Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Clinical course (HP:0031797)

Parent Node:
Onset (HP:0003674)

..Starting node
..Adult onset (HP:0003581)

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:

........

Late onset (HP:0003584)

........

Middle age onset (HP:0003596)

........

Young adult onset (HP:0011462)

Sister Nodes:

Antenatal onset (HP:0030674)

Childhood onset (HP:0011463)

Congenital onset (HP:0003577)

Infantile onset (HP:0003593)

Juvenile onset (HP:0003621)

Neonatal onset (HP:0003623)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0003581	HP:0003581	Adult onset	0	ADRA2B CL E G H	151	607876	Epilepsy, familial adult myoclonic 2	607876	C1842852	OMIM	1	80	282	104260
HP:0003581	HP:0003581	Adult onset	0	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	634	391	164730
HP:0003581	HP:0003581	Adult onset	0	ANKH CL E G H	56172	118600	Chondrocalcinosis 2	118600	C0856830	OMIM	1	457	15492	605145
HP:0003581	HP:0003581	Adult onset	0	ANO5 CL E G H	203859	613319	Miyoshi muscular dystrophy 3	613319	C2750076	OMIM	1	972	27337	608662
HP:0003581	HP:0003581	Adult onset	0	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	288	15984	606350
HP:0003581	HP:0003581	Adult onset	0	AR CL E G H	367	313200	Bulbo-spinal atrophy X-linked	313200	C1839259	OMIM	1	556	644	313700
HP:0003581	HP:0003581	Adult onset	0	ARHGEF10 CL E G H	9639	608236	Slowed nerve conduction velocity, autosomal dominant	608236	C1842357	OMIM	1	511	14103	608136
HP:0003581	HP:0003581	Adult onset	0	ATL1 CL E G H	51062	613708	Hereditary sensory neuropathy type 1D	613708	C3150972	OMIM	1	408	11231	606439
HP:0003581	HP:0003581	Adult onset	0	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	86	10548	601556
HP:0003581	HP:0003581	Adult onset	0	C9orf72 CL E G H	203228	105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	105550	C1862937	OMIM	1	173	28337	614260
HP:0003581	HP:0003581	Adult onset	0	CACNA1B CL E G H	774	614860	Dystonia 23	614860	C3538999	OMIM	1	469	1389	601012
HP:0003581	HP:0003581	Adult onset	0	CAPN3 CL E G H	825	618129	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4	618129	CN253839	OMIM	1	1288	1480	114240
HP:0003581	HP:0003581	Adult onset	0	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	390	1529	601253
HP:0003581	HP:0003581	Adult onset	0	CCDC88C CL E G H	440193	616053	Spinocerebellar ataxia 40	616053	CN252333	OMIM	1	279	19967	611204
HP:0003581	HP:0003581	Adult onset	0	CHMP2B CL E G H	25978	614696	Amyotrophic lateral sclerosis 17	614696	C1836076	OMIM	1	141	24537	609512
HP:0003581	HP:0003581	Adult onset	0	CLN6 CL E G H	54982	204300	Adult neuronal ceroid lipofuscinosis	204300	C0022797	OMIM	1	553	2077	606725
HP:0003581	HP:0003581	Adult onset	0	CPT1C CL E G H	126129	616282	Spastic paraplegia 73, autosomal dominant	616282	C4225387	OMIM	1	133	18540	608846
HP:0003581	HP:0003581	Adult onset	0	CRYAB CL E G H	1410	608810	Alpha-B crystallinopathy	608810	C1837317	OMIM	1	230	2389	123590
HP:0003581	HP:0003581	Adult onset	0	CSF1R CL E G H	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	221820	C3711381	OMIM	1	518	2433	164770
HP:0003581	HP:0003581	Adult onset	0	CTSF CL E G H	8722	615362	Ceroid lipofuscinosis, neuronal, 13	615362	C3715049	OMIM	1	182	2531	603539
HP:0003581	HP:0003581	Adult onset	0	CYLD CL E G H	1540	132700	Cylindromatosis, familial	132700	C1851526	OMIM	1	252	2584	605018
HP:0003581	HP:0003581	Adult onset	0	CYLD CL E G H	1540	601606	Familial multiple trichoepitheliomata	601606	C1275122	OMIM	1	252	2584	605018
HP:0003581	HP:0003581	Adult onset	0	CYLD CL E G H	1540	605041	Spiegler-Brooke syndrome	605041	C1857941	OMIM	1	252	2584	605018
HP:0003581	HP:0003581	Adult onset	0	DCTN1 CL E G H	1639	607641	Distal hereditary motor neuronopathy type 7B	607641	C1843315	OMIM	1	858	2711	601143
HP:0003581	HP:0003581	Adult onset	0	DGUOK CL E G H	1716	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070	C4310733	OMIM	1	167	2858	601465
HP:0003581	HP:0003581	Adult onset	0	DMD CL E G H	1756	300376	Becker muscular dystrophy	300376	C0917713	OMIM	1	7370	2928	300377
HP:0003581	HP:0003581	Adult onset	0	DNAJB11 CL E G H	51726	618061	POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE	618061	CN252647	OMIM	1	111	14889	611341
HP:0003581	HP:0003581	Adult onset	0	DNAJB6 CL E G H	10049	603511	Limb-girdle muscular dystrophy, type 1E	603511	C3148763	OMIM	1	411	14888	611332
HP:0003581	HP:0003581	Adult onset	0	DNAJC5 CL E G H	80331	162350	Ceroid lipofuscinosis neuronal 4B autosomal dominant	162350	C1834207	OMIM	1	393	16235	611203
HP:0003581	HP:0003581	Adult onset	0	DNMT1 CL E G H	1786	604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	604121	C1858804	OMIM	1	995	2976	126375
HP:0003581	HP:0003581	Adult onset	0	DPM3 CL E G H	54344	612937	Congenital disorder of glycosylation type 1O	612937	C2752007	OMIM	1	60	3007	605951
HP:0003581	HP:0003581	Adult onset	0	DYSF CL E G H	8291	254130	Miyoshi muscular dystrophy 1	254130	C1850808	OMIM	1	2736	3097	603009
HP:0003581	HP:0003581	Adult onset	0	EEF2 CL E G H	1938	609306	Spinocerebellar ataxia 26	609306	C1836395	OMIM	1	204	3214	130610
HP:0003581	HP:0003581	Adult onset	0	ENO3 CL E G H	2027	612932	Glycogen storage disease type 13	612932	C2752027	OMIM	1	175	3354	131370
HP:0003581	HP:0003581	Adult onset	0	ERBB4 CL E G H	2066	615515	Amyotrophic lateral sclerosis 19	615515	C3715155	OMIM	1	321	3432	600543
HP:0003581	HP:0003581	Adult onset	0	F5 CL E G H	2153	188055	Thrombophilia due to activated protein C resistance	188055	C1861171	OMIM	1	513	3542	612309
HP:0003581	HP:0003581	Adult onset	0	FAT2 CL E G H	2196	617769	SPINOCEREBELLAR ATAXIA 45	617769	C4540400	OMIM	1	188	3596	604269
HP:0003581	HP:0003581	Adult onset	0	FHL1 CL E G H	2273	300695	Scapuloperoneal myopathy, X-linked dominant	300695	C2678061	OMIM	1	517	3702	300163
HP:0003581	HP:0003581	Adult onset	0	FLNC CL E G H	2318	609524	Myofibrillar myopathy, filamin C-related	609524	C1836050	OMIM	1	3455	3756	102565
HP:0003581	HP:0003581	Adult onset	0	FMR1 CL E G H	2332	300623	Fragile X tremor/ataxia syndrome	300623	C1839780	OMIM	1	338	3775	309550
HP:0003581	HP:0003581	Adult onset	0	GBA CL E G H	2629	231000	Subacute neuronopathic Gaucher's disease	231000	C0268251	OMIM	1		4177	606463
HP:0003581	HP:0003581	Adult onset	0	GBE1 CL E G H	2632	263570	Polyglucosan body disease, adult	263570	C1849722	OMIM	1	600	4180	607839
HP:0003581	HP:0003581	Adult onset	0	GNAS CL E G H	2778	219080	Cushing's syndrome	219080	C1857451	OMIM	1	445	4392	139320
HP:0003581	HP:0003581	Adult onset	0	GNE CL E G H	10020	605820	Nonaka myopathy	605820	C1853926	OMIM	1	783	23657	603824
HP:0003581	HP:0003581	Adult onset	0	GSN CL E G H	2934	105120	Meretoja syndrome	105120	C1622345	OMIM	1	412	4620	137350
HP:0003581	HP:0003581	Adult onset	0	HNRNPDL CL E G H	9987	609115	Limb-girdle muscular dystrophy, type 1G	609115	C1836765	OMIM	1	248	5037	607137
HP:0003581	HP:0003581	Adult onset	0	HSPB1 CL E G H	3315	608634	Distal hereditary motor neuronopathy type 2B	608634	C2608087	OMIM	1	329	5246	602195
HP:0003581	HP:0003581	Adult onset	0	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	1134	6180	147265
HP:0003581	HP:0003581	Adult onset	0	LMNB1 CL E G H	4001	169500	Leukodystrophy, adult-onset, autosomal dominant	169500	C1868512	OMIM	1	169	6637	150340
HP:0003581	HP:0003581	Adult onset	0	MAPT CL E G H	4137	260540	Parkinson-dementia syndrome	260540	C1850077	OMIM	1	514	6893	157140
HP:0003581	HP:0003581	Adult onset	0	MAPT CL E G H	4137	601104	Progressive supranuclear ophthalmoplegia	601104	C0038868	OMIM	1	514	6893	157140
HP:0003581	HP:0003581	Adult onset	0	MATR3 CL E G H	9782	606070	Amyotrophic lateral sclerosis 21	606070	C3807521	OMIM	1	333	6912	164015
HP:0003581	HP:0003581	Adult onset	0	MED25 CL E G H	81857	605589	Charcot-Marie-Tooth disease type 2B2	605589	C1854150	OMIM	1	525	28845	610197
HP:0003581	HP:0003581	Adult onset	0	MME CL E G H	4311	617017	Charcot-Marie-Tooth disease, axonal, type 2T	617017	C4015635	OMIM	1	422	7154	120520
HP:0003581	HP:0003581	Adult onset	0	MME CL E G H	4311	617018	Spinocerebellar ataxia 43	617018	C4310763	OMIM	1	422	7154	120520
HP:0003581	HP:0003581	Adult onset	0	MN1 CL E G H	4330	607174	Meningioma, familial	607174	C1333989	OMIM	1	100	7180	156100
HP:0003581	HP:0003581	Adult onset	0	MTOR CL E G H	2475	607341	Focal cortical dysplasia type II	607341	C1846385	OMIM	1	1671	3942	601231
HP:0003581	HP:0003581	Adult onset	0	MUC1 CL E G H	4582	174000	Medullary cystic kidney disease 1	174000	C1868139	OMIM	1	25	7508	158340
HP:0003581	HP:0003581	Adult onset	0	MYOT CL E G H	9499	609200	Myotilinopathy	609200	C1836607	OMIM	1	295	12399	604103
