Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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:
All (HP:0000001)

Parent Node:
Clinical course (HP:0031797)

..Starting node
..Pace of progression (HP:0003679)

Term ID:

3679

Name:

Pace of progression

Synonym:

Definition:

Comments:

Reference:

HP:0003679

Genes and Diseases:

Child Nodes:

........

Progressive (HP:0003676)

........

Slow progression (HP:0003677)

........

Rapidly progressive (HP:0003678)

........

Nonprogressive (HP:0003680)

........

Variable progression rate (HP:0003682)

Sister Nodes:

Mortality/Aging (HP:0040006)

Onset (HP:0003674)

Temporal pattern (HP:0011008)

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:0003679	HP:0003679	Pace of progression	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome		57
HP:0003679	HP:0003679	Pace of progression	0	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure		143
HP:0003679	HP:0003679	Pace of progression	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0003679	HP:0003679	Pace of progression	0	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0003679	HP:0003679	Pace of progression	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract		50
HP:0003679	HP:0003679	Pace of progression	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0003679	HP:0003679	Pace of progression	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0003679	HP:0003679	Pace of progression	0	ACTN4 CL E G H	81	166	OMIM:603278	Focal segmental glomerulosclerosis 1		27
HP:0003679	HP:0003679	Pace of progression	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0003679	HP:0003679	Pace of progression	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset		4
HP:0003679	HP:0003679	Pace of progression	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0003679	HP:0003679	Pace of progression	0	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5
HP:0003679	HP:0003679	Pace of progression	0	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive		86
HP:0003679	HP:0003679	Pace of progression	0	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28		86
HP:0003679	HP:0003679	Pace of progression	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy		1
HP:0003679	HP:0003679	Pace of progression	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0003679	HP:0003679	Pace of progression	0	AIFM1 CL E G H	9131	8768	OMIM:300614	Deafness, X-linked 5		60
HP:0003679	HP:0003679	Pace of progression	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3		4
HP:0003679	HP:0003679	Pace of progression	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17		1
HP:0003679	HP:0003679	Pace of progression	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic		54
HP:0003679	HP:0003679	Pace of progression	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0003679	HP:0003679	Pace of progression	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0003679	HP:0003679	Pace of progression	0	ALG14 CL E G H	199857	28287	OMIM:616227	Myasthenic syndrome, congenital, 15		12
HP:0003679	HP:0003679	Pace of progression	0	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14		46
HP:0003679	HP:0003679	Pace of progression	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0003679	HP:0003679	Pace of progression	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile		114
HP:0003679	HP:0003679	Pace of progression	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending		114
HP:0003679	HP:0003679	Pace of progression	0	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L		304
HP:0003679	HP:0003679	Pace of progression	0	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome		49
HP:0003679	HP:0003679	Pace of progression	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive		49
HP:0003679	HP:0003679	Pace of progression	0	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive		165
HP:0003679	HP:0003679	Pace of progression	0	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3		39
HP:0003679	HP:0003679	Pace of progression	0	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1		125
HP:0003679	HP:0003679	Pace of progression	0	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8		3
HP:0003679	HP:0003679	Pace of progression	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0003679	HP:0003679	Pace of progression	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy		78
HP:0003679	HP:0003679	Pace of progression	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency		17
HP:0003679	HP:0003679	Pace of progression	0	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0003679	HP:0003679	Pace of progression	0	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25		1
HP:0003679	HP:0003679	Pace of progression	0	ATL1 CL E G H	51062	11231	OMIM:613708	Neuropathy, hereditary sensory, type ID		71
HP:0003679	HP:0003679	Pace of progression	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0003679	HP:0003679	Pace of progression	0	ATP11A CL E G H	23250	13552	OMIM:619810	DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84
HP:0003679	HP:0003679	Pace of progression	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0003679	HP:0003679	Pace of progression	0	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD		4
HP:0003679	HP:0003679	Pace of progression	0	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1		19
HP:0003679	HP:0003679	Pace of progression	0	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked		36
HP:0003679	HP:0003679	Pace of progression	0	ATP7A CL E G H	538	869	OMIM:300489	Spinal muscular atrophy, distal, X-linked 3		192
HP:0003679	HP:0003679	Pace of progression	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset		11
HP:0003679	HP:0003679	Pace of progression	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0003679	HP:0003679	Pace of progression	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset		1
HP:0003679	HP:0003679	Pace of progression	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive		25
HP:0003679	HP:0003679	Pace of progression	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6		204
HP:0003679	HP:0003679	Pace of progression	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal		20
HP:0003679	HP:0003679	Pace of progression	0	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy		105
HP:0003679	HP:0003679	Pace of progression	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0003679	HP:0003679	Pace of progression	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4		114
HP:0003679	HP:0003679	Pace of progression	0	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive		114
HP:0003679	HP:0003679	Pace of progression	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1		56
HP:0003679	HP:0003679	Pace of progression	0	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6		449
HP:0003679	HP:0003679	Pace of progression	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0003679	HP:0003679	Pace of progression	0	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50		10
HP:0003679	HP:0003679	Pace of progression	0	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40		54
HP:0003679	HP:0003679	Pace of progression	0	CCNO CL E G H	10309	18576	OMIM:615872	Ciliary dyskinesia, primary, 29		23
HP:0003679	HP:0003679	Pace of progression	0	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8		1
HP:0003679	HP:0003679	Pace of progression	0	CFHR5 CL E G H	81494	24668	OMIM:614809	Cfhr5 deficiency		47
HP:0003679	HP:0003679	Pace of progression	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0003679	HP:0003679	Pace of progression	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2		11
HP:0003679	HP:0003679	Pace of progression	0	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0003679	HP:0003679	Pace of progression	0	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type		11
HP:0003679	HP:0003679	Pace of progression	0	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type		53
HP:0003679	HP:0003679	Pace of progression	0	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel		88
HP:0003679	HP:0003679	Pace of progression	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		139
HP:0003679	HP:0003679	Pace of progression	0	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis		112
HP:0003679	HP:0003679	Pace of progression	0	CLDN14 CL E G H	23562	2035	OMIM:614035	Deafness, autosomal recessive 29		57
HP:0003679	HP:0003679	Pace of progression	0	CLN8 CL E G H	2055	2079	OMIM:610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant		111
HP:0003679	HP:0003679	Pace of progression	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0003679	HP:0003679	Pace of progression	0	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
HP:0003679	HP:0003679	Pace of progression	0	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6		16
HP:0003679	HP:0003679	Pace of progression	0	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9		46
HP:0003679	HP:0003679	Pace of progression	0	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant		161
HP:0003679	HP:0003679	Pace of progression	0	COL4A3 CL E G H	1285	2204	OMIM:203780	Alport syndrome, autosomal recessive		161
HP:0003679	HP:0003679	Pace of progression	0	COL4A3 CL E G H	1285	2204	OMIM:141200	Hematuria, benign familial		161
HP:0003679	HP:0003679	Pace of progression	0	COL4A4 CL E G H	1286	2206	OMIM:203780	Alport syndrome, autosomal recessive		174
