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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003676	HP:0003676	Progressive	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.	57
HP:0003676	HP:0003676	Progressive	0	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure	.	143
HP:0003676	HP:0003676	Progressive	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.	135
HP:0003676	HP:0003676	Progressive	0	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0003676	HP:0003676	Progressive	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0003676	HP:0003676	Progressive	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome	.	22
HP:0003676	HP:0003676	Progressive	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.	4
HP:0003676	HP:0003676	Progressive	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.	26
HP:0003676	HP:0003676	Progressive	0	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive	.	86
HP:0003676	HP:0003676	Progressive	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy	.	1
HP:0003676	HP:0003676	Progressive	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6	.	60
HP:0003676	HP:0003676	Progressive	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.	4
HP:0003676	HP:0003676	Progressive	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.	1
HP:0003676	HP:0003676	Progressive	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0003676	HP:0003676	Progressive	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	.	89
HP:0003676	HP:0003676	Progressive	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.	114
HP:0003676	HP:0003676	Progressive	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.	114
HP:0003676	HP:0003676	Progressive	0	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L	.	304
HP:0003676	HP:0003676	Progressive	0	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome	.	49
HP:0003676	HP:0003676	Progressive	0	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive	.	165
HP:0003676	HP:0003676	Progressive	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.	78
HP:0003676	HP:0003676	Progressive	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.	78
HP:0003676	HP:0003676	Progressive	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.	17
HP:0003676	HP:0003676	Progressive	0	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0003676	HP:0003676	Progressive	0	ATL1 CL E G H	51062	11231	OMIM:613708	Neuropathy, hereditary sensory, type ID	.	71
HP:0003676	HP:0003676	Progressive	0	ATP11A CL E G H	23250	13552	OMIM:619810	DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84
HP:0003676	HP:0003676	Progressive	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.	11
HP:0003676	HP:0003676	Progressive	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0003676	HP:0003676	Progressive	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0003676	HP:0003676	Progressive	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.	25
HP:0003676	HP:0003676	Progressive	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.	20
HP:0003676	HP:0003676	Progressive	0	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy	.	105
HP:0003676	HP:0003676	Progressive	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.	114
HP:0003676	HP:0003676	Progressive	0	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6	.	449
HP:0003676	HP:0003676	Progressive	0	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50	.	10
HP:0003676	HP:0003676	Progressive	0	CCNO CL E G H	10309	18576	OMIM:615872	Ciliary dyskinesia, primary, 29	.	23
HP:0003676	HP:0003676	Progressive	0	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8	.	1
HP:0003676	HP:0003676	Progressive	0	CFHR5 CL E G H	81494	24668	OMIM:614809	Cfhr5 deficiency	.	47
HP:0003676	HP:0003676	Progressive	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.	11
HP:0003676	HP:0003676	Progressive	0	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel	.	88
HP:0003676	HP:0003676	Progressive	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	.	38
HP:0003676	HP:0003676	Progressive	0	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6	.	16
HP:0003676	HP:0003676	Progressive	0	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9	.	46
HP:0003676	HP:0003676	Progressive	0	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant	.	161
HP:0003676	HP:0003676	Progressive	0	COL4A3 CL E G H	1285	2204	OMIM:203780	Alport syndrome, autosomal recessive	.	161
HP:0003676	HP:0003676	Progressive	0	COL4A4 CL E G H	1286	2206	OMIM:203780	Alport syndrome, autosomal recessive	.	174
HP:0003676	HP:0003676	Progressive	0	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked	.	678
HP:0003676	HP:0003676	Progressive	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0003676	HP:0003676	Progressive	0	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive	.	478
HP:0003676	HP:0003676	Progressive	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0003676	HP:0003676	Progressive	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0003676	HP:0003676	Progressive	0	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive	.
HP:0003676	HP:0003676	Progressive	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0003676	HP:0003676	Progressive	0	COQ8B CL E G H	79934	19041	OMIM:615573	Nephrotic syndrome, type 9	.	35
HP:0003676	HP:0003676	Progressive	0	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8	.