HP:0003581	HP:0003581	Adult onset	0	NAGA CL E G H	4668	609242	Kanzaki disease	609242	C1836522	OMIM	1	183	7631	104170
HP:0003581	HP:0003581	Adult onset	0	NF2 CL E G H	4771	607174	Meningioma, familial	607174	C1333989	OMIM	1	1518	7773	607379
HP:0003581	HP:0003581	Adult onset	0	NOL3 CL E G H	8996	614937	Myoclonus, familial cortical	614937	C3539916	OMIM	1	43	7869	605235
HP:0003581	HP:0003581	Adult onset	0	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	1	1133	7883	600276
HP:0003581	HP:0003581	Adult onset	0	OSMR CL E G H	9180	105250	Primary localized cutaneous amyloidosis 1	105250	C0268398	OMIM	1	58	8507	601743
HP:0003581	HP:0003581	Adult onset	0	PABPN1 CL E G H	8106	164300	Oculopharyngeal muscular dystrophy	164300	C0270952	OMIM	1	63	8565	602279
HP:0003581	HP:0003581	Adult onset	0	PARK7 CL E G H	11315	606324	Parkinson disease 7	606324	C1853445	OMIM	1	160	16369	602533
HP:0003581	HP:0003581	Adult onset	0	PARN CL E G H	5073	616371	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4	616371	C4225347	OMIM	1	443	8609	604212
HP:0003581	HP:0003581	Adult onset	0	PDGFB CL E G H	5155	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	105	8800	190040
HP:0003581	HP:0003581	Adult onset	0	PDGFB CL E G H	5155	607174	Meningioma, familial	607174	C1333989	OMIM	1	105	8800	190040
HP:0003581	HP:0003581	Adult onset	0	PDGFRB CL E G H	5159	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	345	8804	173410
HP:0003581	HP:0003581	Adult onset	0	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	975	8975	171834
HP:0003581	HP:0003581	Adult onset	0	PLD3 CL E G H	23646	617770	SPINOCEREBELLAR ATAXIA 46	617770	C4540404	OMIM	1	22	17158	615698
HP:0003581	HP:0003581	Adult onset	0	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	443	30802	609059
HP:0003581	HP:0003581	Adult onset	0	POLG CL E G H	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	157640	C1834846	OMIM	1	1917	9179	174763
HP:0003581	HP:0003581	Adult onset	0	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	1917	9179	174763
HP:0003581	HP:0003581	Adult onset	0	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	1917	9179	174763
HP:0003581	HP:0003581	Adult onset	0	POLG2 CL E G H	11232	610131	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	610131	C1864668	OMIM	1	240	9180	604983
HP:0003581	HP:0003581	Adult onset	0	PRKCSH CL E G H	5589	174050	Polycystic liver disease 1	174050	C4310613	OMIM	1	211	9411	177060
HP:0003581	HP:0003581	Adult onset	0	PRKN CL E G H	5071	600116	Parkinson disease 2	600116	C1868675	OMIM	1	655	8607	602544
HP:0003581	HP:0003581	Adult onset	0	PRNP CL E G H	5621	600072	Fatal familial insomnia	600072	C0206042	OMIM	1	164	9449	176640
HP:0003581	HP:0003581	Adult onset	0	PRNP CL E G H	5621	137440	Gerstmann-Straussler-Scheinker syndrome	137440	C0017495	OMIM	1	164	9449	176640
HP:0003581	HP:0003581	Adult onset	0	PSEN1 CL E G H	5663	607822	Alzheimer disease, type 3	607822	C1843013	OMIM	1	452	9508	104311
HP:0003581	HP:0003581	Adult onset	0	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	2750	9588	601728
HP:0003581	HP:0003581	Adult onset	0	RNF170 CL E G H	81790	608984	Ataxia, sensory, autosomal dominant	608984	C1837015	OMIM	1	68	25358	614649
HP:0003581	HP:0003581	Adult onset	0	RTEL1 CL E G H	51750	616373	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3	616373	C4225346	OMIM	1	2005	15888	608833
HP:0003581	HP:0003581	Adult onset	0	SAMD12 CL E G H	401474	601068	Epilepsy, familial adult myoclonic, 1	601068	C1832841	OMIM	1	62	31750	618073
HP:0003581	HP:0003581	Adult onset	0	SCN10A CL E G H	6336	615551	Episodic pain syndrome, familial, 2	615551	C3809893	OMIM	1	1539	10582	604427
HP:0003581	HP:0003581	Adult onset	0	SDHAF2 CL E G H	54949	601650	Paragangliomas 2	601650	C1866552	OMIM	1	412	26034	613019
HP:0003581	HP:0003581	Adult onset	0	SDHB CL E G H	6390	115310	Paragangliomas 4	115310	C1861848	OMIM	1	1099	10681	185470
HP:0003581	HP:0003581	Adult onset	0	SDHC CL E G H	6391	605373	Paragangliomas 3	605373	C1854336	OMIM	1	702	10682	602413
HP:0003581	HP:0003581	Adult onset	0	SDHD CL E G H	6392	168000	Paragangliomas 1	168000	C1868633	OMIM	1	607	10683	602690
HP:0003581	HP:0003581	Adult onset	0	SEC63 CL E G H	11231	617004	Polycystic liver disease 2	617004	C4310769	OMIM	1	343	21082	608648
HP:0003581	HP:0003581	Adult onset	0	SLC20A2 CL E G H	6575	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	281	10947	158378
HP:0003581	HP:0003581	Adult onset	0	SLC25A4 CL E G H	291	609283	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	609283	C1836460	OMIM	1	278	10990	103220
HP:0003581	HP:0003581	Adult onset	0	SMCHD1 CL E G H	23347	158901	Facioscapulohumeral muscular dystrophy 2	158901	C1834671	OMIM	1	1011	29090	614982
HP:0003581	HP:0003581	Adult onset	0	SMN1 CL E G H	6606	271150	Spinal muscular atrophy type 4	271150	C1838230	OMIM	1	208	11117	600354
HP:0003581	HP:0003581	Adult onset	0	SPG11 CL E G H	80208	604360	Spastic paraplegia 11, autosomal recessive	604360	C1858479	OMIM	1	2165	11226	610844
HP:0003581	HP:0003581	Adult onset	0	SPG7 CL E G H	6687	607259	Spastic paraplegia 7	607259	C1846564	OMIM	1	778	11237	602783
HP:0003581	HP:0003581	Adult onset	0	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	522	11386	605921
HP:0003581	HP:0003581	Adult onset	0	SYNE1 CL E G H	23345	610743	Spinocerebellar ataxia, autosomal recessive 8	610743	C1853116	OMIM	1	4598	17089	608441
HP:0003581	HP:0003581	Adult onset	0	TAF1 CL E G H	6872	314250	Dystonia 3, torsion, X-linked	314250	C1839130	OMIM	1	345	11535	313650
HP:0003581	HP:0003581	Adult onset	0	TBK1 CL E G H	29110	616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	616439	C4225325	OMIM	1	294	11584	604834
HP:0003581	HP:0003581	Adult onset	0	TFG CL E G H	10342	604484	Neuropathy, hereditary motor and sensory, Okinawa type	604484	C1858338	OMIM	1	307	11758	602498
HP:0003581	HP:0003581	Adult onset	0	TGM6 CL E G H	343641	613908	Spinocerebellar ataxia 35	613908	C3888031	OMIM	1	289	16255	613900
HP:0003581	HP:0003581	Adult onset	0	TIA1 CL E G H	7072	604454	Welander distal myopathy	604454	C0221054	OMIM	1	190	11802	603518
HP:0003581	HP:0003581	Adult onset	0	TMEM43 CL E G H	79188	614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	614302	C3553060	OMIM	1	740	28472	612048
HP:0003581	HP:0003581	Adult onset	0	TNFRSF13C CL E G H	115650	613494	Common variable immunodeficiency 4	613494	C3150739	OMIM	1	138	17755	606269
HP:0003581	HP:0003581	Adult onset	0	TNPO3 CL E G H	23534	608423	Limb-girdle muscular dystrophy, type 1F	608423	C1842062	OMIM	1	437	17103	610032
HP:0003581	HP:0003581	Adult onset	0	TOP3A CL E G H	7156	618098	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	618098	CN253818	OMIM	1	199	11992	601243
HP:0003581	HP:0003581	Adult onset	0	TREX1 CL E G H	11277	192315	Vasculopathy, retinal, with cerebral leukodystrophy	192315	C1860518	OMIM	1	327	12269	606609
HP:0003581	HP:0003581	Adult onset	0	TRPC3 CL E G H	7222	616410	Spinocerebellar ataxia 41	616410	C4225158	OMIM	1	44	12335	602345
HP:0003581	HP:0003581	Adult onset	0	TSC1 CL E G H	7248	607341	Focal cortical dysplasia type II	607341	C1846385	OMIM	1	3690	12362	605284
HP:0003581	HP:0003581	Adult onset	0	TSC2 CL E G H	7249	607341	Focal cortical dysplasia type II	607341	C1846385	OMIM	1	8495	12363	191092
HP:0003581	HP:0003581	Adult onset	0	TTBK2 CL E G H	146057	604432	Spinocerebellar ataxia 11	604432	C1858351	OMIM	1	234	19141	611695
HP:0003581	HP:0003581	Adult onset	0	TTN CL E G H	7273	600334	Distal myopathy Markesbery-Griggs type	600334	C1838244	OMIM	1	22859	12403	188840
HP:0003581	HP:0003581	Adult onset	0	TTR CL E G H	7276	105210	Amyloidogenic transthyretin amyloidosis	105210	C2751492	OMIM	1	341	12405	176300
HP:0003581	HP:0003581	Adult onset	0	TWNK CL E G H	56652	609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	609286	C1836439	OMIM	1	308	1160	606075
HP:0003581	HP:0003581	Adult onset	0	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	308	1160	606075
HP:0003581	HP:0003581	Adult onset	0	UBQLN2 CL E G H	29978	300857	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia	300857	C3275459	OMIM	1	223	12509	300264
HP:0003581	HP:0003581	Adult onset	0	VPS13D CL E G H	55187	607317	Spinocerebellar ataxia autosomal recessive 4	607317	C1846492	OMIM	1	390	23595	608877
HP:0003581	HP:0003581	Adult onset	0	WASHC5 CL E G H	9897	603563	Spastic paraplegia 8	603563	C1863704	OMIM	1	527	28984	610657
HP:0003581	HP:0003581	Adult onset	0	XPR1 CL E G H	9213	616413	Basal ganglia calcification, idiopathic, 6	616413	C4225335	OMIM	1	167	12827	605237
HP:0003581	HP:0003581	Adult onset	0	ZNF687 CL E G H	57592	616833	Paget disease of bone 6	616833	C4085250	OMIM	1	50	29277	610568