HP:0003679	HP:0003679	Pace of progression	0	COL4A4 CL E G H	1286	2206	OMIM:141200	Hematuria, benign familial		174
HP:0003679	HP:0003679	Pace of progression	0	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked		678
HP:0003679	HP:0003679	Pace of progression	0	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1		442
HP:0003679	HP:0003679	Pace of progression	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0003679	HP:0003679	Pace of progression	0	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1		478
HP:0003679	HP:0003679	Pace of progression	0	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive		478
HP:0003679	HP:0003679	Pace of progression	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0003679	HP:0003679	Pace of progression	0	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1		702
HP:0003679	HP:0003679	Pace of progression	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0003679	HP:0003679	Pace of progression	0	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive
HP:0003679	HP:0003679	Pace of progression	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to		54
HP:0003679	HP:0003679	Pace of progression	0	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6		39
HP:0003679	HP:0003679	Pace of progression	0	COQ8B CL E G H	79934	19041	OMIM:615573	Nephrotic syndrome, type 9		35
HP:0003679	HP:0003679	Pace of progression	0	COX6A1 CL E G H	1337	2277	OMIM:616039	Charcot-Marie-Tooth disease, recessive intermediate D		4
HP:0003679	HP:0003679	Pace of progression	0	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant		1
HP:0003679	HP:0003679	Pace of progression	0	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8
HP:0003679	HP:0003679	Pace of progression	0	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0003679	HP:0003679	Pace of progression	0	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2		46
HP:0003679	HP:0003679	Pace of progression	0	CRYAB CL E G H	1410	2389	OMIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related		46
HP:0003679	HP:0003679	Pace of progression	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0003679	HP:0003679	Pace of progression	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids		149
HP:0003679	HP:0003679	Pace of progression	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts		160
HP:0003679	HP:0003679	Pace of progression	0	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13		20
HP:0003679	HP:0003679	Pace of progression	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17		9
HP:0003679	HP:0003679	Pace of progression	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0003679	HP:0003679	Pace of progression	0	DAB1 CL E G H	1600	2661	OMIM:615945	Spinocerebellar ataxia 37		4
HP:0003679	HP:0003679	Pace of progression	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0003679	HP:0003679	Pace of progression	0	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation		60
HP:0003679	HP:0003679	Pace of progression	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal		8
HP:0003679	HP:0003679	Pace of progression	0	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB		86
HP:0003679	HP:0003679	Pace of progression	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome		86
HP:0003679	HP:0003679	Pace of progression	0	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive		35
HP:0003679	HP:0003679	Pace of progression	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0003679	HP:0003679	Pace of progression	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0003679	HP:0003679	Pace of progression	0	DGKE CL E G H	8526	2852	OMIM:615008	Nephrotic syndrome, type 7		17
HP:0003679	HP:0003679	Pace of progression	0	DIABLO CL E G H	56616	21528	OMIM:614152	Deafness, autosomal dominant 64		11
HP:0003679	HP:0003679	Pace of progression	0	DMXL2 CL E G H	23312	2938	OMIM:617605	DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA71		3
HP:0003679	HP:0003679	Pace of progression	0	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6		41
HP:0003679	HP:0003679	Pace of progression	0	DNAJB11 CL E G H	51726	14889	OMIM:618061	Polycystic kidney disease 6 with or without polycystic liver disease
HP:0003679	HP:0003679	Pace of progression	0	DNAJB2 CL E G H	3300	5228	OMIM:614881	Spinal muscular atrophy, distal, autosomal recessive, 5		30
HP:0003679	HP:0003679	Pace of progression	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E		103
HP:0003679	HP:0003679	Pace of progression	0	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant		155
HP:0003679	HP:0003679	Pace of progression	0	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset		6
HP:0003679	HP:0003679	Pace of progression	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0003679	HP:0003679	Pace of progression	0	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5		94
HP:0003679	HP:0003679	Pace of progression	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0003679	HP:0003679	Pace of progression	0	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant		145
HP:0003679	HP:0003679	Pace of progression	0	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE		145
HP:0003679	HP:0003679	Pace of progression	0	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0003679	HP:0003679	Pace of progression	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE		27
HP:0003679	HP:0003679	Pace of progression	0	DRD3 CL E G H	1814	3024	OMIM:190300	Tremor, hereditary essential, 1		21
HP:0003679	HP:0003679	Pace of progression	0	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O		427
HP:0003679	HP:0003679	Pace of progression	0	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant		427
HP:0003679	HP:0003679	Pace of progression	0	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B		600
HP:0003679	HP:0003679	Pace of progression	0	DYSF CL E G H	8291	3097	OMIM:606768	Myopathy, distal, with anterior tibial onset		600
HP:0003679	HP:0003679	Pace of progression	0	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5		4
HP:0003679	HP:0003679	Pace of progression	0	EEF2 CL E G H	1938	3214	OMIM:609306	Spinocerebellar ataxia 26		4
HP:0003679	HP:0003679	Pace of progression	0	ELOVL5 CL E G H	60481	21308	OMIM:615957	Spinocerebellar ataxia 38		4
HP:0003679	HP:0003679	Pace of progression	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III		133
HP:0003679	HP:0003679	Pace of progression	0	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58		6
HP:0003679	HP:0003679	Pace of progression	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation		5
HP:0003679	HP:0003679	Pace of progression	0	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked		107
HP:0003679	HP:0003679	Pace of progression	0	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora		83
HP:0003679	HP:0003679	Pace of progression	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0003679	HP:0003679	Pace of progression	0	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive		2
HP:0003679	HP:0003679	Pace of progression	0	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive		18
HP:0003679	HP:0003679	Pace of progression	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0003679	HP:0003679	Pace of progression	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive		76
HP:0003679	HP:0003679	Pace of progression	0	FAN1 CL E G H	22909	29170	OMIM:614817	Interstitial nephritis, karyomegalic		15
HP:0003679	HP:0003679	Pace of progression	0	FARS2 CL E G H	10667	21062	OMIM:617046	Spastic paraplegia 77, autosomal recessive		36
HP:0003679	HP:0003679	Pace of progression	0	FAT2 CL E G H	2196	3596	OMIM:617769	Spinocerebellar ataxia 45		2
HP:0003679	HP:0003679	Pace of progression	0	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID		1
HP:0003679	HP:0003679	Pace of progression	0	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset		36
HP:0003679	HP:0003679	Pace of progression	0	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant		47
HP:0003679	HP:0003679	Pace of progression	0	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset		68
HP:0003679	HP:0003679	Pace of progression	0	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe		68
HP:0003679	HP:0003679	Pace of progression	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy		68
HP:0003679	HP:0003679	Pace of progression	0	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J		111
HP:0003679	HP:0003679	Pace of progression	0	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4		184
HP:0003679	HP:0003679	Pace of progression	0	FLNC CL E G H	2318	3756	OMIM:609524	Filaminopathy, autosomal dominant		197
HP:0003679	HP:0003679	Pace of progression	0	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4		197
HP:0003679	HP:0003679	Pace of progression	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0003679	HP:0003679	Pace of progression	0	FN1 CL E G H	2335	3778	OMIM:601894	Glomerulopathy with fibronectin deposits 2		9
HP:0003679	HP:0003679	Pace of progression	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1		1
HP:0003679	HP:0003679	Pace of progression	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3		33
HP:0003679	HP:0003679	Pace of progression	0	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1		109
HP:0003679	HP:0003679	Pace of progression	0	FZD6 CL E G H	8323	4044	OMIM:161050	Nail disorder, nonsyndromic congenital, 1		3