HP:0003676	HP:0003676	Progressive	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.	149
HP:0003676	HP:0003676	Progressive	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.	160
HP:0003676	HP:0003676	Progressive	0	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13	.	20
HP:0003676	HP:0003676	Progressive	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive	.	57
HP:0003676	HP:0003676	Progressive	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0003676	HP:0003676	Progressive	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal	.	8
HP:0003676	HP:0003676	Progressive	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	.	29
HP:0003676	HP:0003676	Progressive	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18	.
HP:0003676	HP:0003676	Progressive	0	DGKE CL E G H	8526	2852	OMIM:615008	Nephrotic syndrome, type 7	.	17
HP:0003676	HP:0003676	Progressive	0	DIABLO CL E G H	56616	21528	OMIM:614152	Deafness, autosomal dominant 64	.	11
HP:0003676	HP:0003676	Progressive	0	DMXL2 CL E G H	23312	2938	OMIM:617605	DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA71		3
HP:0003676	HP:0003676	Progressive	0	DNAJB11 CL E G H	51726	14889	OMIM:618061	Polycystic kidney disease 6 with or without polycystic liver disease	.
HP:0003676	HP:0003676	Progressive	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.	94
HP:0003676	HP:0003676	Progressive	0	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	.	145
HP:0003676	HP:0003676	Progressive	0	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE	.	145
HP:0003676	HP:0003676	Progressive	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0003676	HP:0003676	Progressive	0	DRD3 CL E G H	1814	3024	OMIM:190300	Tremor, hereditary essential, 1	.	21
HP:0003676	HP:0003676	Progressive	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0003676	HP:0003676	Progressive	0	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58	.	6
HP:0003676	HP:0003676	Progressive	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation	.	5
HP:0003676	HP:0003676	Progressive	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	.
HP:0003676	HP:0003676	Progressive	0	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive	.	2
HP:0003676	HP:0003676	Progressive	0	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.	18
HP:0003676	HP:0003676	Progressive	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0003676	HP:0003676	Progressive	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.	76
HP:0003676	HP:0003676	Progressive	0	FAN1 CL E G H	22909	29170	OMIM:614817	Interstitial nephritis, karyomegalic	.	15
HP:0003676	HP:0003676	Progressive	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy	.	68
HP:0003676	HP:0003676	Progressive	0	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J	.	111
HP:0003676	HP:0003676	Progressive	0	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4	.	184
HP:0003676	HP:0003676	Progressive	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.	33
HP:0003676	HP:0003676	Progressive	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0003676	HP:0003676	Progressive	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.	30
HP:0003676	HP:0003676	Progressive	0	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0003676	HP:0003676	Progressive	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0003676	HP:0003676	Progressive	0	GNAS CL E G H	2778	4392	OMIM:166350	Osseous heteroplasia, progressive	.	101
HP:0003676	HP:0003676	Progressive	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0003676	HP:0003676	Progressive	0	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6	.	88
HP:0003676	HP:0003676	Progressive	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49	.	4
HP:0003676	HP:0003676	Progressive	0	GRHL2 CL E G H	79977	2799	OMIM:608641	Deafness, autosomal dominant nonsyndromic sensorineural 28	.	33
HP:0003676	HP:0003676	Progressive	0	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive	.	12
HP:0003676	HP:0003676	Progressive	0	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type	.	11
HP:0003676	HP:0003676	Progressive	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0003676	HP:0003676	Progressive	0	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0003676	HP:0003676	Progressive	0	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant	.	46
HP:0003676	HP:0003676	Progressive	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.	16
HP:0003676	HP:0003676	Progressive	0	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E	.	135
HP:0003676	HP:0003676	Progressive	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	.	7
HP:0003676	HP:0003676	Progressive	0	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0003676	HP:0003676	Progressive	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	.
