750618073
HP:0003581HP:0003596Middle age onset1SCN10A CL E G H6336615551Episodic pain syndrome, familial, 2615551C3809893OMIM1153910582604427
HP:0003581HP:0003584Late onset1SCN10A CL E G H6336615551Episodic pain syndrome, familial, 2615551C3809893OMIM1153910582604427
HP:0003581HP:0011462Young adult onset1SCN10A CL E G H6336615551Episodic pain syndrome, familial, 2615551C3809893OMIM1153910582604427
HP:0003581HP:0003596Middle age onset1SDHAF2 CL E G H54949601650Paragangliomas 2601650C1866552OMIM141226034613019
HP:0003581HP:0003584Late onset1SDHAF2 CL E G H54949601650Paragangliomas 2601650C1866552OMIM141226034613019
HP:0003581HP:0011462Young adult onset1SDHAF2 CL E G H54949601650Paragangliomas 2601650C1866552OMIM141226034613019
HP:0003581HP:0003596Middle age onset1SDHB CL E G H6390115310Paragangliomas 4115310C1861848OMIM1109910681185470
HP:0003581HP:0003584Late onset1SDHB CL E G H6390115310Paragangliomas 4115310C1861848OMIM1109910681185470
HP:0003581HP:0011462Young adult onset1SDHB CL E G H6390115310Paragangliomas 4115310C1861848OMIM1109910681185470
HP:0003581HP:0003596Middle age onset1SDHC CL E G H6391605373Paragangliomas 3605373C1854336OMIM170210682602413
HP:0003581HP:0003584Late onset1SDHC CL E G H6391605373Paragangliomas 3605373C1854336OMIM170210682602413
HP:0003581HP:0011462Young adult onset1SDHC CL E G H6391605373Paragangliomas 3605373C1854336OMIM170210682602413
HP:0003581HP:0003596Middle age onset1SDHD CL E G H6392168000Paragangliomas 1168000C1868633OMIM160710683602690
HP:0003581HP:0003584Late onset1SDHD CL E G H6392168000Paragangliomas 1168000C1868633OMIM160710683602690
HP:0003581HP:0011462Young adult onset1SDHD CL E G H6392168000Paragangliomas 1168000C1868633OMIM160710683602690
HP:0003581HP:0003596Middle age onset1SEC63 CL E G H11231617004Polycystic liver disease 2617004C4310769OMIM134321082608648
HP:0003581HP:0003584Late onset1SEC63 CL E G H11231617004Polycystic liver disease 2617004C4310769OMIM134321082608648
HP:0003581HP:0011462Young adult onset1SEC63 CL E G H11231617004Polycystic liver disease 2617004C4310769OMIM134321082608648
HP:0003581HP:0003596Middle age onset1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM128110947158378
HP:0003581HP:0003584Late onset1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM128110947158378
HP:0003581HP:0011462Young adult onset1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM128110947158378
HP:0003581HP:0003596Middle age onset1SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM127810990103220
HP:0003581HP:0003584Late onset1SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM127810990103220
HP:0003581HP:0011462Young adult onset1SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM127810990103220
HP:0003581HP:0003596Middle age onset1SMCHD1 CL E G H23347158901Facioscapulohumeral muscular dystrophy 2158901C1834671OMIM1101129090614982
HP:0003581HP:0003584Late onset1SMCHD1 CL E G H23347158901Facioscapulohumeral muscular dystrophy 2158901C1834671OMIM1101129090614982
HP:0003581HP:0011462Young adult onset1SMCHD1 CL E G H23347158901Facioscapulohumeral muscular dystrophy 2158901C1834671OMIM1101129090614982
HP:0003581HP:0003596Middle age onset1SMN1 CL E G H6606271150Spinal muscular atrophy type 4271150C1838230OMIM120811117600354
HP:0003581HP:0003584Late onset1SMN1 CL E G H6606271150Spinal muscular atrophy type 4271150C1838230OMIM120811117600354
HP:0003581HP:0011462Young adult onset1SMN1 CL E G H6606271150Spinal muscular atrophy type 4271150C1838230OMIM120811117600354
HP:0003581HP:0003596Middle age onset1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1216511226610844
HP:0003581HP:0003584Late onset1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1216511226610844
HP:0003581HP:0011462Young adult onset1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1216511226610844
