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:
Pace of progression (HP:0003679)

..Starting node
..Progressive (HP:0003676)

Term ID:

3676

Name:

Progressive

Synonym:

Progressive disorder; Worsens with time

Definition:

Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age.

Comments:

Reference:

HP:0003676

Genes and Diseases:

Child Nodes:

Sister Nodes:

Nonprogressive (HP:0003680)

Rapidly progressive (HP:0003678)

Slowly progressive (HP:0003677)

Variable progression rate (HP:0003682)

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:0003676	HP:0003676	Progressive	0	AAAS CL E G H	8086	231550	Glucocorticoid deficiency with achalasia	231550	C0271742	OMIM	1	187	13666	605378
HP:0003676	HP:0003676	Progressive	0	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	429	21022	612035
HP:0003676	HP:0003676	Progressive	0	ABCD1 CL E G H	215	300100	Adrenoleukodystrophy	300100	C0162309	OMIM	1	1220	61	300371
HP:0003676	HP:0003676	Progressive	0	ABCD3 CL E G H	5825	616278	Bile acid synthesis defect, congenital, 5	616278	C4225390	OMIM	1	50	67	170995
HP:0003676	HP:0003676	Progressive	0	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	49	16066	617036
HP:0003676	HP:0003676	Progressive	0	ADA2 CL E G H	51816	182410	Idiopathic livedo reticularis with systemic involvement	182410	C0282492	OMIM	1	434	1839	607575
HP:0003676	HP:0003676	Progressive	0	ADK CL E G H	132	614300	Hypermethioninemia due to adenosine kinase deficiency	614300	C3280381	OMIM	1	90	257	102750
HP:0003676	HP:0003676	Progressive	0	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	385	315	604581
HP:0003676	HP:0003676	Progressive	0	AGTPBP1 CL E G H	23287	618276	618276	618276		OMIM	1	66	17258	606830
HP:0003676	HP:0003676	Progressive	0	AIFM1 CL E G H	9131	300816	Combined oxidative phosphorylation deficiency 6	300816	C3151753	OMIM	1	487	8768	300169
HP:0003676	HP:0003676	Progressive	0	AIMP1 CL E G H	9255	260600	Leukodystrophy, hypomyelinating 3	260600	C1850053	OMIM	1	71	10648	603605
HP:0003676	HP:0003676	Progressive	0	AIMP2 CL E G H	7965	618006	LEUKODYSTROPHY, HYPOMYELINATING, 17	618006	CN248514	OMIM	1	125	20609	600859
HP:0003676	HP:0003676	Progressive	0	AKT1 CL E G H	207	176920	Proteus syndrome	176920	C0085261	OMIM	1	634	391	164730
HP:0003676	HP:0003676	Progressive	0	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	437	9722	138250
HP:0003676	HP:0003676	Progressive	0	ALS2 CL E G H	57679	205100	Amyotrophic lateral sclerosis type 2	205100	C1859807	OMIM	1	754	443	606352
HP:0003676	HP:0003676	Progressive	0	ALS2 CL E G H	57679	607225	Infantile-onset ascending hereditary spastic paralysis	607225	C2931441	OMIM	1	754	443	606352
HP:0003676	HP:0003676	Progressive	0	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	972	27337	608662
HP:0003676	HP:0003676	Progressive	0	ANTXR2 CL E G H	118429	228600	Hyaline fibromatosis syndrome	228600	C2745948	OMIM	1	264	21732	608041
HP:0003676	HP:0003676	Progressive	0	AP5Z1 CL E G H	9907	613647	Spastic paraplegia 48, autosomal recessive	613647	C3150901	OMIM	1	810	22197	613653
HP:0003676	HP:0003676	Progressive	0	ASAH1 CL E G H	427	228000	Farber disease	228000	C0268255	OMIM	1	712	735	613468
HP:0003676	HP:0003676	Progressive	0	ASAH1 CL E G H	427	159950	Jankovic Rivera syndrome	159950	C1834569	OMIM	1	712	735	613468
HP:0003676	HP:0003676	Progressive	0	ASNS CL E G H	440	615574	Asparagine synthetase deficiency	615574	C3809971	OMIM	1	432	753	108370
HP:0003676	HP:0003676	Progressive	0	ATAD1 CL E G H	84896	618011	HYPEREKPLEXIA 4	618011	CN248518	OMIM	1	116	25903	614452
HP:0003676	HP:0003676	Progressive	0	ATL1 CL E G H	51062	613708	Hereditary sensory neuropathy type 1D	613708	C3150972	OMIM	1	408	11231	606439
HP:0003676	HP:0003676	Progressive	0	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	46	7106	607047
HP:0003676	HP:0003676	Progressive	0	B4GALNT1 CL E G H	2583	609195	Spastic paraplegia 26	609195	C1836632	OMIM	1	192	4117	601873
HP:0003676	HP:0003676	Progressive	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	334	1020	603647
HP:0003676	HP:0003676	Progressive	0	BRAT1 CL E G H	221927	614498	Rigidity and multifocal seizure syndrome, lethal neonatal	614498	C3281029	OMIM	1	960	21701	614506
HP:0003676	HP:0003676	Progressive	0	BSCL2 CL E G H	26580	615924	Encephalopathy, progressive, with or without lipodystrophy	615924	C4014700	OMIM	1	435	15832	606158
HP:0003676	HP:0003676	Progressive	0	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1		26784	613541
HP:0003676	HP:0003676	Progressive	0	C19orf12 CL E G H	83636	614298	Neurodegeneration with brain iron accumulation 4	614298	C3280371	OMIM	1	276	25443	614297