HP:0003581	HP:0003596	Middle age onset	1	ADRA2B CL E G H	151	607876	Epilepsy, familial adult myoclonic 2	607876	C1842852	OMIM	1	80	282	104260
HP:0003581	HP:0003584	Late onset	1	ADRA2B CL E G H	151	607876	Epilepsy, familial adult myoclonic 2	607876	C1842852	OMIM	1	80	282	104260
HP:0003581	HP:0011462	Young adult onset	1	ADRA2B CL E G H	151	607876	Epilepsy, familial adult myoclonic 2	607876	C1842852	OMIM	1	80	282	104260
HP:0003581	HP:0003596	Middle age onset	1	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	634	391	164730
HP:0003581	HP:0003584	Late onset	1	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	634	391	164730
HP:0003581	HP:0011462	Young adult onset	1	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	634	391	164730
HP:0003581	HP:0003596	Middle age onset	1	ANKH CL E G H	56172	118600	Chondrocalcinosis 2	118600	C0856830	OMIM	1	457	15492	605145
HP:0003581	HP:0003584	Late onset	1	ANKH CL E G H	56172	118600	Chondrocalcinosis 2	118600	C0856830	OMIM	1	457	15492	605145
HP:0003581	HP:0011462	Young adult onset	1	ANKH CL E G H	56172	118600	Chondrocalcinosis 2	118600	C0856830	OMIM	1	457	15492	605145
HP:0003581	HP:0003596	Middle age onset	1	ANO5 CL E G H	203859	613319	Miyoshi muscular dystrophy 3	613319	C2750076	OMIM	1	972	27337	608662
HP:0003581	HP:0003584	Late onset	1	ANO5 CL E G H	203859	613319	Miyoshi muscular dystrophy 3	613319	C2750076	OMIM	1	972	27337	608662
HP:0003581	HP:0011462	Young adult onset	1	ANO5 CL E G H	203859	613319	Miyoshi muscular dystrophy 3	613319	C2750076	OMIM	1	972	27337	608662
HP:0003581	HP:0003596	Middle age onset	1	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	288	15984	606350
HP:0003581	HP:0003584	Late onset	1	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	288	15984	606350
HP:0003581	HP:0011462	Young adult onset	1	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	288	15984	606350
HP:0003581	HP:0003596	Middle age onset	1	AR CL E G H	367	313200	Bulbo-spinal atrophy X-linked	313200	C1839259	OMIM	1	556	644	313700
HP:0003581	HP:0003584	Late onset	1	AR CL E G H	367	313200	Bulbo-spinal atrophy X-linked	313200	C1839259	OMIM	1	556	644	313700
HP:0003581	HP:0011462	Young adult onset	1	AR CL E G H	367	313200	Bulbo-spinal atrophy X-linked	313200	C1839259	OMIM	1	556	644	313700
HP:0003581	HP:0003596	Middle age onset	1	ARHGEF10 CL E G H	9639	608236	Slowed nerve conduction velocity, autosomal dominant	608236	C1842357	OMIM	1	511	14103	608136
HP:0003581	HP:0003584	Late onset	1	ARHGEF10 CL E G H	9639	608236	Slowed nerve conduction velocity, autosomal dominant	608236	C1842357	OMIM	1	511	14103	608136
HP:0003581	HP:0011462	Young adult onset	1	ARHGEF10 CL E G H	9639	608236	Slowed nerve conduction velocity, autosomal dominant	608236	C1842357	OMIM	1	511	14103	608136
HP:0003581	HP:0003596	Middle age onset	1	ATL1 CL E G H	51062	613708	Hereditary sensory neuropathy type 1D	613708	C3150972	OMIM	1	408	11231	606439
HP:0003581	HP:0003584	Late onset	1	ATL1 CL E G H	51062	613708	Hereditary sensory neuropathy type 1D	613708	C3150972	OMIM	1	408	11231	606439
HP:0003581	HP:0011462	Young adult onset	1	ATL1 CL E G H	51062	613708	Hereditary sensory neuropathy type 1D	613708	C3150972	OMIM	1	408	11231	606439
HP:0003581	HP:0003596	Middle age onset	1	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	86	10548	601556
HP:0003581	HP:0003584	Late onset	1	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	86	10548	601556
HP:0003581	HP:0011462	Young adult onset	1	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	86	10548	601556
HP:0003581	HP:0003596	Middle age onset	1	C9orf72 CL E G H	203228	105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	105550	C1862937	OMIM	1	173	28337	614260
HP:0003581	HP:0003584	Late onset	1	C9orf72 CL E G H	203228	105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	105550	C1862937	OMIM	1	173	28337	614260
HP:0003581	HP:0011462	Young adult onset	1	C9orf72 CL E G H	203228	105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	105550	C1862937	OMIM	1	173	28337	614260
HP:0003581	HP:0003596	Middle age onset	1	CACNA1B CL E G H	774	614860	Dystonia 23	614860	C3538999	OMIM	1	469	1389	601012
HP:0003581	HP:0003584	Late onset	1	CACNA1B CL E G H	774	614860	Dystonia 23	614860	C3538999	OMIM	1	469	1389	601012
HP:0003581	HP:0011462	Young adult onset	1	CACNA1B CL E G H	774	614860	Dystonia 23	614860	C3538999	OMIM	1	469	1389	601012
HP:0003581	HP:0003584	Late onset	1	CAPN3 CL E G H	825	618129	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4	618129	CN253839	OMIM	1	1288	1480	114240
HP:0003581	HP:0011462	Young adult onset	1	CAPN3 CL E G H	825	618129	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4	618129	CN253839	OMIM	1	1288	1480	114240
HP:0003581	HP:0003596	Middle age onset	1	CAPN3 CL E G H	825	618129	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4	618129	CN253839	OMIM	1	1288	1480	114240
HP:0003581	HP:0003596	Middle age onset	1	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	390	1529	601253
HP:0003581	HP:0003584	Late onset	1	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	390	1529	601253
HP:0003581	HP:0011462	Young adult onset	1	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	390	1529	601253
HP:0003581	HP:0003596	Middle age onset	1	CCDC88C CL E G H	440193	616053	Spinocerebellar ataxia 40	616053	CN252333	OMIM	1	279	19967	611204
HP:0003581	HP:0003584	Late onset	1	CCDC88C CL E G H	440193	616053	Spinocerebellar ataxia 40	616053	CN252333	OMIM	1	279	19967	611204
HP:0003581	HP:0011462	Young adult onset	1	CCDC88C CL E G H	440193	616053	Spinocerebellar ataxia 40	616053	CN252333	OMIM	1	279	19967	611204
HP:0003581	HP:0003596	Middle age onset	1	CHMP2B CL E G H	25978	614696	Amyotrophic lateral sclerosis 17	614696	C1836076	OMIM	1	141	24537	609512
HP:0003581	HP:0003584	Late onset	1	CHMP2B CL E G H	25978	614696	Amyotrophic lateral sclerosis 17	614696	C1836076	OMIM	1	141	24537	609512
HP:0003581	HP:0011462	Young adult onset	1	CHMP2B CL E G H	25978	614696	Amyotrophic lateral sclerosis 17	614696	C1836076	OMIM	1	141	24537	609512
HP:0003581	HP:0003596	Middle age onset	1	CLN6 CL E G H	54982	204300	Adult neuronal ceroid lipofuscinosis	204300	C0022797	OMIM	1	553	2077	606725
HP:0003581	HP:0003584	Late onset	1	CLN6 CL E G H	54982	204300	Adult neuronal ceroid lipofuscinosis	204300	C0022797	OMIM	1	553	2077	606725
HP:0003581	HP:0011462	Young adult onset	1	CLN6 CL E G H	54982	204300	Adult neuronal ceroid lipofuscinosis	204300	C0022797	OMIM	1	553	2077	606725
HP:0003581	HP:0003596	Middle age onset	1	CPT1C CL E G H	126129	616282	Spastic paraplegia 73, autosomal dominant	616282	C4225387	OMIM	1	133	18540	608846
HP:0003581	HP:0003584	Late onset	1	CPT1C CL E G H	126129	616282	Spastic paraplegia 73, autosomal dominant	616282	C4225387	OMIM	1	133	18540	608846
HP:0003581	HP:0011462	Young adult onset	1	CPT1C CL E G H	126129	616282	Spastic paraplegia 73, autosomal dominant	616282	C4225387	OMIM	1	133	18540	608846
HP:0003581	HP:0003596	Middle age onset	1	CRYAB CL E G H	1410	608810	Alpha-B crystallinopathy	608810	C1837317	OMIM	1	230	2389	123590
HP:0003581	HP:0003584	Late onset	1	CRYAB CL E G H	1410	608810	Alpha-B crystallinopathy	608810	C1837317	OMIM	1	230	2389	123590
HP:0003581	HP:0011462	Young adult onset	1	CRYAB CL E G H	1410	608810	Alpha-B crystallinopathy	608810	C1837317	OMIM	1	230	2389	123590
HP:0003581	HP:0003596	Middle age onset	1	CSF1R CL E G H	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	221820	C3711381	OMIM	1	518	2433	164770
HP:0003581	HP:0003584	Late onset	1	CSF1R CL E G H	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	221820	C3711381	OMIM	1	518	2433	164770
HP:0003581	HP:0011462	Young adult onset	1	CSF1R CL E G H	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	221820	C3711381	OMIM	1	518	2433	164770
HP:0003581	HP:0003596	Middle age onset	1	CTSF CL E G H	8722	615362	Ceroid lipofuscinosis, neuronal, 13	615362	C3715049	OMIM	1	182	2531	603539
HP:0003581	HP:0003584	Late onset	1	CTSF CL E G H	8722	615362	Ceroid lipofuscinosis, neuronal, 13	615362	C3715049	OMIM	1	182	2531	603539
HP:0003581	HP:0011462	Young adult onset	1	CTSF CL E G H	8722	615362	Ceroid lipofuscinosis, neuronal, 13	615362	C3715049	OMIM	1	182	2531	603539
HP:0003581	HP:0003596	Middle age onset	1	CYLD CL E G H	1540	132700	Cylindromatosis, familial	132700	C1851526	OMIM	1	252	2584	605018
HP:0003581	HP:0003584	Late onset	1	CYLD CL E G H	1540	132700	Cylindromatosis, familial	132700	C1851526	OMIM	1	252	2584	605018
HP:0003581	HP:0011462	Young adult onset	1	CYLD CL E G H	1540	132700	Cylindromatosis, familial	132700	C1851526	OMIM	1	252	2584	605018