HP:0003679	HP:0003679	Pace of progression	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive		121
HP:0003679	HP:0003679	Pace of progression	0	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D
HP:0003679	HP:0003679	Pace of progression	0	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA
HP:0003679	HP:0003679	Pace of progression	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset
HP:0003679	HP:0003679	Pace of progression	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0003679	HP:0003679	Pace of progression	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0003679	HP:0003679	Pace of progression	0	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A		108
HP:0003679	HP:0003679	Pace of progression	0	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27
HP:0003679	HP:0003679	Pace of progression	0	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0003679	HP:0003679	Pace of progression	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		128
HP:0003679	HP:0003679	Pace of progression	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0003679	HP:0003679	Pace of progression	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset		1
HP:0003679	HP:0003679	Pace of progression	0	GNAS CL E G H	2778	4392	OMIM:166350	Osseous heteroplasia, progressive		101
HP:0003679	HP:0003679	Pace of progression	0	GNB4 CL E G H	59345	20731	OMIM:615185	Charcot-Marie-Tooth disease, dominant intermediate F		12
HP:0003679	HP:0003679	Pace of progression	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0003679	HP:0003679	Pace of progression	0	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6		88
HP:0003679	HP:0003679	Pace of progression	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49		4
HP:0003679	HP:0003679	Pace of progression	0	GRHL2 CL E G H	79977	2799	OMIM:608641	Deafness, autosomal dominant nonsyndromic sensorineural 28		33
HP:0003679	HP:0003679	Pace of progression	0	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44		8
HP:0003679	HP:0003679	Pace of progression	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0003679	HP:0003679	Pace of progression	0	GRN CL E G H	2896	4601	OMIM:614706	Ceroid lipofuscinosis, neuronal, 11		126
HP:0003679	HP:0003679	Pace of progression	0	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0003679	HP:0003679	Pace of progression	0	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A		82
HP:0003679	HP:0003679	Pace of progression	0	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive		12
HP:0003679	HP:0003679	Pace of progression	0	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type		11
HP:0003679	HP:0003679	Pace of progression	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease
HP:0003679	HP:0003679	Pace of progression	0	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G		5
HP:0003679	HP:0003679	Pace of progression	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3		2
HP:0003679	HP:0003679	Pace of progression	0	HPCA CL E G H	3208	5144	OMIM:224500	Dystonia 2, torsion, autosomal recessive		4
HP:0003679	HP:0003679	Pace of progression	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0003679	HP:0003679	Pace of progression	0	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0003679	HP:0003679	Pace of progression	0	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB		47
HP:0003679	HP:0003679	Pace of progression	0	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC		13
HP:0003679	HP:0003679	Pace of progression	0	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant		46
HP:0003679	HP:0003679	Pace of progression	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3		16
HP:0003679	HP:0003679	Pace of progression	0	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive		16
HP:0003679	HP:0003679	Pace of progression	0	IGHMBP2 CL E G H	3508	5542	OMIM:616155	Charcot-Marie-Tooth disease, axonal, type 2S		209
HP:0003679	HP:0003679	Pace of progression	0	ILDR1 CL E G H	286676	28741	OMIM:609646	Deafness, neurosensory, autosomal recessive 42		42
HP:0003679	HP:0003679	Pace of progression	0	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E		135
HP:0003679	HP:0003679	Pace of progression	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability		7
HP:0003679	HP:0003679	Pace of progression	0	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0003679	HP:0003679	Pace of progression	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0003679	HP:0003679	Pace of progression	0	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5		1
HP:0003679	HP:0003679	Pace of progression	0	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4		7
HP:0003679	HP:0003679	Pace of progression	0	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15		177
HP:0003679	HP:0003679	Pace of progression	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0003679	HP:0003679	Pace of progression	0	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6		80
HP:0003679	HP:0003679	Pace of progression	0	KCNC1 CL E G H	3746	6233	OMIM:616187	Epilepsy, progressive myoclonic 7		6
HP:0003679	HP:0003679	Pace of progression	0	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13		17
HP:0003679	HP:0003679	Pace of progression	0	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19		35
HP:0003679	HP:0003679	Pace of progression	0	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4		7
HP:0003679	HP:0003679	Pace of progression	0	KCNQ4 CL E G H	9132	6298	OMIM:600101	Deafness, autosomal dominant nonsyndromic sensorineural 2		76
HP:0003679	HP:0003679	Pace of progression	0	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14		321
HP:0003679	HP:0003679	Pace of progression	0	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic		1
HP:0003679	HP:0003679	Pace of progression	0	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions		106
HP:0003679	HP:0003679	Pace of progression	0	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9		276
HP:0003679	HP:0003679	Pace of progression	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		276
HP:0003679	HP:0003679	Pace of progression	0	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0003679	HP:0003679	Pace of progression	0	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive		276
HP:0003679	HP:0003679	Pace of progression	0	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1		202
HP:0003679	HP:0003679	Pace of progression	0	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive		38
HP:0003679	HP:0003679	Pace of progression	0	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant		93
HP:0003679	HP:0003679	Pace of progression	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0003679	HP:0003679	Pace of progression	0	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset		11
HP:0003679	HP:0003679	Pace of progression	0	KRT12 CL E G H	3859	6414	OMIM:122100	Meesmann corneal dystrophy 1		22
HP:0003679	HP:0003679	Pace of progression	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0003679	HP:0003679	Pace of progression	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0003679	HP:0003679	Pace of progression	0	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5		71
HP:0003679	HP:0003679	Pace of progression	0	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W		10
HP:0003679	HP:0003679	Pace of progression	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0003679	HP:0003679	Pace of progression	0	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive		645
HP:0003679	HP:0003679	Pace of progression	0	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related		645
HP:0003679	HP:0003679	Pace of progression	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0003679	HP:0003679	Pace of progression	0	LMNB2 CL E G H	84823	6638	OMIM:616540	Epilepsy, progressive myoclonic, 9		11
HP:0003679	HP:0003679	Pace of progression	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0003679	HP:0003679	Pace of progression	0	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1		125
HP:0003679	HP:0003679	Pace of progression	0	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant		221
HP:0003679	HP:0003679	Pace of progression	0	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P		102
HP:0003679	HP:0003679	Pace of progression	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0003679	HP:0003679	Pace of progression	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive		4
HP:0003679	HP:0003679	Pace of progression	0	MAP2K1 CL E G H	5604	6840	OMIM:155950	Melorheostosis, isolated		134
HP:0003679	HP:0003679	Pace of progression	0	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion		2
HP:0003679	HP:0003679	Pace of progression	0	MAPKBP1 CL E G H	23005	29536	OMIM:617271	Nephronophthisis 20		6
HP:0003679	HP:0003679	Pace of progression	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset		140
HP:0003679	HP:0003679	Pace of progression	0	MARCHF6 CL E G H	10299	30550	OMIM:613608	Epilepsy, familial adult myoclonic, 3
HP:0003679	HP:0003679	Pace of progression	0	MARS1 CL E G H	4141	6898	OMIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U
HP:0003679	HP:0003679	Pace of progression	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0003679	HP:0003679	Pace of progression	0	MCM2 CL E G H	4171	6944	OMIM:616968	Deafness, autosomal dominant 70		1
HP:0003679	HP:0003679	Pace of progression	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		3