HP:0003676	HP:0003676	Progressive	0	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5	.	1
HP:0003676	HP:0003676	Progressive	0	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4	.	7
HP:0003676	HP:0003676	Progressive	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0003676	HP:0003676	Progressive	0	KCNC1 CL E G H	3746	6233	OMIM:616187	Epilepsy, progressive myoclonic 7	.	6
HP:0003676	HP:0003676	Progressive	0	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4	.	7
HP:0003676	HP:0003676	Progressive	0	KCNQ4 CL E G H	9132	6298	OMIM:600101	Deafness, autosomal dominant nonsyndromic sensorineural 2	.	76
HP:0003676	HP:0003676	Progressive	0	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14	.	321
HP:0003676	HP:0003676	Progressive	0	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic	.	1
HP:0003676	HP:0003676	Progressive	0	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions	.	106
HP:0003676	HP:0003676	Progressive	0	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9	.	276
HP:0003676	HP:0003676	Progressive	0	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC	.	276
HP:0003676	HP:0003676	Progressive	0	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive	.	38
HP:0003676	HP:0003676	Progressive	0	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.	93
HP:0003676	HP:0003676	Progressive	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.	1
HP:0003676	HP:0003676	Progressive	0	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset	.	11
HP:0003676	HP:0003676	Progressive	0	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5	.	71
HP:0003676	HP:0003676	Progressive	0	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W	.	10
HP:0003676	HP:0003676	Progressive	0	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	.	645
HP:0003676	HP:0003676	Progressive	0	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related	.	645
HP:0003676	HP:0003676	Progressive	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.	44
HP:0003676	HP:0003676	Progressive	0	LMNB2 CL E G H	84823	6638	OMIM:616540	Epilepsy, progressive myoclonic, 9	.	11
HP:0003676	HP:0003676	Progressive	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.	10
HP:0003676	HP:0003676	Progressive	0	MAP2K1 CL E G H	5604	6840	OMIM:155950	Melorheostosis, isolated	.	134
HP:0003676	HP:0003676	Progressive	0	MAPKBP1 CL E G H	23005	29536	OMIM:617271	Nephronophthisis 20	.	6
HP:0003676	HP:0003676	Progressive	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.	140
HP:0003676	HP:0003676	Progressive	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease	.
HP:0003676	HP:0003676	Progressive	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0003676	HP:0003676	Progressive	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	.	6
HP:0003676	HP:0003676	Progressive	0	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	.	23
HP:0003676	HP:0003676	Progressive	0	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	.	17
HP:0003676	HP:0003676	Progressive	0	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive	.	5
HP:0003676	HP:0003676	Progressive	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	.	11
HP:0003676	HP:0003676	Progressive	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0003676	HP:0003676	Progressive	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0003676	HP:0003676	Progressive	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.	26
HP:0003676	HP:0003676	Progressive	0	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE	.	56
HP:0003676	HP:0003676	Progressive	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0003676	HP:0003676	Progressive	0	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1	.	532
HP:0003676	HP:0003676	Progressive	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	.	1
HP:0003676	HP:0003676	Progressive	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.	85
HP:0003676	HP:0003676	Progressive	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7	.
HP:0003676	HP:0003676	Progressive	0	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss	.	227
HP:0003676	HP:0003676	Progressive	0	MYO1E CL E G H	4643	7599	OMIM:614131	Focal segmental glomerulosclerosis 6	.	3
HP:0003676	HP:0003676	Progressive	0	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive	.