HP:0003581	HP:0003596	Middle age onset	1	CYLD CL E G H	1540	601606	Familial multiple trichoepitheliomata	601606	C1275122	OMIM	1	252	2584	605018
HP:0003581	HP:0003584	Late onset	1	CYLD CL E G H	1540	601606	Familial multiple trichoepitheliomata	601606	C1275122	OMIM	1	252	2584	605018
HP:0003581	HP:0011462	Young adult onset	1	CYLD CL E G H	1540	601606	Familial multiple trichoepitheliomata	601606	C1275122	OMIM	1	252	2584	605018
HP:0003581	HP:0003596	Middle age onset	1	CYLD CL E G H	1540	605041	Spiegler-Brooke syndrome	605041	C1857941	OMIM	1	252	2584	605018
HP:0003581	HP:0003584	Late onset	1	CYLD CL E G H	1540	605041	Spiegler-Brooke syndrome	605041	C1857941	OMIM	1	252	2584	605018
HP:0003581	HP:0011462	Young adult onset	1	CYLD CL E G H	1540	605041	Spiegler-Brooke syndrome	605041	C1857941	OMIM	1	252	2584	605018
HP:0003581	HP:0003596	Middle age onset	1	DCTN1 CL E G H	1639	607641	Distal hereditary motor neuronopathy type 7B	607641	C1843315	OMIM	1	858	2711	601143
HP:0003581	HP:0003584	Late onset	1	DCTN1 CL E G H	1639	607641	Distal hereditary motor neuronopathy type 7B	607641	C1843315	OMIM	1	858	2711	601143
HP:0003581	HP:0011462	Young adult onset	1	DCTN1 CL E G H	1639	607641	Distal hereditary motor neuronopathy type 7B	607641	C1843315	OMIM	1	858	2711	601143
HP:0003581	HP:0003596	Middle age onset	1	DGUOK CL E G H	1716	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070	C4310733	OMIM	1	167	2858	601465
HP:0003581	HP:0003584	Late onset	1	DGUOK CL E G H	1716	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070	C4310733	OMIM	1	167	2858	601465
HP:0003581	HP:0011462	Young adult onset	1	DGUOK CL E G H	1716	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070	C4310733	OMIM	1	167	2858	601465
HP:0003581	HP:0003596	Middle age onset	1	DMD CL E G H	1756	300376	Becker muscular dystrophy	300376	C0917713	OMIM	1	7370	2928	300377
HP:0003581	HP:0003584	Late onset	1	DMD CL E G H	1756	300376	Becker muscular dystrophy	300376	C0917713	OMIM	1	7370	2928	300377
HP:0003581	HP:0011462	Young adult onset	1	DMD CL E G H	1756	300376	Becker muscular dystrophy	300376	C0917713	OMIM	1	7370	2928	300377
HP:0003581	HP:0003584	Late onset	1	DNAJB11 CL E G H	51726	618061	POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE	618061	CN252647	OMIM	1	111	14889	611341
HP:0003581	HP:0011462	Young adult onset	1	DNAJB11 CL E G H	51726	618061	POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE	618061	CN252647	OMIM	1	111	14889	611341
HP:0003581	HP:0003596	Middle age onset	1	DNAJB11 CL E G H	51726	618061	POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE	618061	CN252647	OMIM	1	111	14889	611341
HP:0003581	HP:0003596	Middle age onset	1	DNAJB6 CL E G H	10049	603511	Limb-girdle muscular dystrophy, type 1E	603511	C3148763	OMIM	1	411	14888	611332
HP:0003581	HP:0003584	Late onset	1	DNAJB6 CL E G H	10049	603511	Limb-girdle muscular dystrophy, type 1E	603511	C3148763	OMIM	1	411	14888	611332
HP:0003581	HP:0011462	Young adult onset	1	DNAJB6 CL E G H	10049	603511	Limb-girdle muscular dystrophy, type 1E	603511	C3148763	OMIM	1	411	14888	611332
HP:0003581	HP:0003596	Middle age onset	1	DNAJC5 CL E G H	80331	162350	Ceroid lipofuscinosis neuronal 4B autosomal dominant	162350	C1834207	OMIM	1	393	16235	611203
HP:0003581	HP:0003584	Late onset	1	DNAJC5 CL E G H	80331	162350	Ceroid lipofuscinosis neuronal 4B autosomal dominant	162350	C1834207	OMIM	1	393	16235	611203
HP:0003581	HP:0011462	Young adult onset	1	DNAJC5 CL E G H	80331	162350	Ceroid lipofuscinosis neuronal 4B autosomal dominant	162350	C1834207	OMIM	1	393	16235	611203
HP:0003581	HP:0003596	Middle age onset	1	DNMT1 CL E G H	1786	604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	604121	C1858804	OMIM	1	995	2976	126375
HP:0003581	HP:0003584	Late onset	1	DNMT1 CL E G H	1786	604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	604121	C1858804	OMIM	1	995	2976	126375
HP:0003581	HP:0011462	Young adult onset	1	DNMT1 CL E G H	1786	604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	604121	C1858804	OMIM	1	995	2976	126375
HP:0003581	HP:0003596	Middle age onset	1	DPM3 CL E G H	54344	612937	Congenital disorder of glycosylation type 1O	612937	C2752007	OMIM	1	60	3007	605951
HP:0003581	HP:0003584	Late onset	1	DPM3 CL E G H	54344	612937	Congenital disorder of glycosylation type 1O	612937	C2752007	OMIM	1	60	3007	605951
HP:0003581	HP:0011462	Young adult onset	1	DPM3 CL E G H	54344	612937	Congenital disorder of glycosylation type 1O	612937	C2752007	OMIM	1	60	3007	605951
HP:0003581	HP:0003596	Middle age onset	1	DYSF CL E G H	8291	254130	Miyoshi muscular dystrophy 1	254130	C1850808	OMIM	1	2736	3097	603009
HP:0003581	HP:0003584	Late onset	1	DYSF CL E G H	8291	254130	Miyoshi muscular dystrophy 1	254130	C1850808	OMIM	1	2736	3097	603009
HP:0003581	HP:0011462	Young adult onset	1	DYSF CL E G H	8291	254130	Miyoshi muscular dystrophy 1	254130	C1850808	OMIM	1	2736	3097	603009
HP:0003581	HP:0003596	Middle age onset	1	EEF2 CL E G H	1938	609306	Spinocerebellar ataxia 26	609306	C1836395	OMIM	1	204	3214	130610
HP:0003581	HP:0003584	Late onset	1	EEF2 CL E G H	1938	609306	Spinocerebellar ataxia 26	609306	C1836395	OMIM	1	204	3214	130610
HP:0003581	HP:0011462	Young adult onset	1	EEF2 CL E G H	1938	609306	Spinocerebellar ataxia 26	609306	C1836395	OMIM	1	204	3214	130610
HP:0003581	HP:0003596	Middle age onset	1	ENO3 CL E G H	2027	612932	Glycogen storage disease type 13	612932	C2752027	OMIM	1	175	3354	131370
HP:0003581	HP:0003584	Late onset	1	ENO3 CL E G H	2027	612932	Glycogen storage disease type 13	612932	C2752027	OMIM	1	175	3354	131370
HP:0003581	HP:0011462	Young adult onset	1	ENO3 CL E G H	2027	612932	Glycogen storage disease type 13	612932	C2752027	OMIM	1	175	3354	131370
HP:0003581	HP:0003596	Middle age onset	1	ERBB4 CL E G H	2066	615515	Amyotrophic lateral sclerosis 19	615515	C3715155	OMIM	1	321	3432	600543
HP:0003581	HP:0003584	Late onset	1	ERBB4 CL E G H	2066	615515	Amyotrophic lateral sclerosis 19	615515	C3715155	OMIM	1	321	3432	600543
HP:0003581	HP:0011462	Young adult onset	1	ERBB4 CL E G H	2066	615515	Amyotrophic lateral sclerosis 19	615515	C3715155	OMIM	1	321	3432	600543
HP:0003581	HP:0003596	Middle age onset	1	F5 CL E G H	2153	188055	Thrombophilia due to activated protein C resistance	188055	C1861171	OMIM	1	513	3542	612309
HP:0003581	HP:0003584	Late onset	1	F5 CL E G H	2153	188055	Thrombophilia due to activated protein C resistance	188055	C1861171	OMIM	1	513	3542	612309
HP:0003581	HP:0011462	Young adult onset	1	F5 CL E G H	2153	188055	Thrombophilia due to activated protein C resistance	188055	C1861171	OMIM	1	513	3542	612309
HP:0003581	HP:0003584	Late onset	1	FAT2 CL E G H	2196	617769	SPINOCEREBELLAR ATAXIA 45	617769	C4540400	OMIM	1	188	3596	604269
HP:0003581	HP:0011462	Young adult onset	1	FAT2 CL E G H	2196	617769	SPINOCEREBELLAR ATAXIA 45	617769	C4540400	OMIM	1	188	3596	604269
HP:0003581	HP:0003596	Middle age onset	1	FAT2 CL E G H	2196	617769	SPINOCEREBELLAR ATAXIA 45	617769	C4540400	OMIM	1	188	3596	604269
HP:0003581	HP:0003596	Middle age onset	1	FHL1 CL E G H	2273	300695	Scapuloperoneal myopathy, X-linked dominant	300695	C2678061	OMIM	1	517	3702	300163
HP:0003581	HP:0003584	Late onset	1	FHL1 CL E G H	2273	300695	Scapuloperoneal myopathy, X-linked dominant	300695	C2678061	OMIM	1	517	3702	300163
HP:0003581	HP:0011462	Young adult onset	1	FHL1 CL E G H	2273	300695	Scapuloperoneal myopathy, X-linked dominant	300695	C2678061	OMIM	1	517	3702	300163
HP:0003581	HP:0003596	Middle age onset	1	FLNC CL E G H	2318	609524	Myofibrillar myopathy, filamin C-related	609524	C1836050	OMIM	1	3455	3756	102565
HP:0003581	HP:0003584	Late onset	1	FLNC CL E G H	2318	609524	Myofibrillar myopathy, filamin C-related	609524	C1836050	OMIM	1	3455	3756	102565
HP:0003581	HP:0011462	Young adult onset	1	FLNC CL E G H	2318	609524	Myofibrillar myopathy, filamin C-related	609524	C1836050	OMIM	1	3455	3756	102565
HP:0003581	HP:0003596	Middle age onset	1	FMR1 CL E G H	2332	300623	Fragile X tremor/ataxia syndrome	300623	C1839780	OMIM	1	338	3775	309550
HP:0003581	HP:0003584	Late onset	1	FMR1 CL E G H	2332	300623	Fragile X tremor/ataxia syndrome	300623	C1839780	OMIM	1	338	3775	309550
HP:0003581	HP:0011462	Young adult onset	1	FMR1 CL E G H	2332	300623	Fragile X tremor/ataxia syndrome	300623	C1839780	OMIM	1	338	3775	309550
HP:0003581	HP:0003596	Middle age onset	1	GBA CL E G H	2629	231000	Subacute neuronopathic Gaucher's disease	231000	C0268251	OMIM	1		4177	606463
HP:0003581	HP:0003584	Late onset	1	GBA CL E G H	2629	231000	Subacute neuronopathic Gaucher's disease	231000	C0268251	OMIM	1		4177	606463
HP:0003581	HP:0011462	Young adult onset	1	GBA CL E G H	2629	231000	Subacute neuronopathic Gaucher's disease	231000	C0268251	OMIM	1		4177	606463