HP:0003679	HP:0003679	Pace of progression	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0003679	HP:0003679	Pace of progression	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0003679	HP:0003679	Pace of progression	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities		6
HP:0003679	HP:0003679	Pace of progression	0	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy		23
HP:0003679	HP:0003679	Pace of progression	0	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2		17
HP:0003679	HP:0003679	Pace of progression	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A		203
HP:0003679	HP:0003679	Pace of progression	0	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive		5
HP:0003679	HP:0003679	Pace of progression	0	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7		120
HP:0003679	HP:0003679	Pace of progression	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0003679	HP:0003679	Pace of progression	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0003679	HP:0003679	Pace of progression	0	MME CL E G H	4311	7154	OMIM:617017	Charcot-Marie-Tooth disease, axonal, type 2T		18
HP:0003679	HP:0003679	Pace of progression	0	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43		18
HP:0003679	HP:0003679	Pace of progression	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A		96
HP:0003679	HP:0003679	Pace of progression	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B		26
HP:0003679	HP:0003679	Pace of progression	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0003679	HP:0003679	Pace of progression	0	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0003679	HP:0003679	Pace of progression	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0003679	HP:0003679	Pace of progression	0	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B		134
HP:0003679	HP:0003679	Pace of progression	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		134
HP:0003679	HP:0003679	Pace of progression	0	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1		532
HP:0003679	HP:0003679	Pace of progression	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32		1
HP:0003679	HP:0003679	Pace of progression	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma		85
HP:0003679	HP:0003679	Pace of progression	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0003679	HP:0003679	Pace of progression	0	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive		19
HP:0003679	HP:0003679	Pace of progression	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0003679	HP:0003679	Pace of progression	0	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss		227
HP:0003679	HP:0003679	Pace of progression	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1		1269
HP:0003679	HP:0003679	Pace of progression	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0003679	HP:0003679	Pace of progression	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0003679	HP:0003679	Pace of progression	0	MYH7 CL E G H	4625	7577	OMIM:181430	Scapuloperoneal myopathy, myh7-related		1269
HP:0003679	HP:0003679	Pace of progression	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0003679	HP:0003679	Pace of progression	0	MYO1E CL E G H	4643	7599	OMIM:614131	Focal segmental glomerulosclerosis 6		3
HP:0003679	HP:0003679	Pace of progression	0	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive
HP:0003679	HP:0003679	Pace of progression	0	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body		75
HP:0003679	HP:0003679	Pace of progression	0	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY		75
HP:0003679	HP:0003679	Pace of progression	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0003679	HP:0003679	Pace of progression	0	NAGLU CL E G H	4669	7632	OMIM:616491	Charcot-Marie-Tooth disease, axonal, type 2V		72
HP:0003679	HP:0003679	Pace of progression	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1		48
HP:0003679	HP:0003679	Pace of progression	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		9
HP:0003679	HP:0003679	Pace of progression	0	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome		127
HP:0003679	HP:0003679	Pace of progression	0	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23		7
HP:0003679	HP:0003679	Pace of progression	0	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28		3
HP:0003679	HP:0003679	Pace of progression	0	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10		26
HP:0003679	HP:0003679	Pace of progression	0	NDUFB9 CL E G H	4715	7704	OMIM:618245	Mitochondrial complex I deficiency, nuclear type 24		16
HP:0003679	HP:0003679	Pace of progression	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5		81
HP:0003679	HP:0003679	Pace of progression	0	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3		38
HP:0003679	HP:0003679	Pace of progression	0	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC		24
HP:0003679	HP:0003679	Pace of progression	0	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G		118
HP:0003679	HP:0003679	Pace of progression	0	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora		77
HP:0003679	HP:0003679	Pace of progression	0	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant		117
HP:0003679	HP:0003679	Pace of progression	0	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy		2
HP:0003679	HP:0003679	Pace of progression	0	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation		217
HP:0003679	HP:0003679	Pace of progression	0	NOL3 CL E G H	8996	7869	OMIM:614937	Myoclonus, familial cortical		1
HP:0003679	HP:0003679	Pace of progression	0	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36		9
HP:0003679	HP:0003679	Pace of progression	0	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1		241
HP:0003679	HP:0003679	Pace of progression	0	NPHS2 CL E G H	7827	13394	OMIM:600995	Nephrotic syndrome, type 2		69
HP:0003679	HP:0003679	Pace of progression	0	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0003679	HP:0003679	Pace of progression	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset		27
HP:0003679	HP:0003679	Pace of progression	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7		5
HP:0003679	HP:0003679	Pace of progression	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11		5
HP:0003679	HP:0003679	Pace of progression	0	NUP133 CL E G H	55746	18016	OMIM:618177	NEPHROTIC SYNDROME, TYPE 18; NPHS18		1
HP:0003679	HP:0003679	Pace of progression	0	NUP160 CL E G H	23279	18017	OMIM:618178	Nephrotic syndrome, type 19
HP:0003679	HP:0003679	Pace of progression	0	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9		1
HP:0003679	HP:0003679	Pace of progression	0	NUP85 CL E G H	79902	8734	OMIM:618176	Nephrotic syndrome, type 17
HP:0003679	HP:0003679	Pace of progression	0	NUP93 CL E G H	9688	28958	OMIM:616892	Nephrotic syndrome, type 12		5
HP:0003679	HP:0003679	Pace of progression	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome		214
HP:0003679	HP:0003679	Pace of progression	0	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy		214
HP:0003679	HP:0003679	Pace of progression	0	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12		62
HP:0003679	HP:0003679	Pace of progression	0	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2		19
HP:0003679	HP:0003679	Pace of progression	0	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy		10
HP:0003679	HP:0003679	Pace of progression	0	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration		55
HP:0003679	HP:0003679	Pace of progression	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0003679	HP:0003679	Pace of progression	0	PARK7 CL E G H	11315	16369	OMIM:606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7		23
HP:0003679	HP:0003679	Pace of progression	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3		6
HP:0003679	HP:0003679	Pace of progression	0	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2		1
HP:0003679	HP:0003679	Pace of progression	0	PDE10A CL E G H	10846	8772	OMIM:616922	Striatal degeneration, autosomal dominant 2		5
HP:0003679	HP:0003679	Pace of progression	0	PDE8B CL E G H	8622	8794	OMIM:609161	Striatal degeneration, autosomal dominant		75
HP:0003679	HP:0003679	Pace of progression	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1		9
HP:0003679	HP:0003679	Pace of progression	0	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5		9
HP:0003679	HP:0003679	Pace of progression	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1		28
HP:0003679	HP:0003679	Pace of progression	0	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6		4
HP:0003679	HP:0003679	Pace of progression	0	PDXK CL E G H	8566	8819	OMIM:618511	Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy
HP:0003679	HP:0003679	Pace of progression	0	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23		52
HP:0003679	HP:0003679	Pace of progression	0	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)		75
HP:0003679	HP:0003679	Pace of progression	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0003679	HP:0003679	Pace of progression	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0003679	HP:0003679	Pace of progression	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B		82
HP:0003679	HP:0003679	Pace of progression	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch		77
HP:0003679	HP:0003679	Pace of progression	0	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3		11