HP:0003676	HP:0003676	Progressive	0	NAGLU CL E G H	4669	7632	OMIM:616491	Charcot-Marie-Tooth disease, axonal, type 2V	.	72
HP:0003676	HP:0003676	Progressive	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.	48
HP:0003676	HP:0003676	Progressive	0	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome	.	127
HP:0003676	HP:0003676	Progressive	0	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23	.	7
HP:0003676	HP:0003676	Progressive	0	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10	.	26
HP:0003676	HP:0003676	Progressive	0	NDUFB9 CL E G H	4715	7704	OMIM:618245	Mitochondrial complex I deficiency, nuclear type 24	.	16
HP:0003676	HP:0003676	Progressive	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.	81
HP:0003676	HP:0003676	Progressive	0	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3	.	38
HP:0003676	HP:0003676	Progressive	0	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC	.	24
HP:0003676	HP:0003676	Progressive	0	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.	117
HP:0003676	HP:0003676	Progressive	0	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	.	2
HP:0003676	HP:0003676	Progressive	0	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36		9
HP:0003676	HP:0003676	Progressive	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.	27
HP:0003676	HP:0003676	Progressive	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7	.	5
HP:0003676	HP:0003676	Progressive	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11	.	5
HP:0003676	HP:0003676	Progressive	0	NUP133 CL E G H	55746	18016	OMIM:618177	NEPHROTIC SYNDROME, TYPE 18; NPHS18		1
HP:0003676	HP:0003676	Progressive	0	NUP160 CL E G H	23279	18017	OMIM:618178	Nephrotic syndrome, type 19	.
HP:0003676	HP:0003676	Progressive	0	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9	.	1
HP:0003676	HP:0003676	Progressive	0	NUP85 CL E G H	79902	8734	OMIM:618176	Nephrotic syndrome, type 17	.
HP:0003676	HP:0003676	Progressive	0	NUP93 CL E G H	9688	28958	OMIM:616892	Nephrotic syndrome, type 12	.	5
HP:0003676	HP:0003676	Progressive	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome	.	214
HP:0003676	HP:0003676	Progressive	0	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.	214
HP:0003676	HP:0003676	Progressive	0	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12		62
HP:0003676	HP:0003676	Progressive	0	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy	.	10
HP:0003676	HP:0003676	Progressive	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.	6
HP:0003676	HP:0003676	Progressive	0	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2	.	1
HP:0003676	HP:0003676	Progressive	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	9
HP:0003676	HP:0003676	Progressive	0	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5	.	9
HP:0003676	HP:0003676	Progressive	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	28
HP:0003676	HP:0003676	Progressive	0	PDXK CL E G H	8566	8819	OMIM:618511	Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy	.
HP:0003676	HP:0003676	Progressive	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B	.	59
HP:0003676	HP:0003676	Progressive	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch	.	77
HP:0003676	HP:0003676	Progressive	0	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3	.	11
HP:0003676	HP:0003676	Progressive	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2	.	106
HP:0003676	HP:0003676	Progressive	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.	133
HP:0003676	HP:0003676	Progressive	0	PLCE1 CL E G H	51196	17175	OMIM:610725	Nephrotic syndrome, type 3	.	118
HP:0003676	HP:0003676	Progressive	0	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6	.
HP:0003676	HP:0003676	Progressive	0	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome		103
HP:0003676	HP:0003676	Progressive	0	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.	3
HP:0003676	HP:0003676	Progressive	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	464
HP:0003676	HP:0003676	Progressive	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	.	464
HP:0003676	HP:0003676	Progressive	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0003676	HP:0003676	Progressive	0	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	.	45
HP:0003676	HP:0003676	Progressive	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	138
HP:0003676	HP:0003676	Progressive	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	67
HP:0003676	HP:0003676	Progressive	0	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3	.	180
HP:0003676	HP:0003676	Progressive	0	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10	.	1
HP:0003676	HP:0003676	Progressive	0	PRICKLE1 CL E G H	144165	17019	OMIM:612437	Epilepsy, progressive myoclonic 1B	.	133
HP:0003676	HP:0003676	Progressive	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.	37
HP:0003676	HP:0003676	Progressive	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.	8
HP:0003676	HP:0003676	Progressive	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.	6
HP:0003676	HP:0003676	Progressive	0	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47	.	1
HP:0003676	HP:0003676	Progressive	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.	11
HP:0003676	HP:0003676	Progressive	0	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	.