HP:0003676	HP:0003676	Progressive	0	CACNA1A CL E G H	773	183086	Spinocerebellar ataxia 6	183086	C0752124	OMIM	1	2689	1388	601011
HP:0003676	HP:0003676	Progressive	0	CACNA1B CL E G H	774	614860	Dystonia 23	614860	C3538999	OMIM	1	469	1389	601012
HP:0003676	HP:0003676	Progressive	0	CAD CL E G H	790	616457	Epileptic encephalopathy, early infantile, 50	616457	C4225320	OMIM	1	879	1424	114010
HP:0003676	HP:0003676	Progressive	0	CCNO CL E G H	10309	615872	Ciliary dyskinesia, primary, 29	615872	C4014534	OMIM	1	130	18576	607752
HP:0003676	HP:0003676	Progressive	0	CERS1 CL E G H	10715	616230	Epilepsy, progressive myoclonic 8	616230	C4015619	OMIM	1	326	14253	606919
HP:0003676	HP:0003676	Progressive	0	CFHR5 CL E G H	81494	614809	CFHR5 deficiency	614809	C3553720	OMIM	1	168	24668	608593
HP:0003676	HP:0003676	Progressive	0	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	1	248	15559	615903
HP:0003676	HP:0003676	Progressive	0	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	408	1965	100720
HP:0003676	HP:0003676	Progressive	0	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	453	30664	616254
HP:0003676	HP:0003676	Progressive	0	COASY CL E G H	80347	615643	Neurodegeneration with brain iron accumulation 6	615643	C3810230	OMIM	1	175	29932	609855
HP:0003676	HP:0003676	Progressive	0	COCH CL E G H	1690	601369	Deafness, autosomal dominant 9	601369	C1832425	OMIM	1	203	2180	603196
HP:0003676	HP:0003676	Progressive	0	COL4A3 CL E G H	1285	104200	Alport syndrome, autosomal dominant	104200	C1567743	OMIM	1	1667	2204	120070
HP:0003676	HP:0003676	Progressive	0	COL4A3 CL E G H	1285	203780	Alport syndrome, autosomal recessive	203780	C1567744	OMIM	1	1667	2204	120070
HP:0003676	HP:0003676	Progressive	0	COL4A4 CL E G H	1286	203780	Alport syndrome, autosomal recessive	203780	C1567744	OMIM	1	1863	2206	120131
HP:0003676	HP:0003676	Progressive	0	COL4A5 CL E G H	1287	301050	Alport syndrome, X-linked recessive	301050	C1567742	OMIM	1	1765	2207	303630
HP:0003676	HP:0003676	Progressive	0	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1470	2211	120220
HP:0003676	HP:0003676	Progressive	0	COL6A2 CL E G H	1292	255600	Myosclerosis, autosomal recessive	255600	C1850671	OMIM	1	1644	2212	120240
HP:0003676	HP:0003676	Progressive	0	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1644	2212	120240
HP:0003676	HP:0003676	Progressive	0	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	2414	2213	120250
HP:0003676	HP:0003676	Progressive	0	COPB2 CL E G H	9276	617800	MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE	617800	C4540488	OMIM	1	58	2232	606990
HP:0003676	HP:0003676	Progressive	0	COQ8B CL E G H	79934	615573	Nephrotic syndrome, type 9	615573	C3809965	OMIM	1	162	19041	615567
HP:0003676	HP:0003676	Progressive	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	293	2260	602125
HP:0003676	HP:0003676	Progressive	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	251	2263	603646
HP:0003676	HP:0003676	Progressive	0	CRAT CL E G H	1384	617917	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8	617917	CN895591	OMIM	1	132	2342	600184
HP:0003676	HP:0003676	Progressive	0	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	1044	26169	613129
HP:0003676	HP:0003676	Progressive	0	CTSF CL E G H	8722	615362	Ceroid lipofuscinosis, neuronal, 13	615362	C3715049	OMIM	1	182	2531	603539
HP:0003676	HP:0003676	Progressive	0	CYP7B1 CL E G H	9420	270800	Spastic paraplegia 5A	270800	C1849115	OMIM	1	333	2652	603711
HP:0003676	HP:0003676	Progressive	0	DARS CL E G H	1615	615281	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	615281	C3809008	OMIM	1		2678	603084
HP:0003676	HP:0003676	Progressive	0	DCDC2 CL E G H	51473	617394	Sclerosing cholangitis, neonatal	617394	C4479344	OMIM	1	201	18141	605755
HP:0003676	HP:0003676	Progressive	0	DDHD2 CL E G H	23259	615033	Spastic paraplegia 54, autosomal recessive	615033	C3539495	OMIM	1	249	29106	615003
HP:0003676	HP:0003676	Progressive	0	DGKE CL E G H	8526	615008	Nephrotic syndrome, type 7	615008	C3554330	OMIM	1	110	2852	601440
HP:0003676	HP:0003676	Progressive	0	DIABLO CL E G H	56616	614152	Deafness, autosomal dominant 64	614152	C3279948	OMIM	1	100	21528	605219
HP:0003676	HP:0003676	Progressive	0	DMXL2 CL E G H	23312	617605	DEAFNESS, AUTOSOMAL DOMINANT 71	617605	C4539881	OMIM	1	439	2938	612186
HP:0003676	HP:0003676	Progressive	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:0003676	HP:0003676	Progressive	0	DNM1L CL E G H	10059	614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	614388	C3280660	OMIM	1	445	2973	603850