HP:0003679	HP:0003679	Pace of progression	0	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset		55
HP:0003679	HP:0003679	Pace of progression	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2		106
HP:0003679	HP:0003679	Pace of progression	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B		133
HP:0003679	HP:0003679	Pace of progression	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0003679	HP:0003679	Pace of progression	0	PLCE1 CL E G H	51196	17175	OMIM:610725	Nephrotic syndrome, type 3		118
HP:0003679	HP:0003679	Pace of progression	0	PLD3 CL E G H	23646	17158	OMIM:617770	Spinocerebellar ataxia 46		2
HP:0003679	HP:0003679	Pace of progression	0	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q		759
HP:0003679	HP:0003679	Pace of progression	0	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4		186
HP:0003679	HP:0003679	Pace of progression	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0003679	HP:0003679	Pace of progression	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0003679	HP:0003679	Pace of progression	0	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A		79
HP:0003679	HP:0003679	Pace of progression	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		79
HP:0003679	HP:0003679	Pace of progression	0	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2		7
HP:0003679	HP:0003679	Pace of progression	0	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6
HP:0003679	HP:0003679	Pace of progression	0	PNKP CL E G H	11284	9154	OMIM:616267	Ataxia-Oculomotor apraxia 4		244
HP:0003679	HP:0003679	Pace of progression	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy		65
HP:0003679	HP:0003679	Pace of progression	0	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome		103
HP:0003679	HP:0003679	Pace of progression	0	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis		3
HP:0003679	HP:0003679	Pace of progression	0	POGLUT1 CL E G H	56983	22954	OMIM:617232	Muscular dystrophy, limb-girdle, type 2Z		6
HP:0003679	HP:0003679	Pace of progression	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		464
HP:0003679	HP:0003679	Pace of progression	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)		464
HP:0003679	HP:0003679	Pace of progression	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0003679	HP:0003679	Pace of progression	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0003679	HP:0003679	Pace of progression	0	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4		45
HP:0003679	HP:0003679	Pace of progression	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		138
HP:0003679	HP:0003679	Pace of progression	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		67
HP:0003679	HP:0003679	Pace of progression	0	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3		180
HP:0003679	HP:0003679	Pace of progression	0	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1		213
HP:0003679	HP:0003679	Pace of progression	0	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10		1
HP:0003679	HP:0003679	Pace of progression	0	PRICKLE1 CL E G H	144165	17019	OMIM:612437	Epilepsy, progressive myoclonic 1B		133
HP:0003679	HP:0003679	Pace of progression	0	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14		83
HP:0003679	HP:0003679	Pace of progression	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16		37
HP:0003679	HP:0003679	Pace of progression	0	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease		69
HP:0003679	HP:0003679	Pace of progression	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease		69
HP:0003679	HP:0003679	Pace of progression	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies		8
HP:0003679	HP:0003679	Pace of progression	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0003679	HP:0003679	Pace of progression	0	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3		241
HP:0003679	HP:0003679	Pace of progression	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset		6
HP:0003679	HP:0003679	Pace of progression	0	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47		1
HP:0003679	HP:0003679	Pace of progression	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10		11
HP:0003679	HP:0003679	Pace of progression	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0003679	HP:0003679	Pace of progression	0	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
HP:0003679	HP:0003679	Pace of progression	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0003679	HP:0003679	Pace of progression	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0003679	HP:0003679	Pace of progression	0	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive		3
HP:0003679	HP:0003679	Pace of progression	0	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7
HP:0003679	HP:0003679	Pace of progression	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		54
HP:0003679	HP:0003679	Pace of progression	0	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB		54
HP:0003679	HP:0003679	Pace of progression	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0003679	HP:0003679	Pace of progression	0	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2		3
HP:0003679	HP:0003679	Pace of progression	0	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3		60
HP:0003679	HP:0003679	Pace of progression	0	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly		37
HP:0003679	HP:0003679	Pace of progression	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)		125
HP:0003679	HP:0003679	Pace of progression	0	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant		25
HP:0003679	HP:0003679	Pace of progression	0	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15		9
HP:0003679	HP:0003679	Pace of progression	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0003679	HP:0003679	Pace of progression	0	SAMD12 CL E G H	401474	31750	OMIM:601068	Epilepsy, familial adult myoclonic, 1		2
HP:0003679	HP:0003679	Pace of progression	0	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3		16
HP:0003679	HP:0003679	Pace of progression	0	SCARB2 CL E G H	950	1665	OMIM:254900	Epilepsy, progressive myoclonic, 4, with or without renal failure		77
HP:0003679	HP:0003679	Pace of progression	0	SCN8A CL E G H	6334	10596	OMIM:618364	MYOCLONUS, FAMILIAL, 2; MYOCL2		357
HP:0003679	HP:0003679	Pace of progression	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		318
HP:0003679	HP:0003679	Pace of progression	0	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5		2
HP:0003679	HP:0003679	Pace of progression	0	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile		162
HP:0003679	HP:0003679	Pace of progression	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0003679	HP:0003679	Pace of progression	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D		132
HP:0003679	HP:0003679	Pace of progression	0	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C		83
HP:0003679	HP:0003679	Pace of progression	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0003679	HP:0003679	Pace of progression	0	SIGMAR1 CL E G H	10280	8157	OMIM:614373	Amyotrophic lateral sclerosis 16, juvenile		6
HP:0003679	HP:0003679	Pace of progression	0	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2		6
HP:0003679	HP:0003679	Pace of progression	0	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0003679	HP:0003679	Pace of progression	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0003679	HP:0003679	Pace of progression	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1		70
HP:0003679	HP:0003679	Pace of progression	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0003679	HP:0003679	Pace of progression	0	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2		68
HP:0003679	HP:0003679	Pace of progression	0	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration		48
HP:0003679	HP:0003679	Pace of progression	0	SLC34A2 CL E G H	10568	11020	OMIM:265100	Pulmonary alveolar microlithiasis		7
HP:0003679	HP:0003679	Pace of progression	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0003679	HP:0003679	Pace of progression	0	SLC44A4 CL E G H	80736	13941	OMIM:617606	Deafness, autosomal dominant 72		1
HP:0003679	HP:0003679	Pace of progression	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2		47
HP:0003679	HP:0003679	Pace of progression	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1		51
HP:0003679	HP:0003679	Pace of progression	0	SLC5A7 CL E G H	60482	14025	OMIM:158580	Neuronopathy, distal hereditary motor, type VIIA		9
HP:0003679	HP:0003679	Pace of progression	0	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1		13
HP:0003679	HP:0003679	Pace of progression	0	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome		2
HP:0003679	HP:0003679	Pace of progression	0	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2		132
HP:0003679	HP:0003679	Pace of progression	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0003679	HP:0003679	Pace of progression	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0003679	HP:0003679	Pace of progression	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0003679	HP:0003679	Pace of progression	0	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant		65
HP:0003679	HP:0003679	Pace of progression	0	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4		65
HP:0003679	HP:0003679	Pace of progression	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset		35