HP:0003676	HP:0003676	Progressive	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.	93
HP:0003676	HP:0003676	Progressive	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency	.	10
HP:0003676	HP:0003676	Progressive	0	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7	.
HP:0003676	HP:0003676	Progressive	0	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB	.	54
HP:0003676	HP:0003676	Progressive	0	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	.	3
HP:0003676	HP:0003676	Progressive	0	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3	.	60
HP:0003676	HP:0003676	Progressive	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	.	125
HP:0003676	HP:0003676	Progressive	0	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.	25
HP:0003676	HP:0003676	Progressive	0	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15		9
HP:0003676	HP:0003676	Progressive	0	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3	.	16
HP:0003676	HP:0003676	Progressive	0	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5	.	2
HP:0003676	HP:0003676	Progressive	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1	.	162
HP:0003676	HP:0003676	Progressive	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D	.	132
HP:0003676	HP:0003676	Progressive	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.	8
HP:0003676	HP:0003676	Progressive	0	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2	.	6
HP:0003676	HP:0003676	Progressive	0	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0003676	HP:0003676	Progressive	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0003676	HP:0003676	Progressive	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	70
HP:0003676	HP:0003676	Progressive	0	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	.	68
HP:0003676	HP:0003676	Progressive	0	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration	.	48
HP:0003676	HP:0003676	Progressive	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2	.	5
HP:0003676	HP:0003676	Progressive	0	SLC44A4 CL E G H	80736	13941	OMIM:617606	Deafness, autosomal dominant 72	.	1
HP:0003676	HP:0003676	Progressive	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	.	47
HP:0003676	HP:0003676	Progressive	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0003676	HP:0003676	Progressive	0	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1	.	13
HP:0003676	HP:0003676	Progressive	0	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome	.	2
HP:0003676	HP:0003676	Progressive	0	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2	.	132
HP:0003676	HP:0003676	Progressive	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III	.	22
HP:0003676	HP:0003676	Progressive	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III	.	1
HP:0003676	HP:0003676	Progressive	0	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant	.	65
HP:0003676	HP:0003676	Progressive	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.	35
HP:0003676	HP:0003676	Progressive	0	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts	.	6
HP:0003676	HP:0003676	Progressive	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.	26
HP:0003676	HP:0003676	Progressive	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7
HP:0003676	HP:0003676	Progressive	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0003676	HP:0003676	Progressive	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0003676	HP:0003676	Progressive	0	SPRY2 CL E G H	10253	11270	OMIM:616818	Iga nephropathy, susceptibility to, 3	.	1
HP:0003676	HP:0003676	Progressive	0	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.	62
HP:0003676	HP:0003676	Progressive	0	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	.	62
HP:0003676	HP:0003676	Progressive	0	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome	.	31
HP:0003676	HP:0003676	Progressive	0	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0003676	HP:0003676	Progressive	0	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16	.	14
HP:0003676	HP:0003676	Progressive	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	.	1129
HP:0003676	HP:0003676	Progressive	0	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset	.	9
HP:0003676	HP:0003676	Progressive	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	.	271
HP:0003676	HP:0003676	Progressive	0	TBC1D24 CL E G H	57465	29203	OMIM:615338	Epileptic encephalopathy, early infantile, 16	.	271
HP:0003676	HP:0003676	Progressive	0	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO		52
HP:0003676	HP:0003676	Progressive	0	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.	20
HP:0003676	HP:0003676	Progressive	0	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.	7
HP:0003676	HP:0003676	Progressive	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.	7
HP:0003676	HP:0003676	Progressive	0	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	.	1
HP:0003676	HP:0003676	Progressive	0	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4		149
HP:0003676	HP:0003676	Progressive	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.	103
HP:0003676	HP:0003676	Progressive	0	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis	.	72
HP:0003676	HP:0003676	Progressive	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset	.	72
HP:0003676	HP:0003676	Progressive	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	.	44
HP:0003676	HP:0003676	Progressive	0	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68	.
HP:0003676	HP:0003676	Progressive	0	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	.	2
HP:0003676	HP:0003676	Progressive	0	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	.