HP:0003581	HP:0003596	Middle age onset	1	GBE1 CL E G H	2632	263570	Polyglucosan body disease, adult	263570	C1849722	OMIM	1	600	4180	607839
HP:0003581	HP:0003584	Late onset	1	GBE1 CL E G H	2632	263570	Polyglucosan body disease, adult	263570	C1849722	OMIM	1	600	4180	607839
HP:0003581	HP:0011462	Young adult onset	1	GBE1 CL E G H	2632	263570	Polyglucosan body disease, adult	263570	C1849722	OMIM	1	600	4180	607839
HP:0003581	HP:0003596	Middle age onset	1	GNAS CL E G H	2778	219080	Cushing's syndrome	219080	C1857451	OMIM	1	445	4392	139320
HP:0003581	HP:0003584	Late onset	1	GNAS CL E G H	2778	219080	Cushing's syndrome	219080	C1857451	OMIM	1	445	4392	139320
HP:0003581	HP:0011462	Young adult onset	1	GNAS CL E G H	2778	219080	Cushing's syndrome	219080	C1857451	OMIM	1	445	4392	139320
HP:0003581	HP:0003596	Middle age onset	1	GNE CL E G H	10020	605820	Nonaka myopathy	605820	C1853926	OMIM	1	783	23657	603824
HP:0003581	HP:0003584	Late onset	1	GNE CL E G H	10020	605820	Nonaka myopathy	605820	C1853926	OMIM	1	783	23657	603824
HP:0003581	HP:0011462	Young adult onset	1	GNE CL E G H	10020	605820	Nonaka myopathy	605820	C1853926	OMIM	1	783	23657	603824
HP:0003581	HP:0003596	Middle age onset	1	GSN CL E G H	2934	105120	Meretoja syndrome	105120	C1622345	OMIM	1	412	4620	137350
HP:0003581	HP:0003584	Late onset	1	GSN CL E G H	2934	105120	Meretoja syndrome	105120	C1622345	OMIM	1	412	4620	137350
HP:0003581	HP:0011462	Young adult onset	1	GSN CL E G H	2934	105120	Meretoja syndrome	105120	C1622345	OMIM	1	412	4620	137350
HP:0003581	HP:0003596	Middle age onset	1	HNRNPDL CL E G H	9987	609115	Limb-girdle muscular dystrophy, type 1G	609115	C1836765	OMIM	1	248	5037	607137
HP:0003581	HP:0003584	Late onset	1	HNRNPDL CL E G H	9987	609115	Limb-girdle muscular dystrophy, type 1G	609115	C1836765	OMIM	1	248	5037	607137
HP:0003581	HP:0011462	Young adult onset	1	HNRNPDL CL E G H	9987	609115	Limb-girdle muscular dystrophy, type 1G	609115	C1836765	OMIM	1	248	5037	607137
HP:0003581	HP:0003596	Middle age onset	1	HSPB1 CL E G H	3315	608634	Distal hereditary motor neuronopathy type 2B	608634	C2608087	OMIM	1	329	5246	602195
HP:0003581	HP:0003584	Late onset	1	HSPB1 CL E G H	3315	608634	Distal hereditary motor neuronopathy type 2B	608634	C2608087	OMIM	1	329	5246	602195
HP:0003581	HP:0011462	Young adult onset	1	HSPB1 CL E G H	3315	608634	Distal hereditary motor neuronopathy type 2B	608634	C2608087	OMIM	1	329	5246	602195
HP:0003581	HP:0003596	Middle age onset	1	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	1134	6180	147265
HP:0003581	HP:0003584	Late onset	1	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	1134	6180	147265
HP:0003581	HP:0011462	Young adult onset	1	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	1134	6180	147265
HP:0003581	HP:0003596	Middle age onset	1	LMNB1 CL E G H	4001	169500	Leukodystrophy, adult-onset, autosomal dominant	169500	C1868512	OMIM	1	169	6637	150340
HP:0003581	HP:0003584	Late onset	1	LMNB1 CL E G H	4001	169500	Leukodystrophy, adult-onset, autosomal dominant	169500	C1868512	OMIM	1	169	6637	150340
HP:0003581	HP:0011462	Young adult onset	1	LMNB1 CL E G H	4001	169500	Leukodystrophy, adult-onset, autosomal dominant	169500	C1868512	OMIM	1	169	6637	150340
HP:0003581	HP:0003596	Middle age onset	1	MAPT CL E G H	4137	260540	Parkinson-dementia syndrome	260540	C1850077	OMIM	1	514	6893	157140
HP:0003581	HP:0003584	Late onset	1	MAPT CL E G H	4137	260540	Parkinson-dementia syndrome	260540	C1850077	OMIM	1	514	6893	157140
HP:0003581	HP:0011462	Young adult onset	1	MAPT CL E G H	4137	260540	Parkinson-dementia syndrome	260540	C1850077	OMIM	1	514	6893	157140
HP:0003581	HP:0003596	Middle age onset	1	MAPT CL E G H	4137	601104	Progressive supranuclear ophthalmoplegia	601104	C0038868	OMIM	1	514	6893	157140
HP:0003581	HP:0003584	Late onset	1	MAPT CL E G H	4137	601104	Progressive supranuclear ophthalmoplegia	601104	C0038868	OMIM	1	514	6893	157140
HP:0003581	HP:0011462	Young adult onset	1	MAPT CL E G H	4137	601104	Progressive supranuclear ophthalmoplegia	601104	C0038868	OMIM	1	514	6893	157140
HP:0003581	HP:0003596	Middle age onset	1	MATR3 CL E G H	9782	606070	Amyotrophic lateral sclerosis 21	606070	C3807521	OMIM	1	333	6912	164015
HP:0003581	HP:0003584	Late onset	1	MATR3 CL E G H	9782	606070	Amyotrophic lateral sclerosis 21	606070	C3807521	OMIM	1	333	6912	164015
HP:0003581	HP:0011462	Young adult onset	1	MATR3 CL E G H	9782	606070	Amyotrophic lateral sclerosis 21	606070	C3807521	OMIM	1	333	6912	164015
HP:0003581	HP:0003596	Middle age onset	1	MED25 CL E G H	81857	605589	Charcot-Marie-Tooth disease type 2B2	605589	C1854150	OMIM	1	525	28845	610197
HP:0003581	HP:0003584	Late onset	1	MED25 CL E G H	81857	605589	Charcot-Marie-Tooth disease type 2B2	605589	C1854150	OMIM	1	525	28845	610197
HP:0003581	HP:0011462	Young adult onset	1	MED25 CL E G H	81857	605589	Charcot-Marie-Tooth disease type 2B2	605589	C1854150	OMIM	1	525	28845	610197
HP:0003581	HP:0003596	Middle age onset	1	MME CL E G H	4311	617017	Charcot-Marie-Tooth disease, axonal, type 2T	617017	C4015635	OMIM	1	422	7154	120520
HP:0003581	HP:0003584	Late onset	1	MME CL E G H	4311	617017	Charcot-Marie-Tooth disease, axonal, type 2T	617017	C4015635	OMIM	1	422	7154	120520
HP:0003581	HP:0011462	Young adult onset	1	MME CL E G H	4311	617017	Charcot-Marie-Tooth disease, axonal, type 2T	617017	C4015635	OMIM	1	422	7154	120520
HP:0003581	HP:0003596	Middle age onset	1	MME CL E G H	4311	617018	Spinocerebellar ataxia 43	617018	C4310763	OMIM	1	422	7154	120520
HP:0003581	HP:0003584	Late onset	1	MME CL E G H	4311	617018	Spinocerebellar ataxia 43	617018	C4310763	OMIM	1	422	7154	120520
HP:0003581	HP:0011462	Young adult onset	1	MME CL E G H	4311	617018	Spinocerebellar ataxia 43	617018	C4310763	OMIM	1	422	7154	120520
HP:0003581	HP:0003596	Middle age onset	1	MN1 CL E G H	4330	607174	Meningioma, familial	607174	C1333989	OMIM	1	100	7180	156100
HP:0003581	HP:0003584	Late onset	1	MN1 CL E G H	4330	607174	Meningioma, familial	607174	C1333989	OMIM	1	100	7180	156100
HP:0003581	HP:0011462	Young adult onset	1	MN1 CL E G H	4330	607174	Meningioma, familial	607174	C1333989	OMIM	1	100	7180	156100
HP:0003581	HP:0003596	Middle age onset	1	MTOR CL E G H	2475	607341	Focal cortical dysplasia type II	607341	C1846385	OMIM	1	1671	3942	601231
HP:0003581	HP:0003584	Late onset	1	MTOR CL E G H	2475	607341	Focal cortical dysplasia type II	607341	C1846385	OMIM	1	1671	3942	601231
HP:0003581	HP:0011462	Young adult onset	1	MTOR CL E G H	2475	607341	Focal cortical dysplasia type II	607341	C1846385	OMIM	1	1671	3942	601231
HP:0003581	HP:0003596	Middle age onset	1	MUC1 CL E G H	4582	174000	Medullary cystic kidney disease 1	174000	C1868139	OMIM	1	25	7508	158340
HP:0003581	HP:0003584	Late onset	1	MUC1 CL E G H	4582	174000	Medullary cystic kidney disease 1	174000	C1868139	OMIM	1	25	7508	158340
HP:0003581	HP:0011462	Young adult onset	1	MUC1 CL E G H	4582	174000	Medullary cystic kidney disease 1	174000	C1868139	OMIM	1	25	7508	158340
HP:0003581	HP:0003596	Middle age onset	1	MYOT CL E G H	9499	609200	Myotilinopathy	609200	C1836607	OMIM	1	295	12399	604103
HP:0003581	HP:0003584	Late onset	1	MYOT CL E G H	9499	609200	Myotilinopathy	609200	C1836607	OMIM	1	295	12399	604103
HP:0003581	HP:0011462	Young adult onset	1	MYOT CL E G H	9499	609200	Myotilinopathy	609200	C1836607	OMIM	1	295	12399	604103
HP:0003581	HP:0003596	Middle age onset	1	NAGA CL E G H	4668	609242	Kanzaki disease	609242	C1836522	OMIM	1	183	7631	104170
HP:0003581	HP:0003584	Late onset	1	NAGA CL E G H	4668	609242	Kanzaki disease	609242	C1836522	OMIM	1	183	7631	104170
HP:0003581	HP:0011462	Young adult onset	1	NAGA CL E G H	4668	609242	Kanzaki disease	609242	C1836522	OMIM	1	183	7631	104170
HP:0003581	HP:0003596	Middle age onset	1	NF2 CL E G H	4771	607174	Meningioma, familial	607174	C1333989	OMIM	1	1518	7773	607379
HP:0003581	HP:0003584	Late onset	1	NF2 CL E G H	4771	607174	Meningioma, familial	607174	C1333989	OMIM	1	1518	7773	607379
HP:0003581	HP:0011462	Young adult onset	1	NF2 CL E G H	4771	607174	Meningioma, familial	607174	C1333989	OMIM	1	1518	7773	607379
HP:0003581	HP:0003596	Middle age onset	1	NOL3 CL E G H	8996	614937	Myoclonus, familial cortical	614937	C3539916	OMIM	1	43	7869	605235
HP:0003581	HP:0003584	Late onset	1	NOL3 CL E G H	8996	614937	Myoclonus, familial cortical	614937	C3539916	OMIM	1	43	7869	605235
HP:0003581	HP:0011462	Young adult onset	1	NOL3 CL E G H	8996	614937	Myoclonus, familial cortical	614937	C3539916	OMIM	1	43	7869	605235
HP:0003581	HP:0003596	Middle age onset	1	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	1	1133	7883	600276