HP:0003679	HP:0003679	Pace of progression	0	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts		6
HP:0003679	HP:0003679	Pace of progression	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant		26
HP:0003679	HP:0003679	Pace of progression	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome		7
HP:0003679	HP:0003679	Pace of progression	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant		208
HP:0003679	HP:0003679	Pace of progression	0	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile		287
HP:0003679	HP:0003679	Pace of progression	0	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X		287
HP:0003679	HP:0003679	Pace of progression	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive		287
HP:0003679	HP:0003679	Pace of progression	0	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome		28
HP:0003679	HP:0003679	Pace of progression	0	SPRY2 CL E G H	10253	11270	OMIM:616818	Iga nephropathy, susceptibility to, 3		1
HP:0003679	HP:0003679	Pace of progression	0	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5		126
HP:0003679	HP:0003679	Pace of progression	0	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14		126
HP:0003679	HP:0003679	Pace of progression	0	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3		62
HP:0003679	HP:0003679	Pace of progression	0	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset		62
HP:0003679	HP:0003679	Pace of progression	0	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2
HP:0003679	HP:0003679	Pace of progression	0	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1		31
HP:0003679	HP:0003679	Pace of progression	0	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome		31
HP:0003679	HP:0003679	Pace of progression	0	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0003679	HP:0003679	Pace of progression	0	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16		14
HP:0003679	HP:0003679	Pace of progression	0	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K		73
HP:0003679	HP:0003679	Pace of progression	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type		1129
HP:0003679	HP:0003679	Pace of progression	0	SYNE1 CL E G H	23345	17089	OMIM:610743	Spinocerebellar ataxia, autosomal recessive 8		1129
HP:0003679	HP:0003679	Pace of progression	0	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset		9
HP:0003679	HP:0003679	Pace of progression	0	SYT14 CL E G H	255928	23143	OMIM:614229	Spinocerebellar ataxia, autosomal recessive 11		4
HP:0003679	HP:0003679	Pace of progression	0	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia		65
HP:0003679	HP:0003679	Pace of progression	0	TBC1D24 CL E G H	57465	29203	OMIM:616044	Deafness, autosomal dominant 65		271
HP:0003679	HP:0003679	Pace of progression	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0003679	HP:0003679	Pace of progression	0	TBC1D24 CL E G H	57465	29203	OMIM:615338	Epileptic encephalopathy, early infantile, 16		271
HP:0003679	HP:0003679	Pace of progression	0	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO		52
HP:0003679	HP:0003679	Pace of progression	0	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4		20
HP:0003679	HP:0003679	Pace of progression	0	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset		7
HP:0003679	HP:0003679	Pace of progression	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17		7
HP:0003679	HP:0003679	Pace of progression	0	TEAD1 CL E G H	7003	11714	OMIM:108985	Sveinsson chorioretinal atrophy		1
HP:0003679	HP:0003679	Pace of progression	0	TENM4 CL E G H	26011	29945	OMIM:616736	Tremor, hereditary essential, 5		5
HP:0003679	HP:0003679	Pace of progression	0	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)		1
HP:0003679	HP:0003679	Pace of progression	0	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type		18
HP:0003679	HP:0003679	Pace of progression	0	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35		58
HP:0003679	HP:0003679	Pace of progression	0	TIA1 CL E G H	7072	11802	OMIM:604454	Welander distal myopathy		5
HP:0003679	HP:0003679	Pace of progression	0	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4		149
HP:0003679	HP:0003679	Pace of progression	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0003679	HP:0003679	Pace of progression	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21		9
HP:0003679	HP:0003679	Pace of progression	0	TMEM43 CL E G H	79188	28472	OMIM:614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant		171
HP:0003679	HP:0003679	Pace of progression	0	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis		72
HP:0003679	HP:0003679	Pace of progression	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset		72
HP:0003679	HP:0003679	Pace of progression	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0003679	HP:0003679	Pace of progression	0	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0003679	HP:0003679	Pace of progression	0	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7		203
HP:0003679	HP:0003679	Pace of progression	0	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68
HP:0003679	HP:0003679	Pace of progression	0	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity		2
HP:0003679	HP:0003679	Pace of progression	0	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0003679	HP:0003679	Pace of progression	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0003679	HP:0003679	Pace of progression	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy		56
HP:0003679	HP:0003679	Pace of progression	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H		108
HP:0003679	HP:0003679	Pace of progression	0	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset
HP:0003679	HP:0003679	Pace of progression	0	TRPC3 CL E G H	7222	12335	OMIM:616410	Spinocerebellar ataxia 41		1
HP:0003679	HP:0003679	Pace of progression	0	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive		214
HP:0003679	HP:0003679	Pace of progression	0	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10		7128
HP:0003679	HP:0003679	Pace of progression	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0003679	HP:0003679	Pace of progression	0	TTN CL E G H	7273	12403	OMIM:600334	Tibial muscular dystrophy, tardive		7128
HP:0003679	HP:0003679	Pace of progression	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related		107
HP:0003679	HP:0003679	Pace of progression	0	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6		66
HP:0003679	HP:0003679	Pace of progression	0	TUBB6 CL E G H	84617	20776	OMIM:617732	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
HP:0003679	HP:0003679	Pace of progression	0	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)		113
HP:0003679	HP:0003679	Pace of progression	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3		113
HP:0003679	HP:0003679	Pace of progression	0	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1
HP:0003679	HP:0003679	Pace of progression	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		138
HP:0003679	HP:0003679	Pace of progression	0	UBA5 CL E G H	79876	23230	OMIM:617133	Spinocerebellar ataxia, autosomal recessive 24		13
HP:0003679	HP:0003679	Pace of progression	0	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia		20
HP:0003679	HP:0003679	Pace of progression	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0003679	HP:0003679	Pace of progression	0	UMOD CL E G H	7369	12559	OMIM:162000	Hyperuricemic nephropathy, familial juvenile, 1		66
HP:0003679	HP:0003679	Pace of progression	0	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset		6
HP:0003679	HP:0003679	Pace of progression	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0003679	HP:0003679	Pace of progression	0	VCP CL E G H	7415	12666	OMIM:616687	Charcot-Marie-Tooth disease, axonal, type 2Y		63
HP:0003679	HP:0003679	Pace of progression	0	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1		111
HP:0003679	HP:0003679	Pace of progression	0	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy		10
HP:0003679	HP:0003679	Pace of progression	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS		130
HP:0003679	HP:0003679	Pace of progression	0	VPS13C CL E G H	54832	23594	OMIM:616840	Parkinson disease 23, autosomal recessive early-onset		8
HP:0003679	HP:0003679	Pace of progression	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0003679	HP:0003679	Pace of progression	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0003679	HP:0003679	Pace of progression	0	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22		1
HP:0003679	HP:0003679	Pace of progression	0	WARS1 CL E G H	7453	12729	OMIM:617721	Neuronopathy, distal hereditary motor, type IX
HP:0003679	HP:0003679	Pace of progression	0	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant		83
HP:0003679	HP:0003679	Pace of progression	0	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures		1
HP:0003679	HP:0003679	Pace of progression	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		199
HP:0003679	HP:0003679	Pace of progression	0	WT1 CL E G H	7490	12796	OMIM:256370	Nephrotic syndrome, type 4		177
HP:0003679	HP:0003679	Pace of progression	0	XPR1 CL E G H	9213	12827	OMIM:616413	Basal ganglia calcification, idiopathic, 6		4
HP:0003679	HP:0003679	Pace of progression	0	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26		4
HP:0003679	HP:0003679	Pace of progression	0	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2		45