HP:0003676	HP:0003676	Progressive	0	DNMT1 CL E G H	1786	604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	604121	C1858804	OMIM	1	995	2976	126375
HP:0003676	HP:0003676	Progressive	0	DNMT1 CL E G H	1786	614116	Hereditary sensory neuropathy type IE	614116	C3279885	OMIM	1	995	2976	126375
HP:0003676	HP:0003676	Progressive	0	DPM1 CL E G H	8813	608799	Congenital disorder of glycosylation type 1E	608799	C1837396	OMIM	1	203	3005	603503
HP:0003676	HP:0003676	Progressive	0	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1458	5959	603722
HP:0003676	HP:0003676	Progressive	0	ELP2 CL E G H	55250	617270	Mental retardation, autosomal recessive 58	617270	C4310641	OMIM	1	110	18248	616054
HP:0003676	HP:0003676	Progressive	0	EMC1 CL E G H	23065	616875	Cerebellar atrophy, visual impairment, and psychomotor retardation	616875	C4225172	OMIM	1	689	28957	616846
HP:0003676	HP:0003676	Progressive	0	EPRS CL E G H	2058	617951	LEUKODYSTROPHY, HYPOMYELINATING, 15	617951	CN244566	OMIM	1		3418	138295
HP:0003676	HP:0003676	Progressive	0	ERLIN1 CL E G H	10613	615681	Spastic paraplegia 62, autosomal recessive	615681	C4284588	OMIM	1	97	16947	611604
HP:0003676	HP:0003676	Progressive	0	ERLIN2 CL E G H	11160	611225	Spastic paraplegia 18	611225	C2749936	OMIM	1	159	1356	611605
HP:0003676	HP:0003676	Progressive	0	EXOSC9 CL E G H	5393	618065	PONTOCEREBELLAR HYPOPLASIA, TYPE 1D	618065	CN252648	OMIM	1	156	9137	606180
HP:0003676	HP:0003676	Progressive	0	FA2H CL E G H	79152	612319	Spastic paraplegia 35	612319	C3668943	OMIM	1	312	21197	611026
HP:0003676	HP:0003676	Progressive	0	FAN1 CL E G H	22909	614817	Interstitial nephritis, karyomegalic	614817	C3553774	OMIM	1	360	29170	613534
HP:0003676	HP:0003676	Progressive	0	FHL1 CL E G H	2273	300696	Myopathy with postural muscle atrophy, X-linked	300696	C2678055	OMIM	1	517	3702	300163
HP:0003676	HP:0003676	Progressive	0	FIG4 CL E G H	9896	611228	Charcot-Marie-Tooth disease, type 4J	611228	C1970011	OMIM	1	749	16873	609390
HP:0003676	HP:0003676	Progressive	0	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	783	3622	607440
HP:0003676	HP:0003676	Progressive	0	FTL CL E G H	2512	606159	Neuroferritinopathy	606159	C1853578	OMIM	1	151	3999	134790
HP:0003676	HP:0003676	Progressive	0	GBA2 CL E G H	57704	614409	Spastic paraplegia 46, autosomal recessive	614409	C2828721	OMIM	1	277	18986	609471
HP:0003676	HP:0003676	Progressive	0	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	445	4392	139320
HP:0003676	HP:0003676	Progressive	0	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0003676	HP:0003676	Progressive	0	GOSR2 CL E G H	9570	614018	Epilepsy, progressive myoclonic 6	614018	C3279627	OMIM	1	272	4431	604027
HP:0003676	HP:0003676	Progressive	0	GPT2 CL E G H	84706	616281	Mental retardation, autosomal recessive 49	616281	C4225388	OMIM	1	86	18062	138210
HP:0003676	HP:0003676	Progressive	0	GRHL2 CL E G H	79977	608641	Deafness, autosomal dominant 28	608641	C1837640	OMIM	1	196	2799	608576
HP:0003676	HP:0003676	Progressive	0	HINT1 CL E G H	3094	137200	Neuromyotonia and axonal neuropathy, autosomal recessive	137200	CN074193	OMIM	1	130	4912	601314
HP:0003676	HP:0003676	Progressive	0	HK1 CL E G H	3098	605285	Neuropathy, hereditary motor and sensory, Russe type	605285	C1854449	OMIM	1	391	4922	142600
HP:0003676	HP:0003676	Progressive	0	HSPD1 CL E G H	3329	605280	Spastic paraplegia 13	605280	C1854467	OMIM	1	207	5261	118190
HP:0003676	HP:0003676	Progressive	0	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0003676	HP:0003676	Progressive	0	INF2 CL E G H	64423	614455	Charcot-Marie-Tooth disease, dominant intermediate E	614455	C3280845	OMIM	1	1150	23791	610982
HP:0003676	HP:0003676	Progressive	0	INPP5K CL E G H	51763	617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	617404	C4479410	OMIM	1	157	33882	607875
HP:0003676	HP:0003676	Progressive	0	IRF2BPL CL E G H	64207	618088	NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES	618088	CN252701	OMIM	1	167	14282	611720
HP:0003676	HP:0003676	Progressive	0	ISCA1 CL E G H	81689	617613	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5	617613	C4539919	OMIM	1	44	28660	611006
HP:0003676	HP:0003676	Progressive	0	ISCA2 CL E G H	122961	616370	Multiple mitochondrial dysfunctions syndrome 4	616370	C4225348	OMIM	1	56	19857	615317
HP:0003676	HP:0003676	Progressive	0	KCNC1 CL E G H	3746	616187	Epilepsy, progressive myoclonic 7	616187	C4015420	OMIM	1	332	6233	176258
HP:0003676	HP:0003676	Progressive	0	KCNK3 CL E G H	3777	615344	Primary pulmonary hypertension 4	615344	C3809198	OMIM	1	141	6278	603220
HP:0003676	HP:0003676	Progressive	0	KCNQ4 CL E G H	9132	600101	DFNA 2 Nonsyndromic Hearing Loss	600101	C2677637	OMIM	1	251	6298	603537