HP:0003676	HP:0003676	Progressive	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	.
HP:0003676	HP:0003676	Progressive	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.	56
HP:0003676	HP:0003676	Progressive	0	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0003676	HP:0003676	Progressive	0	TRPC3 CL E G H	7222	12335	OMIM:616410	Spinocerebellar ataxia 41	.	1
HP:0003676	HP:0003676	Progressive	0	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10	.	7128
HP:0003676	HP:0003676	Progressive	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.	107
HP:0003676	HP:0003676	Progressive	0	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.	66
HP:0003676	HP:0003676	Progressive	0	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	.	113
HP:0003676	HP:0003676	Progressive	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.	113
HP:0003676	HP:0003676	Progressive	0	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29	.	1
HP:0003676	HP:0003676	Progressive	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	138
HP:0003676	HP:0003676	Progressive	0	UBA5 CL E G H	79876	23230	OMIM:617133	Spinocerebellar ataxia, autosomal recessive 24	.	13
HP:0003676	HP:0003676	Progressive	0	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia	.	20
HP:0003676	HP:0003676	Progressive	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.	21
HP:0003676	HP:0003676	Progressive	0	UMOD CL E G H	7369	12559	OMIM:162000	Hyperuricemic nephropathy, familial juvenile, 1	.	66
HP:0003676	HP:0003676	Progressive	0	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset	.	6
HP:0003676	HP:0003676	Progressive	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0003676	HP:0003676	Progressive	0	VCP CL E G H	7415	12666	OMIM:616687	Charcot-Marie-Tooth disease, axonal, type 2Y	.	63
HP:0003676	HP:0003676	Progressive	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.	130
HP:0003676	HP:0003676	Progressive	0	VPS13C CL E G H	54832	23594	OMIM:616840	Parkinson disease 23, autosomal recessive early-onset	.	8
HP:0003676	HP:0003676	Progressive	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0003676	HP:0003676	Progressive	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.	32
HP:0003676	HP:0003676	Progressive	0	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.	83
HP:0003676	HP:0003676	Progressive	0	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	.	1
HP:0003676	HP:0003676	Progressive	0	WT1 CL E G H	7490	12796	OMIM:256370	Nephrotic syndrome, type 4	.	177
HP:0003676	HP:0003676	Progressive	0	XPR1 CL E G H	9213	12827	OMIM:616413	Basal ganglia calcification, idiopathic, 6	.	4
HP:0003676	HP:0003676	Progressive	0	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26	.	4