HP:0003581HP:0003596Middle age onset1SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM177811237602783
HP:0003581HP:0003584Late onset1SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM177811237602783
HP:0003581HP:0011462Young adult onset1SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM177811237602783
HP:0003581HP:0003596Middle age onset1STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM152211386605921
HP:0003581HP:0003584Late onset1STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM152211386605921
HP:0003581HP:0011462Young adult onset1STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM152211386605921
HP:0003581HP:0003596Middle age onset1SYNE1 CL E G H23345610743Spinocerebellar ataxia, autosomal recessive 8610743C1853116OMIM1459817089608441
HP:0003581HP:0003584Late onset1SYNE1 CL E G H23345610743Spinocerebellar ataxia, autosomal recessive 8610743C1853116OMIM1459817089608441
HP:0003581HP:0011462Young adult onset1SYNE1 CL E G H23345610743Spinocerebellar ataxia, autosomal recessive 8610743C1853116OMIM1459817089608441
HP:0003581HP:0003596Middle age onset1TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM134511535313650
HP:0003581HP:0003584Late onset1TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM134511535313650
HP:0003581HP:0011462Young adult onset1TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM134511535313650
HP:0003581HP:0003596Middle age onset1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM129411584604834
HP:0003581HP:0003584Late onset1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM129411584604834
HP:0003581HP:0011462Young adult onset1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM129411584604834
HP:0003581HP:0003596Middle age onset1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM130711758602498
HP:0003581HP:0003584Late onset1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM130711758602498
HP:0003581HP:0011462Young adult onset1TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM130711758602498
HP:0003581HP:0003596Middle age onset1TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM128916255613900
HP:0003581HP:0003584Late onset1TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM128916255613900
HP:0003581HP:0011462Young adult onset1TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM128916255613900
HP:0003581HP:0003596Middle age onset1TIA1 CL E G H7072604454Welander distal myopathy604454C0221054OMIM119011802603518
HP:0003581HP:0003584Late onset1TIA1 CL E G H7072604454Welander distal myopathy604454C0221054OMIM119011802603518
HP:0003581HP:0011462Young adult onset1TIA1 CL E G H7072604454Welander distal myopathy604454C0221054OMIM119011802603518
HP:0003581HP:0003596Middle age onset1TMEM43 CL E G H79188614302Emery-Dreifuss muscular dystrophy 7, autosomal dominant614302C3553060OMIM174028472612048
HP:0003581HP:0003584Late onset1TMEM43 CL E G H79188614302Emery-Dreifuss muscular dystrophy 7, autosomal dominant614302C3553060OMIM174028472612048
HP:0003581HP:0011462Young adult onset1TMEM43 CL E G H79188614302Emery-Dreifuss muscular dystrophy 7, autosomal dominant614302C3553060OMIM174028472612048
HP:0003581HP:0003596Middle age onset1TNFRSF13C CL E G H115650613494Common variable immunodeficiency 4613494C3150739OMIM113817755606269
HP:0003581HP:0003584Late onset1TNFRSF13C CL E G H115650613494Common variable immunodeficiency 4613494C3150739OMIM113817755606269
HP:0003581HP:0011462Young adult onset1TNFRSF13C CL E G H115650613494Common variable immunodeficiency 4613494C3150739OMIM113817755606269
HP:0003581HP:0003596Middle age onset1TNPO3 CL E G H23534608423Limb-girdle muscular dystrophy, type 1F608423C1842062OMIM143717103610032
HP:0003581HP:0003584Late onset1TNPO3 CL E G H23534608423Limb-girdle muscular dystrophy, type 1F608423C1842062OMIM143717103610032