HP:0003676	HP:0003676	Progressive	0	KCNT1 CL E G H	57582	614959	Early infantile epileptic encephalopathy 14	614959	C3554195	OMIM	1	1678	18865	608167
HP:0003676	HP:0003676	Progressive	0	KCTD17 CL E G H	79734	616398	Dystonia 26, myoclonic	616398	C4225341	OMIM	1	94	25705	616386
HP:0003676	HP:0003676	Progressive	0	KCTD7 CL E G H	154881	611726	Epilepsy, progressive myoclonic 3	611726	C2673257	OMIM	1	381	21957	611725
HP:0003676	HP:0003676	Progressive	0	KIF1A CL E G H	547	614213	Hereditary sensory and autonomic neuropathy type IIC	614213	C3280168	OMIM	1	2132	888	601255
HP:0003676	HP:0003676	Progressive	0	KIF1A CL E G H	547	614255	Mental retardation, autosomal dominant 9	614255	C3280283	OMIM	1	2132	888	601255
HP:0003676	HP:0003676	Progressive	0	KIF1C CL E G H	10749	611302	Ataxia, spastic, 2, autosomal recessive	611302	C1969796	OMIM	1	366	6317	603060
HP:0003676	HP:0003676	Progressive	0	KIF5A CL E G H	3798	604187	Spastic paraplegia 10	604187	C1858712	OMIM	1	744	6323	602821
HP:0003676	HP:0003676	Progressive	0	KLC2 CL E G H	64837	609541	Spastic paraplegia, optic atrophy, and neuropathy	609541	C1836010	OMIM	1	61	20716	611729
HP:0003676	HP:0003676	Progressive	0	KMT2B CL E G H	9757	617284	Dystonia 28, childhood-onset	617284	C4310633	OMIM	1	610	15840	606834
HP:0003676	HP:0003676	Progressive	0	LAMB1 CL E G H	3912	615191	Lissencephaly 5	615191	C3554657	OMIM	1	512	6486	150240
HP:0003676	HP:0003676	Progressive	0	LIMS2 CL E G H	55679	616827	Muscular dystrophy, limb-girdle, type 2W	616827	C4225192	OMIM	1	219	16084	607908
HP:0003676	HP:0003676	Progressive	0	LMNA CL E G H	4000	613205	Congenital muscular dystrophy, LMNA-related	613205	C2750785	OMIM	1	1622	6636	150330
HP:0003676	HP:0003676	Progressive	0	LMNA CL E G H	4000	616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	616516	C2750035	OMIM	1	1622	6636	150330
HP:0003676	HP:0003676	Progressive	0	LMNB1 CL E G H	4001	169500	Leukodystrophy, adult-onset, autosomal dominant	169500	C1868512	OMIM	1	169	6637	150340
HP:0003676	HP:0003676	Progressive	0	LMNB2 CL E G H	84823	616540	Epilepsy, progressive myoclonic, 9	616540	C4225289	OMIM	1	466	6638	150341
HP:0003676	HP:0003676	Progressive	0	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1446	1742	606453
HP:0003676	HP:0003676	Progressive	0	LYRM7 CL E G H	90624	615838	Mitochondrial complex III deficiency, nuclear type 8	615838	C4014440	OMIM	1	77	28072	615831
HP:0003676	HP:0003676	Progressive	0	MAPKBP1 CL E G H	23005	617271	Nephronophthisis 20	617271	C4310640	OMIM	1	133	29536	616786
HP:0003676	HP:0003676	Progressive	0	MARS CL E G H	4141	615486	Interstitial lung and liver disease	615486	C4225400	OMIM	1		6898	156560
HP:0003676	HP:0003676	Progressive	0	MECP2 CL E G H	4204	300260	MECP2 duplication syndrome	300260	C1846058	OMIM	1	1778	6990	300005
HP:0003676	HP:0003676	Progressive	0	MECR CL E G H	51102	617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	617282	C4310634	OMIM	1	85	19691	608205
HP:0003676	HP:0003676	Progressive	0	MED17 CL E G H	9440	613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	613668	C3150921	OMIM	1	357	2375	603810
HP:0003676	HP:0003676	Progressive	0	MFF CL E G H	56947	617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	617086	C4310726	OMIM	1	117	24858	614785
HP:0003676	HP:0003676	Progressive	0	MFSD2A CL E G H	84879	616486	Primary autosomal recessive microcephaly 15	616486	C4225310	OMIM	1	79	25897	614397
HP:0003676	HP:0003676	Progressive	0	MGME1 CL E G H	92667	615084	Mitochondrial DNA depletion syndrome 11	615084	C3554462	OMIM	1	78	16205	615076
HP:0003676	HP:0003676	Progressive	0	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	438	7190	603707
HP:0003676	HP:0003676	Progressive	0	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	239	7193	603708
HP:0003676	HP:0003676	Progressive	0	MPV17 CL E G H	4358	256810	Navajo neurohepatopathy	256810	C1850406	OMIM	1	200	7224	137960
HP:0003676	HP:0003676	Progressive	0	MRE11 CL E G H	4361	604391	Ataxia-telangiectasia-like disorder 1	604391	C1858391	OMIM	1	1729	7230	600814
HP:0003676	HP:0003676	Progressive	0	MRPS34 CL E G H	65993	617664	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	617664	C4540029	OMIM	1	83	16618	611994
HP:0003676	HP:0003676	Progressive	0	MTAP CL E G H	4507	112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	112250	C1862177	OMIM	1	239	7413	156540
HP:0003676	HP:0003676	Progressive	0	MYH14 CL E G H	79784	614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss	614369	C3280556	OMIM	1	857	23212	608568
HP:0003676	HP:0003676	Progressive	0	MYO1E CL E G H	4643	614131	Focal segmental glomerulosclerosis 6	614131	C3279905	OMIM	1	331	7599	601479