HP:0003581	HP:0003584	Late onset	1	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	1	1133	7883	600276
HP:0003581	HP:0011462	Young adult onset	1	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	1	1133	7883	600276
HP:0003581	HP:0003596	Middle age onset	1	OSMR CL E G H	9180	105250	Primary localized cutaneous amyloidosis 1	105250	C0268398	OMIM	1	58	8507	601743
HP:0003581	HP:0003584	Late onset	1	OSMR CL E G H	9180	105250	Primary localized cutaneous amyloidosis 1	105250	C0268398	OMIM	1	58	8507	601743
HP:0003581	HP:0011462	Young adult onset	1	OSMR CL E G H	9180	105250	Primary localized cutaneous amyloidosis 1	105250	C0268398	OMIM	1	58	8507	601743
HP:0003581	HP:0003596	Middle age onset	1	PABPN1 CL E G H	8106	164300	Oculopharyngeal muscular dystrophy	164300	C0270952	OMIM	1	63	8565	602279
HP:0003581	HP:0003584	Late onset	1	PABPN1 CL E G H	8106	164300	Oculopharyngeal muscular dystrophy	164300	C0270952	OMIM	1	63	8565	602279
HP:0003581	HP:0011462	Young adult onset	1	PABPN1 CL E G H	8106	164300	Oculopharyngeal muscular dystrophy	164300	C0270952	OMIM	1	63	8565	602279
HP:0003581	HP:0003596	Middle age onset	1	PARK7 CL E G H	11315	606324	Parkinson disease 7	606324	C1853445	OMIM	1	160	16369	602533
HP:0003581	HP:0003584	Late onset	1	PARK7 CL E G H	11315	606324	Parkinson disease 7	606324	C1853445	OMIM	1	160	16369	602533
HP:0003581	HP:0011462	Young adult onset	1	PARK7 CL E G H	11315	606324	Parkinson disease 7	606324	C1853445	OMIM	1	160	16369	602533
HP:0003581	HP:0003596	Middle age onset	1	PARN CL E G H	5073	616371	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4	616371	C4225347	OMIM	1	443	8609	604212
HP:0003581	HP:0003584	Late onset	1	PARN CL E G H	5073	616371	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4	616371	C4225347	OMIM	1	443	8609	604212
HP:0003581	HP:0011462	Young adult onset	1	PARN CL E G H	5073	616371	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4	616371	C4225347	OMIM	1	443	8609	604212
HP:0003581	HP:0003596	Middle age onset	1	PDGFB CL E G H	5155	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	105	8800	190040
HP:0003581	HP:0003584	Late onset	1	PDGFB CL E G H	5155	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	105	8800	190040
HP:0003581	HP:0011462	Young adult onset	1	PDGFB CL E G H	5155	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	105	8800	190040
HP:0003581	HP:0003596	Middle age onset	1	PDGFB CL E G H	5155	607174	Meningioma, familial	607174	C1333989	OMIM	1	105	8800	190040
HP:0003581	HP:0003584	Late onset	1	PDGFB CL E G H	5155	607174	Meningioma, familial	607174	C1333989	OMIM	1	105	8800	190040
HP:0003581	HP:0011462	Young adult onset	1	PDGFB CL E G H	5155	607174	Meningioma, familial	607174	C1333989	OMIM	1	105	8800	190040
HP:0003581	HP:0003596	Middle age onset	1	PDGFRB CL E G H	5159	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	345	8804	173410
HP:0003581	HP:0003584	Late onset	1	PDGFRB CL E G H	5159	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	345	8804	173410
HP:0003581	HP:0011462	Young adult onset	1	PDGFRB CL E G H	5159	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	345	8804	173410
HP:0003581	HP:0003596	Middle age onset	1	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	975	8975	171834
HP:0003581	HP:0003584	Late onset	1	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	975	8975	171834
HP:0003581	HP:0011462	Young adult onset	1	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	975	8975	171834
HP:0003581	HP:0003584	Late onset	1	PLD3 CL E G H	23646	617770	SPINOCEREBELLAR ATAXIA 46	617770	C4540404	OMIM	1	22	17158	615698
HP:0003581	HP:0011462	Young adult onset	1	PLD3 CL E G H	23646	617770	SPINOCEREBELLAR ATAXIA 46	617770	C4540404	OMIM	1	22	17158	615698
HP:0003581	HP:0003596	Middle age onset	1	PLD3 CL E G H	23646	617770	SPINOCEREBELLAR ATAXIA 46	617770	C4540404	OMIM	1	22	17158	615698
HP:0003581	HP:0003596	Middle age onset	1	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	443	30802	609059
HP:0003581	HP:0003584	Late onset	1	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	443	30802	609059
HP:0003581	HP:0011462	Young adult onset	1	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	443	30802	609059
HP:0003581	HP:0003596	Middle age onset	1	POLG CL E G H	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	157640	C1834846	OMIM	1	1917	9179	174763
HP:0003581	HP:0003584	Late onset	1	POLG CL E G H	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	157640	C1834846	OMIM	1	1917	9179	174763
HP:0003581	HP:0011462	Young adult onset	1	POLG CL E G H	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	157640	C1834846	OMIM	1	1917	9179	174763
HP:0003581	HP:0003596	Middle age onset	1	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	1917	9179	174763
HP:0003581	HP:0003584	Late onset	1	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	1917	9179	174763
HP:0003581	HP:0011462	Young adult onset	1	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	1917	9179	174763
HP:0003581	HP:0003596	Middle age onset	1	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	1917	9179	174763
HP:0003581	HP:0003584	Late onset	1	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	1917	9179	174763
HP:0003581	HP:0011462	Young adult onset	1	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	1917	9179	174763
HP:0003581	HP:0003596	Middle age onset	1	POLG2 CL E G H	11232	610131	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	610131	C1864668	OMIM	1	240	9180	604983
HP:0003581	HP:0003584	Late onset	1	POLG2 CL E G H	11232	610131	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	610131	C1864668	OMIM	1	240	9180	604983
HP:0003581	HP:0011462	Young adult onset	1	POLG2 CL E G H	11232	610131	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	610131	C1864668	OMIM	1	240	9180	604983
HP:0003581	HP:0003596	Middle age onset	1	PRKCSH CL E G H	5589	174050	Polycystic liver disease 1	174050	C4310613	OMIM	1	211	9411	177060
HP:0003581	HP:0003584	Late onset	1	PRKCSH CL E G H	5589	174050	Polycystic liver disease 1	174050	C4310613	OMIM	1	211	9411	177060
HP:0003581	HP:0011462	Young adult onset	1	PRKCSH CL E G H	5589	174050	Polycystic liver disease 1	174050	C4310613	OMIM	1	211	9411	177060
HP:0003581	HP:0003596	Middle age onset	1	PRKN CL E G H	5071	600116	Parkinson disease 2	600116	C1868675	OMIM	1	655	8607	602544
HP:0003581	HP:0003584	Late onset	1	PRKN CL E G H	5071	600116	Parkinson disease 2	600116	C1868675	OMIM	1	655	8607	602544
HP:0003581	HP:0011462	Young adult onset	1	PRKN CL E G H	5071	600116	Parkinson disease 2	600116	C1868675	OMIM	1	655	8607	602544
HP:0003581	HP:0003596	Middle age onset	1	PRNP CL E G H	5621	600072	Fatal familial insomnia	600072	C0206042	OMIM	1	164	9449	176640
HP:0003581	HP:0003584	Late onset	1	PRNP CL E G H	5621	600072	Fatal familial insomnia	600072	C0206042	OMIM	1	164	9449	176640
HP:0003581	HP:0011462	Young adult onset	1	PRNP CL E G H	5621	600072	Fatal familial insomnia	600072	C0206042	OMIM	1	164	9449	176640
HP:0003581	HP:0003596	Middle age onset	1	PRNP CL E G H	5621	137440	Gerstmann-Straussler-Scheinker syndrome	137440	C0017495	OMIM	1	164	9449	176640
HP:0003581	HP:0003584	Late onset	1	PRNP CL E G H	5621	137440	Gerstmann-Straussler-Scheinker syndrome	137440	C0017495	OMIM	1	164	9449	176640
HP:0003581	HP:0011462	Young adult onset	1	PRNP CL E G H	5621	137440	Gerstmann-Straussler-Scheinker syndrome	137440	C0017495	OMIM	1	164	9449	176640
HP:0003581	HP:0003596	Middle age onset	1	PSEN1 CL E G H	5663	607822	Alzheimer disease, type 3	607822	C1843013	OMIM	1	452	9508	104311
HP:0003581	HP:0003584	Late onset	1	PSEN1 CL E G H	5663	607822	Alzheimer disease, type 3	607822	C1843013	OMIM	1	452	9508	104311
HP:0003581	HP:0011462	Young adult onset	1	PSEN1 CL E G H	5663	607822	Alzheimer disease, type 3	607822	C1843013	OMIM	1	452	9508	104311
HP:0003581	HP:0003596	Middle age onset	1	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	2750	9588	601728
HP:0003581	HP:0003584	Late onset	1	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	2750	9588	601728
HP:0003581	HP:0011462	Young adult onset	1	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	2750	9588	601728
HP:0003581	HP:0003596	Middle age onset	1	RNF170 CL E G H	81790	608984	Ataxia, sensory, autosomal dominant	608984	C1837015	OMIM	1	68	25358	614649
HP:0003581	HP:0003584	Late onset	1	RNF170 CL E G H	81790	608984	Ataxia, sensory, autosomal dominant	608984	C1837015	OMIM	1	68	25358	614649
HP:0003581	HP:0011462	Young adult onset	1	RNF170 CL E G H	81790	608984	Ataxia, sensory, autosomal dominant	608984	C1837015	OMIM	1	68	25358	614649