HP:0003581HP:0011462Young adult onset1TNPO3 CL E G H23534608423Limb-girdle muscular dystrophy, type 1F608423C1842062OMIM143717103610032
HP:0003581HP:0003584Late onset1TOP3A CL E G H7156618098PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5618098CN253818OMIM119911992601243
HP:0003581HP:0011462Young adult onset1TOP3A CL E G H7156618098PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5618098CN253818OMIM119911992601243
HP:0003581HP:0003596Middle age onset1TOP3A CL E G H7156618098PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5618098CN253818OMIM119911992601243
HP:0003581HP:0003596Middle age onset1TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM132712269606609
HP:0003581HP:0003584Late onset1TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM132712269606609
HP:0003581HP:0011462Young adult onset1TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM132712269606609
HP:0003581HP:0003596Middle age onset1TRPC3 CL E G H7222616410Spinocerebellar ataxia 41616410C4225158OMIM14412335602345
HP:0003581HP:0003584Late onset1TRPC3 CL E G H7222616410Spinocerebellar ataxia 41616410C4225158OMIM14412335602345
HP:0003581HP:0011462Young adult onset1TRPC3 CL E G H7222616410Spinocerebellar ataxia 41616410C4225158OMIM14412335602345
HP:0003581HP:0003596Middle age onset1TSC1 CL E G H7248607341Focal cortical dysplasia type II607341C1846385OMIM1369012362605284
HP:0003581HP:0003584Late onset1TSC1 CL E G H7248607341Focal cortical dysplasia type II607341C1846385OMIM1369012362605284
HP:0003581HP:0011462Young adult onset1TSC1 CL E G H7248607341Focal cortical dysplasia type II607341C1846385OMIM1369012362605284
HP:0003581HP:0003596Middle age onset1TSC2 CL E G H7249607341Focal cortical dysplasia type II607341C1846385OMIM1849512363191092
HP:0003581HP:0003584Late onset1TSC2 CL E G H7249607341Focal cortical dysplasia type II607341C1846385OMIM1849512363191092
HP:0003581HP:0011462Young adult onset1TSC2 CL E G H7249607341Focal cortical dysplasia type II607341C1846385OMIM1849512363191092
HP:0003581HP:0003596Middle age onset1TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM123419141611695
HP:0003581HP:0003584Late onset1TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM123419141611695
HP:0003581HP:0011462Young adult onset1TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM123419141611695
HP:0003581HP:0003596Middle age onset1TTN CL E G H7273600334Distal myopathy Markesbery-Griggs type600334C1838244OMIM12285912403188840
HP:0003581HP:0003584Late onset1TTN CL E G H7273600334Distal myopathy Markesbery-Griggs type600334C1838244OMIM12285912403188840
HP:0003581HP:0011462Young adult onset1TTN CL E G H7273600334Distal myopathy Markesbery-Griggs type600334C1838244OMIM12285912403188840
HP:0003581HP:0003596Middle age onset1TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM134112405176300
HP:0003581HP:0003584Late onset1TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM134112405176300
HP:0003581HP:0011462Young adult onset1TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM134112405176300
HP:0003581HP:0003596Middle age onset1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM13081160606075
HP:0003581HP:0003584Late onset1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM13081160606075
HP:0003581HP:0011462Young adult onset1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM13081160606075
HP:0003581HP:0003596Middle age onset1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM13081160606075
HP:0003581HP:0003584Late onset1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM13081160606075
HP:0003581HP:0011462Young adult onset1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM13081160606075
HP:0003581HP:0003596Middle age onset1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM122312509300264