HP:0003676	HP:0003676	Progressive	0	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	.	45
HP:0003676	HP:0003676	Progressive	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.	189

Genes (269) :AAAS AARS2 ABCD1 ABCD3 ACER3 ADA2 ADH1C ADK AFG3L2 AGTPBP1 AIFM1 AIMP1 AIMP2 AKT1 ALDH18A1 ALS2 ANO5 ANTXR2 AP5Z1 ASAH1 ASNS ATAD1 ATL1 ATP11A ATXN2 ATXN3 ATXN8OS B4GALNT1 BRAT1 BSCL2 C19ORF12 CACNA1A CAD CCNO CERS1 CFHR5 CHCHD10 CHRND CLPB COASY COCH COL4A3 COL4A4 COL4A5 COL6A1 COL6A2 COL6A3 COPB2 COQ2 COQ8B CRAT CSF1R CTC1 CTSF CYP7B1 DARS1 DCDC2 DDHD2 DEGS1 DGKE DIABLO DMXL2 DNAJB11 DNM1L DNMT1 DPM1 DRD3 ELP1 ELP2 EMC1 EPRS1 ERLIN1 ERLIN2 EXOSC9 FA2H FAN1 FHL1 FIG4 FKTN FTL GBA1 GBA2 GEMIN5 GLUD2 GNAS GNS GOSR2 GPT2 GRHL2 HINT1 HK1 HPDL HSPD1 IBA57 INF2 INPP5K IREB2 IRF2BPL ISCA1 ISCA2 JAG2 KCNC1 KCNK3 KCNQ4 KCNT1 KCTD17 KCTD7 KIF1A KIF1C KIF5A KLC2 KMT2B LAMB1 LIMS2 LMNA LMNB1 LMNB2 LYRM7 MAP2K1 MAPKBP1 MAPT MARS1 MECP2 MECR MED17 MFF MFSD2A MGME1 MICOS13 MOCS1 MOCS2 MPV17 MRE11 MRPS34 MTAP MTRFR MYH14 MYO1E MYORG NAGLU NALCN NBEAL2 NDUFA12 NDUFAF2 NDUFB9 NDUFS1 NDUFS7 NEFH NIPA1 NKX6-2 NOP56 NR4A2 NUP107 NUP133 NUP160 NUP214 NUP85 NUP93 OPA1 OPTN PABPN1 PCLO PCNA PDGFB PDGFRB PDXK PEX16 PIEZO2 PIK3R5 PKD2 PLA2G6 PLCE1 PMPCB PNPLA6 PNPLA8 POLG POLG2 POLR3A POLR3B POMGNT1 PRDM8 PRICKLE1 PRKRA PRUNE1 PTRH2 PUM1 PYCR2 QARS1 RARS2 RBCK1 REPS1 RETREG1 RNASEH1 RNASEH2C RRM2B RTN2 RUBCN SBF1 SEC61A1 SETX SGCA SGPL1 SIGMAR1 SLC12A6 SLC20A2 SLC25A4 SLC33A1 SLC39A14 SLC44A4 SLC52A2 SLC52A3 SLC6A3 SLC9A1 SMAD9 SMN1 SMN2 SNCA SNCAIP SNORD118 SOST SOX18 SPAST SPG11 SPRY2 SQSTM1 STIM1 STUB1 SYNE1 SYNJ1 TBC1D24 TBCE TBK1 TBP TFAM TJP2 TK2 TNFRSF11A TNFRSF11B TRAK1 TRAPPC12 TRAPPC2L TRAPPC6B TREX1 TRNT TRPC3 TTN TTR TUBB4A TWNK TXN2 TYMP UBA5 UBQLN2 UCHL1 UMOD VAC14 VARS1 VCP VPS13A VPS13C VPS53 VRK1 WASHC5 WDR45B WT1 XPR1 XRCC1 YARS2 ZFYVE26

Diseases (273) :OMIM:231550 OMIM:615889 OMIM:300100 OMIM:616278 OMIM:617762 OMIM:182410 OMIM:168600 OMIM:614300 OMIM:614487 OMIM:618276 OMIM:300816 OMIM:260600 OMIM:618006 OMIM:176920 OMIM:616586 OMIM:205100 OMIM:607225 OMIM:611307 OMIM:228600 OMIM:613647 OMIM:228000 OMIM:159950 OMIM:615574 OMIM:618011 OMIM:613708 OMIM:619810 OMIM:109150 OMIM:609195 OMIM:614498 OMIM:615924 OMIM:614298 OMIM:183086 OMIM:616457 OMIM:615872 OMIM:616230 OMIM:614809 OMIM:615911 OMIM:616321 OMIM:616271 OMIM:615643 OMIM:601369 OMIM:104200 OMIM:203780 OMIM:301050 OMIM:254090 OMIM:255600 OMIM:617800 OMIM:146500 OMIM:615573 OMIM:617917 OMIM:618476 OMIM:612199 OMIM:615362 OMIM:270800 OMIM:615281 OMIM:617394 OMIM:615033 OMIM:618404 OMIM:615008 OMIM:614152 OMIM:617605 