HP:0003679	HP:0003679	Pace of progression	0	YEATS2 CL E G H	55689	25489	OMIM:615127	Epilepsy, familial adult myoclonic, 4		1
HP:0003679	HP:0003679	Pace of progression	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive		189
HP:0003679	HP:0003682	Variable progression rate	1	CL E G H
HP:0003679	HP:0003676	Progressive	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.	57
HP:0003679	HP:0003676	Progressive	1	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure	.	143
HP:0003679	HP:0003676	Progressive	1	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.	135
HP:0003679	HP:0003676	Progressive	1	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0003679	HP:0003677	Slowly progressive	1	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	.	50
HP:0003679	HP:0003676	Progressive	1	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0003679	HP:0003677	Slowly progressive	1	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal	.	96
HP:0003679	HP:0003677	Slowly progressive	1	ACTN4 CL E G H	81	166	OMIM:603278	Focal segmental glomerulosclerosis 1	.	27
HP:0003679	HP:0003676	Progressive	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome	.	22
HP:0003679	HP:0003676	Progressive	1	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.	4
HP:0003679	HP:0003676	Progressive	1	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.	26
HP:0003679	HP:0003677	Slowly progressive	1	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5	.
HP:0003679	HP:0003676	Progressive	1	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive	.	86
HP:0003679	HP:0003677	Slowly progressive	1	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28	.	86
HP:0003679	HP:0003676	Progressive	1	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy	.	1
HP:0003679	HP:0003676	Progressive	1	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6	.	60
HP:0003679	HP:0003677	Slowly progressive	1	AIFM1 CL E G H	9131	8768	OMIM:300614	Deafness, X-linked 5	.	60
HP:0003679	HP:0003676	Progressive	1	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.	4
HP:0003679	HP:0003676	Progressive	1	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.	1
HP:0003679	HP:0003676	Progressive	1	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0003679	HP:0003677	Slowly progressive	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.	89
HP:0003679	HP:0003676	Progressive	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	.	89
HP:0003679	HP:0003677	Slowly progressive	1	ALG14 CL E G H	199857	28287	OMIM:616227	Myasthenic syndrome, congenital, 15	.	12
HP:0003679	HP:0003677	Slowly progressive	1	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14	.	46
HP:0003679	HP:0003676	Progressive	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.	114
HP:0003679	HP:0003677	Slowly progressive	1	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile	.	114
HP:0003679	HP:0003676	Progressive	1	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.	114
HP:0003679	HP:0003677	Slowly progressive	1	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.	114
HP:0003679	HP:0003676	Progressive	1	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L	.	304
HP:0003679	HP:0003676	Progressive	1	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome	.	49
HP:0003679	HP:0003677	Slowly progressive	1	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.	49
HP:0003679	HP:0003676	Progressive	1	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive	.	165
HP:0003679	HP:0003678	Rapidly progressive	1	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.	39
HP:0003679	HP:0003677	Slowly progressive	1	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1	.	125
HP:0003679	HP:0003678	Rapidly progressive	1	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8	.	3
HP:0003679	HP:0003676	Progressive	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.	78
HP:0003679	HP:0003676	Progressive	1	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.	78
HP:0003679	HP:0003676	Progressive	1	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.	17
HP:0003679	HP:0003676	Progressive	1	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0003679	HP:0003680	Nonprogressive	1	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25	.	1
HP:0003679	HP:0003676	Progressive	1	ATL1 CL E G H	51062	11231	OMIM:613708	Neuropathy, hereditary sensory, type ID	.	71
HP:0003679	HP:0003680	Nonprogressive	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0003679	HP:0003676	Progressive	1	ATP11A CL E G H	23250	13552	OMIM:619810	DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84
HP:0003679	HP:0003678	Rapidly progressive	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome	.	100
HP:0003679	HP:0003677	Slowly progressive	1	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD	.	4
HP:0003679	HP:0003680	Nonprogressive	1	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1	.	19
HP:0003679	HP:0003677	Slowly progressive	1	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked	.	36
HP:0003679	HP:0003677	Slowly progressive	1	ATP7A CL E G H	538	869	OMIM:300489	Spinal muscular atrophy, distal, X-linked 3	.	192
HP:0003679	HP:0003676	Progressive	1	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.	11
HP:0003679	HP:0003676	Progressive	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0003679	HP:0003676	Progressive	1	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0003679	HP:0003676	Progressive	1	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.	25
HP:0003679	HP:0003677	Slowly progressive	1	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.	25
HP:0003679	HP:0003678	Rapidly progressive	1	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.	204
HP:0003679	HP:0003676	Progressive	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.	20
HP:0003679	HP:0003676	Progressive	1	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy	.	105
HP:0003679	HP:0003677	Slowly progressive	1	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17	.	105
HP:0003679	HP:0003676	Progressive	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.	114
HP:0003679	HP:0003677	Slowly progressive	1	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive	.	114
HP:0003679	HP:0003678	Rapidly progressive	1	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.	56
HP:0003679	HP:0003676	Progressive	1	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6	.	449
HP:0003679	HP:0003677	Slowly progressive	1	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42	.	32
HP:0003679	HP:0003676	Progressive	1	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50	.	10
HP:0003679	HP:0003677	Slowly progressive	1	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40	.	54
HP:0003679	HP:0003676	Progressive	1	CCNO CL E G H	10309	18576	OMIM:615872	Ciliary dyskinesia, primary, 29	.	23
HP:0003679	HP:0003676	Progressive	1	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8	.	1
HP:0003679	HP:0003676	Progressive	1	CFHR5 CL E G H	81494	24668	OMIM:614809	Cfhr5 deficiency	.	47
HP:0003679	HP:0003677	Slowly progressive	1	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7	.	35
HP:0003679	HP:0003676	Progressive	1	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.	11
HP:0003679	HP:0003677	Slowly progressive	1	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant	.	11
HP:0003679	HP:0003677	Slowly progressive	1	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type	.	11
HP:0003679	HP:0003677	Slowly progressive	1	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type	.	53
HP:0003679	HP:0003676	Progressive	1	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel	.	88
HP:0003679	HP:0003680	Nonprogressive	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	139
HP:0003679	HP:0003677	Slowly progressive	1	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis	.	112
HP:0003679	HP:0003680	Nonprogressive	1	CLDN14 CL E G H	23562	2035	OMIM:614035	Deafness, autosomal recessive 29	.	57
HP:0003679	HP:0003677	Slowly progressive	1	CLN8 CL E G H	2055	2079	OMIM:610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	.	111
HP:0003679	HP:0003676	Progressive	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	.	38
HP:0003679	HP:0003677	Slowly progressive	1	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	.
HP:0003679	HP:0003676	Progressive	1	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6	.	16
HP:0003679	HP:0003676	Progressive	1	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9	.	46
HP:0003679	HP:0003676	Progressive	1	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant	.	161
HP:0003679	HP:0003676	Progressive	1	COL4A3 CL E G H	1285	2204	OMIM:203780	Alport syndrome, autosomal recessive	.	161
HP:0003679	HP:0003680	Nonprogressive	1	COL4A3 CL E G H	1285	2204	OMIM:141200	Hematuria, benign familial	.	161
HP:0003679	HP:0003676	Progressive	1	COL4A4 CL E G H	1286	2206	OMIM:203780	Alport syndrome, autosomal recessive	.	174
HP:0003679	HP:0003680	Nonprogressive	1	COL4A4 CL E G H	1286	2206	OMIM:141200	Hematuria, benign familial	.	174
HP:0003679	HP:0003676	Progressive	1	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked	.	678
HP:0003679	HP:0003677	Slowly progressive	1	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.	442
HP:0003679	HP:0003676	Progressive	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0003679	HP:0003677	Slowly progressive	1	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.	478