HP:0003581HP:0003584Late onset1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM122312509300264
HP:0003581HP:0011462Young adult onset1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM122312509300264
HP:0003581HP:0003596Middle age onset1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM139023595608877
HP:0003581HP:0003584Late onset1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM139023595608877
HP:0003581HP:0011462Young adult onset1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM139023595608877
HP:0003581HP:0003596Middle age onset1WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM152728984610657
HP:0003581HP:0003584Late onset1WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM152728984610657
HP:0003581HP:0011462Young adult onset1WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM152728984610657
HP:0003581HP:0003596Middle age onset1XPR1 CL E G H9213616413Basal ganglia calcification, idiopathic, 6616413C4225335OMIM116712827605237
HP:0003581HP:0003584Late onset1XPR1 CL E G H9213616413Basal ganglia calcification, idiopathic, 6616413C4225335OMIM116712827605237
HP:0003581HP:0011462Young adult onset1XPR1 CL E G H9213616413Basal ganglia calcification, idiopathic, 6616413C4225335OMIM116712827605237
HP:0003581HP:0003596Middle age onset1ZNF687 CL E G H57592616833Paget disease of bone 6616833C4085250OMIM15029277610568
HP:0003581HP:0003584Late onset1ZNF687 CL E G H57592616833Paget disease of bone 6616833C4085250OMIM15029277610568
HP:0003581HP:0011462Young adult onset1ZNF687 CL E G H57592616833Paget disease of bone 6616833C4085250OMIM15029277610568
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003581HP:0003581Adult onset0C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM0541243601269
HP:0003581HP:0003584Late onset1C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM0541243601269
HP:0003581HP:0011462Young adult onset1C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM0541243601269
HP:0003581HP:0003596Middle age onset1C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM0541243601269


Genes (135) :ABCC8 ACTG1 ADRA2B AKT1 AKT2 ANKH ANO5 APOE APTX AR ARHGEF10 ATL1 ATP1A3 ATXN1 BEAN1 C1QBP C9ORF72 C9orf72 CACNA1B CAPN3 CAV3 CCDC88C CHMP2B CLN6 COCH CPT1C CRYAB CSF1R CTSF CYLD DCTN1 DGUOK DMD DNAJB11 DNAJB6 DNAJC5 DNMT1 DPM3 DYSF EEF2 ENO3 ERBB4 F5 FAT2 FBXO7 FHL1 FLNC FMR1 GBA GBE1 GCK GNAS GNE GSN HJV HNF1B HNRNPDL HSPB1 ITPR1 LDB3 LMNB1 MAPT MATR3 MED25 MME MN1 MTOR MUC1 MYOT NAGA NF2 NOL3 NOTCH3 OSMR PABPN1 PARK7 PARN PAX4 PDGFB PDGFRB PIK3CA PLD3 PMVK PNPLA2 POLG POLG2 PPP1R3A PRKCSH PRKN PRNP PSEN1 PSEN2 PTEN RNF170 RTEL1 SAMD12 SCN10A SDHAF2 SDHB SDHC SDHD SEC63 SLC20A2 SLC25A4 SMCHD1 SMN1 SNCA SPG11 SPG7 STIM1 SYNE1 TAF1 TBK1 TFG TGM6 TIA1 TMEM43 TNFRSF13C TNNI3 TNPO3 TOP3A TREX1 TRPC3 TSC1 TSC2 TTBK2 TTN TTR TWNK UBQLN2 VPS13D VSX1 WASHC5 XPR1 ZNF687

Diseases (131) :607876 615109 118600 613319 208920 313200 608236 613708 164400 617713 105550 614860 618129 606072 616053 614696 204300 616282 608810 221820 615362 132700 601606 605041 607641 617070 300376 618061 603511 162350 604121 612937 254130 609306 612932 615515 188055 617769 300695 609524 300623 231000 263570 219080 605820 105120 609115 608634 606658 169500 260540 601104 606070 605589 617017 617018 607174 607341 174000 609200 609242 614937 125310 105250 164300 606324 616371 213600 615108 617770 610717 157640 258450 607459 610131 174050 600116 600072 137440 607822 158350 608984 616373 601068 615551 601650 115310 605373 168000 617004 609283 158901 271150 604360 607259 160565 610743 314250 616439 604484 613908 604454 614302 613494 608423 618098 192315 616410 604432 600334 105210 609286 300857 607317 603563 616413 616833 125853 604717 104310 606889 128235 117210 601369 260300 602390 609452 175800 605543 611880 148300
 

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