HP:0003676	HP:0003676	Progressive	0	NAGLU CL E G H	4669	616491	Charcot-Marie-Tooth disease, axonal type 2V	616491	C4225306	OMIM	1	775	7632	609701
HP:0003676	HP:0003676	Progressive	0	NALCN CL E G H	259232	615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	615419	C3809454	OMIM	1	653	19082	611549
HP:0003676	HP:0003676	Progressive	0	NBEAL2 CL E G H	23218	139090	Gray platelet syndrome	139090	C0272302	OMIM	1	353	31928	614169
HP:0003676	HP:0003676	Progressive	0	NDUFA12 CL E G H	55967	618244	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23	618244		OMIM	1	71	23987	614530
HP:0003676	HP:0003676	Progressive	0	NDUFAF2 CL E G H	91942	618233	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10	618233		OMIM	1	115	28086	609653
HP:0003676	HP:0003676	Progressive	0	NDUFB9 CL E G H	4715	618245	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24	618245		OMIM	1	118	7704	601445
HP:0003676	HP:0003676	Progressive	0	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	332	7707	157655
HP:0003676	HP:0003676	Progressive	0	NDUFS7 CL E G H	374291	618224	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3	618224		OMIM	1	164	7714	601825
HP:0003676	HP:0003676	Progressive	0	NEFH CL E G H	4744	616924	Charcot-Marie-Tooth disease, axonal, type 2CC	616924	C4310790	OMIM	1	465	7737	162230
HP:0003676	HP:0003676	Progressive	0	NIPA1 CL E G H	123606	600363	Spastic paraplegia 6	600363	C1838192	OMIM	1	576	17043	608145
HP:0003676	HP:0003676	Progressive	0	NKX6-2 CL E G H	84504	617560	SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY	617560	C4479653	OMIM	1	172	19321	605955
HP:0003676	HP:0003676	Progressive	0	NOP56 CL E G H	10528	614153	Spinocerebellar ataxia 36	614153	C3472711	OMIM	1	42	15911	614154
HP:0003676	HP:0003676	Progressive	0	NR4A2 CL E G H	4929	168600	Parkinson disease, late-onset	168600	C3160718	OMIM	1	112	7981	601828
HP:0003676	HP:0003676	Progressive	0	NUP107 CL E G H	57122	616730	Nephrotic syndrome, type 11	616730	C4225228	OMIM	1	149	29914	607617
HP:0003676	HP:0003676	Progressive	0	NUP133 CL E G H	55746	618177	NEPHROTIC SYNDROME, TYPE 18	618177		OMIM	1	81	18016	607613
HP:0003676	HP:0003676	Progressive	0	NUP160 CL E G H	23279	618178	NEPHROTIC SYNDROME, TYPE 19	618178		OMIM	1	59	18017	607614
HP:0003676	HP:0003676	Progressive	0	NUP85 CL E G H	79902	618176	NEPHROTIC SYNDROME, TYPE 17	618176		OMIM	1	54	8734	170285
HP:0003676	HP:0003676	Progressive	0	NUP93 CL E G H	9688	616892	Nephrotic syndrome, type 12	616892	C4225166	OMIM	1	135	28958	614351
HP:0003676	HP:0003676	Progressive	0	OPA1 CL E G H	4976	210000	Abortive cerebellar ataxia	210000	C0221061	OMIM	1	885	8140	605290
HP:0003676	HP:0003676	Progressive	0	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	885	8140	605290
HP:0003676	HP:0003676	Progressive	0	PABPN1 CL E G H	8106	164300	Oculopharyngeal muscular dystrophy	164300	C0270952	OMIM	1	63	8565	602279
HP:0003676	HP:0003676	Progressive	0	PCLO CL E G H	27445	608027	Pontocerebellar hypoplasia type 3	608027	C1842687	OMIM	1	1566	13406	604918
HP:0003676	HP:0003676	Progressive	0	PCNA CL E G H	5111	615919	Ataxia-telangiectasia-like disorder 2	615919	C4014676	OMIM	1	41	8729	176740
HP:0003676	HP:0003676	Progressive	0	PDGFB CL E G H	5155	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	105	8800	190040
HP:0003676	HP:0003676	Progressive	0	PDGFB CL E G H	5155	615483	Idiopathic basal ganglia calcification 5	615483	C3809645	OMIM	1	105	8800	190040
HP:0003676	HP:0003676	Progressive	0	PDGFRB CL E G H	5159	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	345	8804	173410
HP:0003676	HP:0003676	Progressive	0	PEX16 CL E G H	9409	614877	Peroxisome biogenesis disorder 8B	614877	C3553960	OMIM	1	346	8857	603360
HP:0003676	HP:0003676	Progressive	0	PIEZO2 CL E G H	63895	617146	Arthrogryposis, distal, with impaired proprioception and touch	617146	C4310692	OMIM	1	755	26270	613629
HP:0003676	HP:0003676	Progressive	0	PIK3R5 CL E G H	23533	615217	Ataxia-oculomotor apraxia 3	615217	C3554690	OMIM	1	48	30035	611317
HP:0003676	HP:0003676	Progressive	0	PKD2 CL E G H	5311	613095	Polycystic kidney disease 2	613095	C2751306	OMIM	1	651	9009	173910
HP:0003676	HP:0003676	Progressive	0	PLA2G6 CL E G H	8398	610217	Neurodegeneration with brain iron accumulation 2b	610217	C1857747	OMIM	1	598	9039	603604
HP:0003676	HP:0003676	Progressive	0	PLCE1 CL E G H	51196	610725	Nephrotic syndrome, type 3	610725	C1853124	OMIM	1	366	17175	608414
HP:0003676	HP:0003676	Progressive	0	PMPCB CL E G H	9512	617954	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6	617954	CN244567	OMIM	1	68	9119	603131