HP:0003581	HP:0003596	Middle age onset	1	RTEL1 CL E G H	51750	616373	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3	616373	C4225346	OMIM	1	2005	15888	608833
HP:0003581	HP:0003584	Late onset	1	RTEL1 CL E G H	51750	616373	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3	616373	C4225346	OMIM	1	2005	15888	608833
HP:0003581	HP:0011462	Young adult onset	1	RTEL1 CL E G H	51750	616373	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3	616373	C4225346	OMIM	1	2005	15888	608833
HP:0003581	HP:0003596	Middle age onset	1	SAMD12 CL E G H	401474	601068	Epilepsy, familial adult myoclonic, 1	601068	C1832841	OMIM	1	62	31750	618073
HP:0003581	HP:0003584	Late onset	1	SAMD12 CL E G H	401474	601068	Epilepsy, familial adult myoclonic, 1	601068	C1832841	OMIM	1	62	31750	618073
HP:0003581	HP:0011462	Young adult onset	1	SAMD12 CL E G H	401474	601068	Epilepsy, familial adult myoclonic, 1	601068	C1832841	OMIM	1	62	31750	618073
HP:0003581	HP:0003596	Middle age onset	1	SCN10A CL E G H	6336	615551	Episodic pain syndrome, familial, 2	615551	C3809893	OMIM	1	1539	10582	604427
HP:0003581	HP:0003584	Late onset	1	SCN10A CL E G H	6336	615551	Episodic pain syndrome, familial, 2	615551	C3809893	OMIM	1	1539	10582	604427
HP:0003581	HP:0011462	Young adult onset	1	SCN10A CL E G H	6336	615551	Episodic pain syndrome, familial, 2	615551	C3809893	OMIM	1	1539	10582	604427
HP:0003581	HP:0003596	Middle age onset	1	SDHAF2 CL E G H	54949	601650	Paragangliomas 2	601650	C1866552	OMIM	1	412	26034	613019
HP:0003581	HP:0003584	Late onset	1	SDHAF2 CL E G H	54949	601650	Paragangliomas 2	601650	C1866552	OMIM	1	412	26034	613019
HP:0003581	HP:0011462	Young adult onset	1	SDHAF2 CL E G H	54949	601650	Paragangliomas 2	601650	C1866552	OMIM	1	412	26034	613019
HP:0003581	HP:0003596	Middle age onset	1	SDHB CL E G H	6390	115310	Paragangliomas 4	115310	C1861848	OMIM	1	1099	10681	185470
HP:0003581	HP:0003584	Late onset	1	SDHB CL E G H	6390	115310	Paragangliomas 4	115310	C1861848	OMIM	1	1099	10681	185470
HP:0003581	HP:0011462	Young adult onset	1	SDHB CL E G H	6390	115310	Paragangliomas 4	115310	C1861848	OMIM	1	1099	10681	185470
HP:0003581	HP:0003596	Middle age onset	1	SDHC CL E G H	6391	605373	Paragangliomas 3	605373	C1854336	OMIM	1	702	10682	602413
HP:0003581	HP:0003584	Late onset	1	SDHC CL E G H	6391	605373	Paragangliomas 3	605373	C1854336	OMIM	1	702	10682	602413
HP:0003581	HP:0011462	Young adult onset	1	SDHC CL E G H	6391	605373	Paragangliomas 3	605373	C1854336	OMIM	1	702	10682	602413
HP:0003581	HP:0003596	Middle age onset	1	SDHD CL E G H	6392	168000	Paragangliomas 1	168000	C1868633	OMIM	1	607	10683	602690
HP:0003581	HP:0003584	Late onset	1	SDHD CL E G H	6392	168000	Paragangliomas 1	168000	C1868633	OMIM	1	607	10683	602690
HP:0003581	HP:0011462	Young adult onset	1	SDHD CL E G H	6392	168000	Paragangliomas 1	168000	C1868633	OMIM	1	607	10683	602690
HP:0003581	HP:0003596	Middle age onset	1	SEC63 CL E G H	11231	617004	Polycystic liver disease 2	617004	C4310769	OMIM	1	343	21082	608648
HP:0003581	HP:0003584	Late onset	1	SEC63 CL E G H	11231	617004	Polycystic liver disease 2	617004	C4310769	OMIM	1	343	21082	608648
HP:0003581	HP:0011462	Young adult onset	1	SEC63 CL E G H	11231	617004	Polycystic liver disease 2	617004	C4310769	OMIM	1	343	21082	608648
HP:0003581	HP:0003596	Middle age onset	1	SLC20A2 CL E G H	6575	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	281	10947	158378
HP:0003581	HP:0003584	Late onset	1	SLC20A2 CL E G H	6575	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	281	10947	158378
HP:0003581	HP:0011462	Young adult onset	1	SLC20A2 CL E G H	6575	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	281	10947	158378
HP:0003581	HP:0003596	Middle age onset	1	SLC25A4 CL E G H	291	609283	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	609283	C1836460	OMIM	1	278	10990	103220
HP:0003581	HP:0003584	Late onset	1	SLC25A4 CL E G H	291	609283	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	609283	C1836460	OMIM	1	278	10990	103220
HP:0003581	HP:0011462	Young adult onset	1	SLC25A4 CL E G H	291	609283	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	609283	C1836460	OMIM	1	278	10990	103220
HP:0003581	HP:0003596	Middle age onset	1	SMCHD1 CL E G H	23347	158901	Facioscapulohumeral muscular dystrophy 2	158901	C1834671	OMIM	1	1011	29090	614982
HP:0003581	HP:0003584	Late onset	1	SMCHD1 CL E G H	23347	158901	Facioscapulohumeral muscular dystrophy 2	158901	C1834671	OMIM	1	1011	29090	614982
HP:0003581	HP:0011462	Young adult onset	1	SMCHD1 CL E G H	23347	158901	Facioscapulohumeral muscular dystrophy 2	158901	C1834671	OMIM	1	1011	29090	614982
HP:0003581	HP:0003596	Middle age onset	1	SMN1 CL E G H	6606	271150	Spinal muscular atrophy type 4	271150	C1838230	OMIM	1	208	11117	600354
HP:0003581	HP:0003584	Late onset	1	SMN1 CL E G H	6606	271150	Spinal muscular atrophy type 4	271150	C1838230	OMIM	1	208	11117	600354
HP:0003581	HP:0011462	Young adult onset	1	SMN1 CL E G H	6606	271150	Spinal muscular atrophy type 4	271150	C1838230	OMIM	1	208	11117	600354
HP:0003581	HP:0003596	Middle age onset	1	SPG11 CL E G H	80208	604360	Spastic paraplegia 11, autosomal recessive	604360	C1858479	OMIM	1	2165	11226	610844
HP:0003581	HP:0003584	Late onset	1	SPG11 CL E G H	80208	604360	Spastic paraplegia 11, autosomal recessive	604360	C1858479	OMIM	1	2165	11226	610844
HP:0003581	HP:0011462	Young adult onset	1	SPG11 CL E G H	80208	604360	Spastic paraplegia 11, autosomal recessive	604360	C1858479	OMIM	1	2165	11226	610844
HP:0003581	HP:0003596	Middle age onset	1	SPG7 CL E G H	6687	607259	Spastic paraplegia 7	607259	C1846564	OMIM	1	778	11237	602783
HP:0003581	HP:0003584	Late onset	1	SPG7 CL E G H	6687	607259	Spastic paraplegia 7	607259	C1846564	OMIM	1	778	11237	602783
HP:0003581	HP:0011462	Young adult onset	1	SPG7 CL E G H	6687	607259	Spastic paraplegia 7	607259	C1846564	OMIM	1	778	11237	602783
HP:0003581	HP:0003596	Middle age onset	1	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	522	11386	605921
HP:0003581	HP:0003584	Late onset	1	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	522	11386	605921
HP:0003581	HP:0011462	Young adult onset	1	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	522	11386	605921
HP:0003581	HP:0003596	Middle age onset	1	SYNE1 CL E G H	23345	610743	Spinocerebellar ataxia, autosomal recessive 8	610743	C1853116	OMIM	1	4598	17089	608441
HP:0003581	HP:0003584	Late onset	1	SYNE1 CL E G H	23345	610743	Spinocerebellar ataxia, autosomal recessive 8	610743	C1853116	OMIM	1	4598	17089	608441
HP:0003581	HP:0011462	Young adult onset	1	SYNE1 CL E G H	23345	610743	Spinocerebellar ataxia, autosomal recessive 8	610743	C1853116	OMIM	1	4598	17089	608441
HP:0003581	HP:0003596	Middle age onset	1	TAF1 CL E G H	6872	314250	Dystonia 3, torsion, X-linked	314250	C1839130	OMIM	1	345	11535	313650
HP:0003581	HP:0003584	Late onset	1	TAF1 CL E G H	6872	314250	Dystonia 3, torsion, X-linked	314250	C1839130	OMIM	1	345	11535	313650
HP:0003581	HP:0011462	Young adult onset	1	TAF1 CL E G H	6872	314250	Dystonia 3, torsion, X-linked	314250	C1839130	OMIM	1	345	11535	313650
HP:0003581	HP:0003596	Middle age onset	1	TBK1 CL E G H	29110	616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	616439	C4225325	OMIM	1	294	11584	604834
HP:0003581	HP:0003584	Late onset	1	TBK1 CL E G H	29110	616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	616439	C4225325	OMIM	1	294	11584	604834
HP:0003581	HP:0011462	Young adult onset	1	TBK1 CL E G H	29110	616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	616439	C4225325	OMIM	1	294	11584	604834
HP:0003581	HP:0003596	Middle age onset	1	TFG CL E G H	10342	604484	Neuropathy, hereditary motor and sensory, Okinawa type	604484	C1858338	OMIM	1	307	11758	602498
HP:0003581	HP:0003584	Late onset	1	TFG CL E G H	10342	604484	Neuropathy, hereditary motor and sensory, Okinawa type	604484	C1858338	OMIM	1	307	11758	602498
HP:0003581	HP:0011462	Young adult onset	1	TFG CL E G H	10342	604484	Neuropathy, hereditary motor and sensory, Okinawa type	604484	C1858338	OMIM	1	307	11758	602498
HP:0003581	HP:0003596	Middle age onset	1	TGM6 CL E G H	343641	613908	Spinocerebellar ataxia 35	613908	C3888031	OMIM	1	289	16255	613900
HP:0003581	HP:0003584	Late onset	1	TGM6 CL E G H	343641	613908	Spinocerebellar ataxia 35	613908	C3888031	OMIM	1	289	16255	613900
HP:0003581	HP:0011462	Young adult onset	1	TGM6 CL E G H	343641	613908	Spinocerebellar ataxia 35	613908	C3888031	OMIM	1	289	16255	613900
HP:0003581	HP:0003596	Middle age onset	1	TIA1 CL E G H	7072	604454	Welander distal myopathy	604454	C0221054	OMIM	1	190	11802	603518
HP:0003581	HP:0003584	Late onset	1	TIA1 CL E G H	7072	604454	Welander distal myopathy	604454	C0221054	OMIM	1	190	11802	603518