OMIM:618061 OMIM:614388 OMIM:604121 OMIM:614116 OMIM:608799 OMIM:190300 OMIM:223900 OMIM:617270 OMIM:616875 OMIM:617951 OMIM:615681 OMIM:611225 OMIM:618065 OMIM:612319 OMIM:614817 OMIM:300696 OMIM:611228 OMIM:611588 OMIM:606159 OMIM:614409 OMIM:619333 OMIM:166350 OMIM:252940 OMIM:614018 OMIM:616281 OMIM:608641 OMIM:137200 OMIM:605285 OMIM:619026 OMIM:619027 OMIM:605280 OMIM:615330 OMIM:614455 OMIM:617404 OMIM:618451 OMIM:618088 OMIM:617613 OMIM:616370 OMIM:619566 OMIM:616187 OMIM:615344 OMIM:600101 OMIM:614959 OMIM:616398 OMIM:611726 OMIM:614255 OMIM:614213 OMIM:611302 OMIM:604187 OMIM:609541 OMIM:617284 OMIM:615191 OMIM:616827 OMIM:616516 OMIM:613205 OMIM:169500 OMIM:616540 OMIM:615838 OMIM:155950 OMIM:617271 OMIM:615486 OMIM:300260 OMIM:617282 OMIM:613668 OMIM:617086 OMIM:616486 OMIM:615084 OMIM:618329 OMIM:252150 OMIM:252160 OMIM:618400 OMIM:256810 OMIM:604391 OMIM:617664 OMIM:112250 OMIM:613559 OMIM:614369 OMIM:614131 OMIM:618317 OMIM:616491 OMIM:615419 OMIM:139090 OMIM:618244 OMIM:618233 OMIM:618245 OMIM:618226 OMIM:618224 OMIM:616924 OMIM:600363 OMIM:617560 OMIM:614153 OMIM:618348 OMIM:616730 OMIM:618177 OMIM:618178 OMIM:618426 OMIM:618176 OMIM:616892 OMIM:210000 OMIM:125250 OMIM:613435 OMIM:164300 OMIM:608027 OMIM:615919 OMIM:213600 OMIM:615483 OMIM:618511 OMIM:614877 OMIM:617146 OMIM:615217 OMIM:613095 OMIM:610217 OMIM:610725 OMIM:617954 OMIM:215470 OMIM:251950 OMIM:603041 OMIM:613662 OMIM:157640 OMIM:610131 OMIM:607694 OMIM:613157 OMIM:616640 OMIM:612437 OMIM:612067 OMIM:617481 OMIM:616263 OMIM:617931 OMIM:616420 OMIM:615760 OMIM:611523 OMIM:615895 OMIM:617916 OMIM:613115 OMIM:616479 OMIM:610329 OMIM:612075 OMIM:604805 OMIM:615705 OMIM:615284 OMIM:617056 OMIM:606002 OMIM:608099 OMIM:617575 OMIM:605726 OMIM:620068 OMIM:218000 OMIM:609283 OMIM:614482 OMIM:617013 OMIM:617606 OMIM:614707 OMIM:211530 OMIM:613135 OMIM:616291 OMIM:615342 OMIM:253400 OMIM:168601 OMIM:614561 OMIM:122860 OMIM:137940 OMIM:182601 OMIM:604360 OMIM:616818 OMIM:616437 OMIM:617145 OMIM:185070 OMIM:618093 OMIM:615768 OMIM:618484 OMIM:615530 OMIM:220500 OMIM:615338 OMIM:617207 OMIM:616439 OMIM:607136 OMIM:617156 OMIM:615878 OMIM:609560 OMIM:174810 OMIM:602080 OMIM:239000 OMIM:618201 OMIM:617669 OMIM:618331 OMIM:617862 OMIM:192315 OMIM:616410 OMIM:608807 OMIM:105210 OMIM:612438 OMIM:271245 OMIM:609286 OMIM:616811 OMIM:617133 OMIM:300857 OMIM:615491 OMIM:162000 OMIM:617054 OMIM:617802 OMIM:616687 OMIM:200150 OMIM:616840 OMIM:615851 OMIM:607596 OMIM:603563 OMIM:617977 OMIM:256370 OMIM:616413 OMIM:617633 OMIM:613561 OMIM:270700

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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