HP:0003676	HP:0003676	Progressive	0	PNPLA6 CL E G H	10908	215470	Boucher Neuhauser syndrome	215470	C1859093	OMIM	1	943	16268	603197
HP:0003676	HP:0003676	Progressive	0	PNPLA8 CL E G H	50640	251950	Mitochondrial myopathy with lactic acidosis	251950	C1855033	OMIM	1	90	28900	612123
HP:0003676	HP:0003676	Progressive	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:0003676	HP:0003676	Progressive	0	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	1917	9179	174763
HP:0003676	HP:0003676	Progressive	0	POLG CL E G H	5428	613662	Mitochondrial DNA depletion syndrome 4B, MNGIE type	613662	C3150914	OMIM	1	1917	9179	174763
HP:0003676	HP:0003676	Progressive	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:0003676	HP:0003676	Progressive	0	POLR3A CL E G H	11128	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	785	30074	614258
HP:0003676	HP:0003676	Progressive	0	POLR3B CL E G H	55703	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	368	30348	614366
HP:0003676	HP:0003676	Progressive	0	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	943	19139	606822
HP:0003676	HP:0003676	Progressive	0	PRDM8 CL E G H	56978	616640	Epilepsy, progressive myoclonic, 10	616640	C4225258	OMIM	1	365	13993	616639
HP:0003676	HP:0003676	Progressive	0	PRICKLE1 CL E G H	144165	612437	Progressive myoclonus epilepsy with ataxia	612437	C2676254	OMIM	1	488	17019	608500
HP:0003676	HP:0003676	Progressive	0	PRKRA CL E G H	8575	612067	Dystonia 16	612067	C2677567	OMIM	1	163	9438	603424
HP:0003676	HP:0003676	Progressive	0	PRUNE1 CL E G H	58497	617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	617481	C4479566	OMIM	1	41	13420	617413
HP:0003676	HP:0003676	Progressive	0	PTRH2 CL E G H	51651	616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	616263	C4015728	OMIM	1	41	24265	608625
HP:0003676	HP:0003676	Progressive	0	PUM1 CL E G H	9698	617931	SPINOCEREBELLAR ATAXIA 47	617931	CN244564	OMIM	1	115	14957	607204
HP:0003676	HP:0003676	Progressive	0	PYCR2 CL E G H	29920	616420	Leukodystrophy, hypomyelinating, 10	616420	C4225332	OMIM	1	104	30262	616406
HP:0003676	HP:0003676	Progressive	0	QARS CL E G H	5859	615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	615760	C4014239	OMIM	1		9751	603727
HP:0003676	HP:0003676	Progressive	0	RARS2 CL E G H	57038	611523	Pontocerebellar hypoplasia type 6	611523	C1969084	OMIM	1	513	21406	611524
HP:0003676	HP:0003676	Progressive	0	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	364	15864	610924
HP:0003676	HP:0003676	Progressive	0	REPS1 CL E G H	85021	617916	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7	617916	CN895590	OMIM	1	80	15578	614825
HP:0003676	HP:0003676	Progressive	0	RETREG1 CL E G H	54463	613115	Hereditary sensory and autonomic neuropathy type IIB	613115	C2751092	OMIM	1	453	25964	613114
HP:0003676	HP:0003676	Progressive	0	RNASEH1 CL E G H	246243	616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	C4225312	OMIM	1	104	18466	604123
HP:0003676	HP:0003676	Progressive	0	RNASEH2C CL E G H	84153	610329	Aicardi Goutieres syndrome 3	610329	C1835916	OMIM	1	235	24116	610330
HP:0003676	HP:0003676	Progressive	0	RRM2B CL E G H	50484	612075	Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy	612075	C2749861	OMIM	1	293	17296	604712
HP:0003676	HP:0003676	Progressive	0	RTN2 CL E G H	6253	604805	Spastic paraplegia 12	604805	C1858106	OMIM	1	184	10468	603183
HP:0003676	HP:0003676	Progressive	0	RUBCN CL E G H	9711	615705	Spinocerebellar ataxia, autosomal recessive 15	615705	C3810326	OMIM	1	118	28991	613516
HP:0003676	HP:0003676	Progressive	0	SBF1 CL E G H	6305	615284	Charcot-Marie-Tooth disease, type 4B3	615284	C3695063	OMIM	1	1157	10542	603560
HP:0003676	HP:0003676	Progressive	0	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2186	10680	600857
HP:0003676	HP:0003676	Progressive	0	SEC61A1 CL E G H	29927	617056	Hyperuricemic nephropathy, familial juvenile, 4	617056	C4310741	OMIM	1	138	18276	609213
HP:0003676	HP:0003676	Progressive	0	SETX CL E G H	23064	606002	Spinocerebellar ataxia autosomal recessive 1	606002	C1853761	OMIM	1	1290	445	608465
HP:0003676	HP:0003676	Progressive	0	SGCA CL E G H	6442	608099	Limb-girdle muscular dystrophy, type 2D	608099	C2936332	OMIM	1	537	10805	600119
HP:0003676	HP:0003676	Progressive	0	SGPL1 CL E G H	8879	617575	Nephrotic syndrome type 14	617575	C4539778	OMIM	1	89	10817	603729
HP:0003676	HP:0003676	Progressive	0	SIGMAR1 CL E G H	10280	605726	Distal spinal muscular atrophy, autosomal recessive 2	605726	C1854023	OMIM	1	206	8157	601978
HP:0003676	HP:0003676	Progressive	0	SLC12A6 CL E G H	9990	218000	Andermann syndrome	218000	C0795950	OMIM	1	911	10914	604878