HP:0003581	HP:0011462	Young adult onset	1	TIA1 CL E G H	7072	604454	Welander distal myopathy	604454	C0221054	OMIM	1	190	11802	603518
HP:0003581	HP:0003596	Middle age onset	1	TMEM43 CL E G H	79188	614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	614302	C3553060	OMIM	1	740	28472	612048
HP:0003581	HP:0003584	Late onset	1	TMEM43 CL E G H	79188	614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	614302	C3553060	OMIM	1	740	28472	612048
HP:0003581	HP:0011462	Young adult onset	1	TMEM43 CL E G H	79188	614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	614302	C3553060	OMIM	1	740	28472	612048
HP:0003581	HP:0003596	Middle age onset	1	TNFRSF13C CL E G H	115650	613494	Common variable immunodeficiency 4	613494	C3150739	OMIM	1	138	17755	606269
HP:0003581	HP:0003584	Late onset	1	TNFRSF13C CL E G H	115650	613494	Common variable immunodeficiency 4	613494	C3150739	OMIM	1	138	17755	606269
HP:0003581	HP:0011462	Young adult onset	1	TNFRSF13C CL E G H	115650	613494	Common variable immunodeficiency 4	613494	C3150739	OMIM	1	138	17755	606269
HP:0003581	HP:0003596	Middle age onset	1	TNPO3 CL E G H	23534	608423	Limb-girdle muscular dystrophy, type 1F	608423	C1842062	OMIM	1	437	17103	610032
HP:0003581	HP:0003584	Late onset	1	TNPO3 CL E G H	23534	608423	Limb-girdle muscular dystrophy, type 1F	608423	C1842062	OMIM	1	437	17103	610032
HP:0003581	HP:0011462	Young adult onset	1	TNPO3 CL E G H	23534	608423	Limb-girdle muscular dystrophy, type 1F	608423	C1842062	OMIM	1	437	17103	610032
HP:0003581	HP:0003584	Late onset	1	TOP3A CL E G H	7156	618098	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	618098	CN253818	OMIM	1	199	11992	601243
HP:0003581	HP:0011462	Young adult onset	1	TOP3A CL E G H	7156	618098	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	618098	CN253818	OMIM	1	199	11992	601243
HP:0003581	HP:0003596	Middle age onset	1	TOP3A CL E G H	7156	618098	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	618098	CN253818	OMIM	1	199	11992	601243
HP:0003581	HP:0003596	Middle age onset	1	TREX1 CL E G H	11277	192315	Vasculopathy, retinal, with cerebral leukodystrophy	192315	C1860518	OMIM	1	327	12269	606609
HP:0003581	HP:0003584	Late onset	1	TREX1 CL E G H	11277	192315	Vasculopathy, retinal, with cerebral leukodystrophy	192315	C1860518	OMIM	1	327	12269	606609
HP:0003581	HP:0011462	Young adult onset	1	TREX1 CL E G H	11277	192315	Vasculopathy, retinal, with cerebral leukodystrophy	192315	C1860518	OMIM	1	327	12269	606609
HP:0003581	HP:0003596	Middle age onset	1	TRPC3 CL E G H	7222	616410	Spinocerebellar ataxia 41	616410	C4225158	OMIM	1	44	12335	602345
HP:0003581	HP:0003584	Late onset	1	TRPC3 CL E G H	7222	616410	Spinocerebellar ataxia 41	616410	C4225158	OMIM	1	44	12335	602345
HP:0003581	HP:0011462	Young adult onset	1	TRPC3 CL E G H	7222	616410	Spinocerebellar ataxia 41	616410	C4225158	OMIM	1	44	12335	602345
HP:0003581	HP:0003596	Middle age onset	1	TSC1 CL E G H	7248	607341	Focal cortical dysplasia type II	607341	C1846385	OMIM	1	3690	12362	605284
HP:0003581	HP:0003584	Late onset	1	TSC1 CL E G H	7248	607341	Focal cortical dysplasia type II	607341	C1846385	OMIM	1	3690	12362	605284
HP:0003581	HP:0011462	Young adult onset	1	TSC1 CL E G H	7248	607341	Focal cortical dysplasia type II	607341	C1846385	OMIM	1	3690	12362	605284
HP:0003581	HP:0003596	Middle age onset	1	TSC2 CL E G H	7249	607341	Focal cortical dysplasia type II	607341	C1846385	OMIM	1	8495	12363	191092
HP:0003581	HP:0003584	Late onset	1	TSC2 CL E G H	7249	607341	Focal cortical dysplasia type II	607341	C1846385	OMIM	1	8495	12363	191092
HP:0003581	HP:0011462	Young adult onset	1	TSC2 CL E G H	7249	607341	Focal cortical dysplasia type II	607341	C1846385	OMIM	1	8495	12363	191092
HP:0003581	HP:0003596	Middle age onset	1	TTBK2 CL E G H	146057	604432	Spinocerebellar ataxia 11	604432	C1858351	OMIM	1	234	19141	611695
HP:0003581	HP:0003584	Late onset	1	TTBK2 CL E G H	146057	604432	Spinocerebellar ataxia 11	604432	C1858351	OMIM	1	234	19141	611695
HP:0003581	HP:0011462	Young adult onset	1	TTBK2 CL E G H	146057	604432	Spinocerebellar ataxia 11	604432	C1858351	OMIM	1	234	19141	611695
HP:0003581	HP:0003596	Middle age onset	1	TTN CL E G H	7273	600334	Distal myopathy Markesbery-Griggs type	600334	C1838244	OMIM	1	22859	12403	188840
HP:0003581	HP:0003584	Late onset	1	TTN CL E G H	7273	600334	Distal myopathy Markesbery-Griggs type	600334	C1838244	OMIM	1	22859	12403	188840
HP:0003581	HP:0011462	Young adult onset	1	TTN CL E G H	7273	600334	Distal myopathy Markesbery-Griggs type	600334	C1838244	OMIM	1	22859	12403	188840
HP:0003581	HP:0003596	Middle age onset	1	TTR CL E G H	7276	105210	Amyloidogenic transthyretin amyloidosis	105210	C2751492	OMIM	1	341	12405	176300
HP:0003581	HP:0003584	Late onset	1	TTR CL E G H	7276	105210	Amyloidogenic transthyretin amyloidosis	105210	C2751492	OMIM	1	341	12405	176300
HP:0003581	HP:0011462	Young adult onset	1	TTR CL E G H	7276	105210	Amyloidogenic transthyretin amyloidosis	105210	C2751492	OMIM	1	341	12405	176300
HP:0003581	HP:0003596	Middle age onset	1	TWNK CL E G H	56652	609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	609286	C1836439	OMIM	1	308	1160	606075
HP:0003581	HP:0003584	Late onset	1	TWNK CL E G H	56652	609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	609286	C1836439	OMIM	1	308	1160	606075
HP:0003581	HP:0011462	Young adult onset	1	TWNK CL E G H	56652	609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	609286	C1836439	OMIM	1	308	1160	606075
HP:0003581	HP:0003596	Middle age onset	1	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	308	1160	606075
HP:0003581	HP:0003584	Late onset	1	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	308	1160	606075
HP:0003581	HP:0011462	Young adult onset	1	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	308	1160	606075
HP:0003581	HP:0003596	Middle age onset	1	UBQLN2 CL E G H	29978	300857	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia	300857	C3275459	OMIM	1	223	12509	300264
HP:0003581	HP:0003584	Late onset	1	UBQLN2 CL E G H	29978	300857	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia	300857	C3275459	OMIM	1	223	12509	300264
HP:0003581	HP:0011462	Young adult onset	1	UBQLN2 CL E G H	29978	300857	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia	300857	C3275459	OMIM	1	223	12509	300264
HP:0003581	HP:0003596	Middle age onset	1	VPS13D CL E G H	55187	607317	Spinocerebellar ataxia autosomal recessive 4	607317	C1846492	OMIM	1	390	23595	608877
HP:0003581	HP:0003584	Late onset	1	VPS13D CL E G H	55187	607317	Spinocerebellar ataxia autosomal recessive 4	607317	C1846492	OMIM	1	390	23595	608877
HP:0003581	HP:0011462	Young adult onset	1	VPS13D CL E G H	55187	607317	Spinocerebellar ataxia autosomal recessive 4	607317	C1846492	OMIM	1	390	23595	608877
HP:0003581	HP:0003596	Middle age onset	1	WASHC5 CL E G H	9897	603563	Spastic paraplegia 8	603563	C1863704	OMIM	1	527	28984	610657
HP:0003581	HP:0003584	Late onset	1	WASHC5 CL E G H	9897	603563	Spastic paraplegia 8	603563	C1863704	OMIM	1	527	28984	610657
HP:0003581	HP:0011462	Young adult onset	1	WASHC5 CL E G H	9897	603563	Spastic paraplegia 8	603563	C1863704	OMIM	1	527	28984	610657
HP:0003581	HP:0003596	Middle age onset	1	XPR1 CL E G H	9213	616413	Basal ganglia calcification, idiopathic, 6	616413	C4225335	OMIM	1	167	12827	605237
HP:0003581	HP:0003584	Late onset	1	XPR1 CL E G H	9213	616413	Basal ganglia calcification, idiopathic, 6	616413	C4225335	OMIM	1	167	12827	605237
HP:0003581	HP:0011462	Young adult onset	1	XPR1 CL E G H	9213	616413	Basal ganglia calcification, idiopathic, 6	616413	C4225335	OMIM	1	167	12827	605237
HP:0003581	HP:0003596	Middle age onset	1	ZNF687 CL E G H	57592	616833	Paget disease of bone 6	616833	C4085250	OMIM	1	50	29277	610568
HP:0003581	HP:0003584	Late onset	1	ZNF687 CL E G H	57592	616833	Paget disease of bone 6	616833	C4085250	OMIM	1	50	29277	610568
HP:0003581	HP:0011462	Young adult onset	1	ZNF687 CL E G H	57592	616833	Paget disease of bone 6	616833	C4085250	OMIM	1	50	29277	610568
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003581	HP:0003581	Adult onset	0	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	0	54	1243	601269
HP:0003581	HP:0003584	Late onset	1	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	0	54	1243	601269
HP:0003581	HP:0011462	Young adult onset	1	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	0	54	1243	601269
HP:0003581	HP:0003596	Middle age onset	1	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	0	54	1243	601269

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.

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