HP:0003676	HP:0003676	Progressive	0	SLC20A2 CL E G H	6575	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	281	10947	158378
HP:0003676	HP:0003676	Progressive	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:0003676	HP:0003676	Progressive	0	SLC33A1 CL E G H	9197	614482	Congenital cataracts, hearing loss, and neurodegeneration	614482	C3280965	OMIM	1	145	95	603690
HP:0003676	HP:0003676	Progressive	0	SLC39A14 CL E G H	23516	617013	Hypermanganesemia with dystonia 2	617013	C4310765	OMIM	1	176	20858	608736
HP:0003676	HP:0003676	Progressive	0	SLC44A4 CL E G H	80736	617606	DEAFNESS, AUTOSOMAL DOMINANT 72	617606	C4539886	OMIM	1	100	13941	606107
HP:0003676	HP:0003676	Progressive	0	SLC52A2 CL E G H	79581	614707	Brown-Vialetto-Van Laere syndrome 2	614707	C3553538	OMIM	1	458	30224	607882
HP:0003676	HP:0003676	Progressive	0	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	399	16187	613350
HP:0003676	HP:0003676	Progressive	0	SLC6A3 CL E G H	6531	613135	Infantile Parkinsonism-dystonia	613135	C2751067	OMIM	1	479	11049	126455
HP:0003676	HP:0003676	Progressive	0	SLC9A1 CL E G H	6548	616291	Lichtenstein-knorr syndrome	616291	C4225383	OMIM	1	66	11071	107310
HP:0003676	HP:0003676	Progressive	0	SMAD9 CL E G H	4093	615342	Primary pulmonary hypertension 2	615342	C3888002	OMIM	1	150	6774	603295
HP:0003676	HP:0003676	Progressive	0	SMN1 CL E G H	6606	253400	Kugelberg-Welander disease	253400	C0152109	OMIM	1	208	11117	600354
HP:0003676	HP:0003676	Progressive	0	SNCA CL E G H	6622	168601	Parkinson disease 1	168601	C1868595	OMIM	1	177	11138	163890
HP:0003676	HP:0003676	Progressive	0	SNCAIP CL E G H	9627	168600	Parkinson disease, late-onset	168600	C3160718	OMIM	1	118	11139	603779
HP:0003676	HP:0003676	Progressive	0	SNORD118 CL E G H	727676	614561	Leukoencephalopathy, brain calcifications, and cysts	614561	C3281200	OMIM	1	130	32952	616663
HP:0003676	HP:0003676	Progressive	0	SOST CL E G H	50964	122860	Craniodiaphyseal dysplasia, autosomal dominant	122860	C2675746	OMIM	1	85	13771	605740
HP:0003676	HP:0003676	Progressive	0	SOX18 CL E G H	54345	137940	Glomerulonephritis with sparse hair and telangiectases	137940	C1841989	OMIM	1	76	11194	601618
HP:0003676	HP:0003676	Progressive	0	SPAST CL E G H	6683	182601	Spastic paraplegia 4, autosomal dominant	182601	C1866855	OMIM	1	1014	11233	604277
HP:0003676	HP:0003676	Progressive	0	SPG11 CL E G H	80208	604360	Spastic paraplegia 11, autosomal recessive	604360	C1858479	OMIM	1	2165	11226	610844
HP:0003676	HP:0003676	Progressive	0	SQSTM1 CL E G H	8878	616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	616437	C4225326	OMIM	1	542	11280	601530
HP:0003676	HP:0003676	Progressive	0	SQSTM1 CL E G H	8878	617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	617145	C4310693	OMIM	1	542	11280	601530
HP:0003676	HP:0003676	Progressive	0	STIM1 CL E G H	6786	185070	Stormorken syndrome	185070	C1861451	OMIM	1	522	11386	605921
HP:0003676	HP:0003676	Progressive	0	STUB1 CL E G H	10273	618093	SPINOCEREBELLAR ATAXIA 48	618093		OMIM	1	170	11427	607207
HP:0003676	HP:0003676	Progressive	0	STUB1 CL E G H	10273	615768	Spinocerebellar ataxia, autosomal recessive 16	615768	C4014261	OMIM	1	170	11427	607207
HP:0003676	HP:0003676	Progressive	0	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	355	11474	185620
HP:0003676	HP:0003676	Progressive	0	SYNJ1 CL E G H	8867	615530	Parkinson disease 20, early-onset	615530	C3809824	OMIM	1	1046	11503	604297
HP:0003676	HP:0003676	Progressive	0	TBC1D24 CL E G H	57465	220500	Digitorenocerebral syndrome	220500	C1857345	OMIM	1	795	29203	613577
HP:0003676	HP:0003676	Progressive	0	TBC1D24 CL E G H	57465	615338	Early infantile epileptic encephalopathy 16	615338	C3809173	OMIM	1	795	29203	613577
HP:0003676	HP:0003676	Progressive	0	TBCE CL E G H	6905	617207	Encephalopathy, progressive, with amyotrophy and optic atrophy	617207	C4310667	OMIM	1	357	11582	604934
HP:0003676	HP:0003676	Progressive	0	TBK1 CL E G H	29110	616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	616439	C4225325	OMIM	1	294	11584	604834
HP:0003676	HP:0003676	Progressive	0	TBP CL E G H	6908	607136	Spinocerebellar ataxia 17	607136	C1846707	OMIM	1	116	11588	600075
HP:0003676	HP:0003676	Progressive	0	TFAM CL E G H	7019	617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	617156	C4310690	OMIM	1	58	11741	600438
HP:0003676	HP:0003676	Progressive	0	TJP2 CL E G H	9414	615878	Progressive familial intrahepatic cholestasis 4	615878	C2931067	OMIM	1	545	11828	607709
HP:0003676	HP:0003676	Progressive	0	TK2 CL E G H	7084	609560	Mitochondrial DNA depletion syndrome 2	609560	C3149750	OMIM	1	356	11831	188250
HP:0003676	HP:0003676	Progressive	0	TNFRSF11A CL E G H	8792	174810	Familial expansile osteolysis	174810	C0432292	OMIM	1	420	11908	603499
HP:0003676	HP:0003676	Progressive	0	TNFRSF11B CL E G H	4982	239000	Hyperphosphatasemia with bone disease	239000	C0268414	OMIM	1	168	11909	602643
HP:0003676	HP:0003676	Progressive	0	TRAK1 CL E G H	22906	618201	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68	618201		OMIM	1	106	29947	608112
HP:0003676	HP:0003676	Progressive	0	TRAPPC12 CL E G H	51112	617669	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY	617669	C4540059	OMIM	1	114	24284	614139
HP:0003676	HP:0003676	Progressive	0	TRAPPC6B CL E G H	122553	617862	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY	617862	CN787271	OMIM	1	55	23066	610397
HP:0003676	HP:0003676	Progressive	0	TREX1 CL E G H	11277	192315	Vasculopathy, retinal, with cerebral leukodystrophy	192315	C1860518	OMIM	1	327	12269	606609
HP:0003676	HP:0003676	Progressive	0	TRPC3 CL E G H	7222	616410	Spinocerebellar ataxia 41	616410	C4225158	OMIM	1	44	12335	602345
HP:0003676	HP:0003676	Progressive	0	TTR CL E G H	7276	105210	Amyloidogenic transthyretin amyloidosis	105210	C2751492	OMIM	1	341	12405	176300
HP:0003676	HP:0003676	Progressive	0	TUBB4A CL E G H	10382	612438	Leukodystrophy, hypomyelinating, 6	612438	C2676244	OMIM	1	219	20774	602662
HP:0003676	HP:0003676	Progressive	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:0003676	HP:0003676	Progressive	0	TWNK CL E G H	56652	271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	271245	C1849096	OMIM	1	308	1160	606075
HP:0003676	HP:0003676	Progressive	0	TXN2 CL E G H	25828	616811	Combined oxidative phosphorylation deficiency 29	616811	C4225200	OMIM	1	50	17772	609063
HP:0003676	HP:0003676	Progressive	0	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	803	3148	131222
HP:0003676	HP:0003676	Progressive	0	UBA5 CL E G H	79876	617133	Spinocerebellar ataxia, autosomal recessive 24	617133	C4310699	OMIM	1	157	23230	610552
HP:0003676	HP:0003676	Progressive	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:0003676	HP:0003676	Progressive	0	UCHL1 CL E G H	7345	615491	Spastic paraplegia 79, autosomal recessive	615491	C3809665	OMIM	1	111	12513	191342
HP:0003676	HP:0003676	Progressive	0	UMOD CL E G H	7369	162000	Familial juvenile gout	162000	C0268113	OMIM	1	265	12559	191845
HP:0003676	HP:0003676	Progressive	0	VAC14 CL E G H	55697	617054	Striatonigral degeneration, childhood-onset	617054	C4310743	OMIM	1	220	25507	604632
HP:0003676	HP:0003676	Progressive	0	VARS CL E G H	7407	617802	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY	617802	C4540493	OMIM	1		12651	192150
HP:0003676	HP:0003676	Progressive	0	VCP CL E G H	7415	616687	Charcot-Marie-Tooth disease, axonal, type 2y	616687	C4225244	OMIM	1	473	12666	601023
HP:0003676	HP:0003676	Progressive	0	VPS13A CL E G H	23230	200150	Choreoacanthocytosis	200150	C0393576	OMIM	1	1735	1908	605978
HP:0003676	HP:0003676	Progressive	0	VPS13C CL E G H	54832	616840	Parkinson disease 23, autosomal recessive early-onset	616840	C4225186	OMIM	1	521	23594	608879
HP:0003676	HP:0003676	Progressive	0	VPS53 CL E G H	55275	615851	Pontocerebellar hypoplasia, type 2e	615851	C4014488	OMIM	1	315	25608	615850
HP:0003676	HP:0003676	Progressive	0	VRK1 CL E G H	7443	607596	Pontocerebellar hypoplasia type 1A	607596	CN032785	OMIM	1	385	12718	602168
HP:0003676	HP:0003676	Progressive	0	WASHC5 CL E G H	9897	603563	Spastic paraplegia 8	603563	C1863704	OMIM	1	527	28984	610657
HP:0003676	HP:0003676	Progressive	0	WDR45B CL E G H	56270	617977	NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES	617977	CN244929	OMIM	1	61	25072	609226
HP:0003676	HP:0003676	Progressive	0	WT1 CL E G H	7490	256370	Diffuse mesangial sclerosis	256370	C0268747	OMIM	1	1146	12796	607102
HP:0003676	HP:0003676	Progressive	0	XPR1 CL E G H	9213	616413	Basal ganglia calcification, idiopathic, 6	616413	C4225335	OMIM	1	167	12827	605237
HP:0003676	HP:0003676	Progressive	0	XRCC1 CL E G H	7515	617633	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26	617633	C4539948	OMIM	1	52	12828	194360
HP:0003676	HP:0003676	Progressive	0	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	156	24249	610957
HP:0003676	HP:0003676	Progressive	0	ZFYVE26 CL E G H	23503	270700	Spastic paraplegia 15	270700	C1849128	OMIM	1	1894	20761	612012
HPO disease - gene - phenotype less frequent non-typical associations:

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

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

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

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