HP:0003679	HP:0003676	Progressive	1	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive	.	478
HP:0003679	HP:0003676	Progressive	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0003679	HP:0003677	Slowly progressive	1	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.	702
HP:0003679	HP:0003676	Progressive	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0003679	HP:0003676	Progressive	1	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive	.
HP:0003679	HP:0003676	Progressive	1	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0003679	HP:0003678	Rapidly progressive	1	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6	.	39
HP:0003679	HP:0003676	Progressive	1	COQ8B CL E G H	79934	19041	OMIM:615573	Nephrotic syndrome, type 9	.	35
HP:0003679	HP:0003677	Slowly progressive	1	COX6A1 CL E G H	1337	2277	OMIM:616039	Charcot-Marie-Tooth disease, recessive intermediate D	.	4
HP:0003679	HP:0003677	Slowly progressive	1	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant	.	1
HP:0003679	HP:0003676	Progressive	1	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8	.
HP:0003679	HP:0003677	Slowly progressive	1	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	.
HP:0003679	HP:0003677	Slowly progressive	1	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.	46
HP:0003679	HP:0003678	Rapidly progressive	1	CRYAB CL E G H	1410	2389	OMIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related	.	46
HP:0003679	HP:0003676	Progressive	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.	149
HP:0003679	HP:0003678	Rapidly progressive	1	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids	.	149
HP:0003679	HP:0003676	Progressive	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.	160
HP:0003679	HP:0003676	Progressive	1	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13	.	20
HP:0003679	HP:0003677	Slowly progressive	1	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17	.	9
HP:0003679	HP:0003676	Progressive	1	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive	.	57
HP:0003679	HP:0003677	Slowly progressive	1	DAB1 CL E G H	1600	2661	OMIM:615945	Spinocerebellar ataxia 37	.	4
HP:0003679	HP:0003676	Progressive	1	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0003679	HP:0003677	Slowly progressive	1	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation	.	60
HP:0003679	HP:0003676	Progressive	1	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal	.	8
HP:0003679	HP:0003677	Slowly progressive	1	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB	.	86
HP:0003679	HP:0003678	Rapidly progressive	1	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome	.	86
HP:0003679	HP:0003677	Slowly progressive	1	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive	.	35
HP:0003679	HP:0003676	Progressive	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	.	29
HP:0003679	HP:0003676	Progressive	1	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18	.
HP:0003679	HP:0003676	Progressive	1	DGKE CL E G H	8526	2852	OMIM:615008	Nephrotic syndrome, type 7	.	17
HP:0003679	HP:0003676	Progressive	1	DIABLO CL E G H	56616	21528	OMIM:614152	Deafness, autosomal dominant 64	.	11
HP:0003679	HP:0003676	Progressive	1	DMXL2 CL E G H	23312	2938	OMIM:617605	DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA71		3
HP:0003679	HP:0003677	Slowly progressive	1	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.	41
HP:0003679	HP:0003676	Progressive	1	DNAJB11 CL E G H	51726	14889	OMIM:618061	Polycystic kidney disease 6 with or without polycystic liver disease	.
HP:0003679	HP:0003677	Slowly progressive	1	DNAJB2 CL E G H	3300	5228	OMIM:614881	Spinal muscular atrophy, distal, autosomal recessive, 5	.	30
HP:0003679	HP:0003677	Slowly progressive	1	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E	.	103
HP:0003679	HP:0003678	Rapidly progressive	1	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant	.	155
HP:0003679	HP:0003678	Rapidly progressive	1	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset	.	6
HP:0003679	HP:0003677	Slowly progressive	1	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset	.	6
HP:0003679	HP:0003676	Progressive	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.	94
HP:0003679	HP:0003677	Slowly progressive	1	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5	.	94
HP:0003679	HP:0003677	Slowly progressive	1	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant	.	167
HP:0003679	HP:0003676	Progressive	1	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	.	145
HP:0003679	HP:0003676	Progressive	1	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE	.	145
HP:0003679	HP:0003677	Slowly progressive	1	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates	.	38
HP:0003679	HP:0003676	Progressive	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0003679	HP:0003676	Progressive	1	DRD3 CL E G H	1814	3024	OMIM:190300	Tremor, hereditary essential, 1	.	21
HP:0003679	HP:0003677	Slowly progressive	1	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O	.	427
HP:0003679	HP:0003677	Slowly progressive	1	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	.	427
HP:0003679	HP:0003677	Slowly progressive	1	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B	.	600
HP:0003679	HP:0003678	Rapidly progressive	1	DYSF CL E G H	8291	3097	OMIM:606768	Myopathy, distal, with anterior tibial onset	.	600
HP:0003679	HP:0003677	Slowly progressive	1	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5	.	4
HP:0003679	HP:0003677	Slowly progressive	1	EEF2 CL E G H	1938	3214	OMIM:609306	Spinocerebellar ataxia 26	.	4
HP:0003679	HP:0003677	Slowly progressive	1	ELOVL5 CL E G H	60481	21308	OMIM:615957	Spinocerebellar ataxia 38	.	4
HP:0003679	HP:0003676	Progressive	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0003679	HP:0003676	Progressive	1	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58	.	6
HP:0003679	HP:0003676	Progressive	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation	.	5
HP:0003679	HP:0003677	Slowly progressive	1	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked	.	107
HP:0003679	HP:0003678	Rapidly progressive	1	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora	.	83
HP:0003679	HP:0003676	Progressive	1	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	.
HP:0003679	HP:0003676	Progressive	1	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive	.	2
HP:0003679	HP:0003676	Progressive	1	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.	18
HP:0003679	HP:0003677	Slowly progressive	1	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.	18
HP:0003679	HP:0003676	Progressive	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0003679	HP:0003676	Progressive	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.	76
HP:0003679	HP:0003676	Progressive	1	FAN1 CL E G H	22909	29170	OMIM:614817	Interstitial nephritis, karyomegalic	.	15
HP:0003679	HP:0003677	Slowly progressive	1	FARS2 CL E G H	10667	21062	OMIM:617046	Spastic paraplegia 77, autosomal recessive	.	36
HP:0003679	HP:0003677	Slowly progressive	1	FAT2 CL E G H	2196	3596	OMIM:617769	Spinocerebellar ataxia 45	.	2
HP:0003679	HP:0003677	Slowly progressive	1	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID	.	1
HP:0003679	HP:0003677	Slowly progressive	1	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset	.	36
HP:0003679	HP:0003680	Nonprogressive	1	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant	.	47
HP:0003679	HP:0003678	Rapidly progressive	1	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset	.	68
HP:0003679	HP:0003678	Rapidly progressive	1	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe	.	68
HP:0003679	HP:0003676	Progressive	1	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy	.	68
HP:0003679	HP:0003676	Progressive	1	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J	.	111
HP:0003679	HP:0003676	Progressive	1	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4	.	184
HP:0003679	HP:0003677	Slowly progressive	1	FLNC CL E G H	2318	3756	OMIM:609524	Filaminopathy, autosomal dominant	.	197
HP:0003679	HP:0003677	Slowly progressive	1	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4	.	197
HP:0003679	HP:0003677	Slowly progressive	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0003679	HP:0003677	Slowly progressive	1	FN1 CL E G H	2335	3778	OMIM:601894	Glomerulopathy with fibronectin deposits 2	.	9
HP:0003679	HP:0003677	Slowly progressive	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.	1
HP:0003679	HP:0003676	Progressive	1	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.	33
HP:0003679	HP:0003677	Slowly progressive	1	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1	.	109
HP:0003679	HP:0003677	Slowly progressive	1	FZD6 CL E G H	8323	4044	OMIM:161050	Nail disorder, nonsyndromic congenital, 1	.	3
HP:0003679	HP:0003677	Slowly progressive	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.	121
HP:0003679	HP:0003677	Slowly progressive	1	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D	.
HP:0003679	HP:0003677	Slowly progressive	1	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA	.
HP:0003679	HP:0003676	Progressive	1	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0003679	HP:0003676	Progressive	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.	30
HP:0003679	HP:0003677	Slowly progressive	1	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form	.	86
HP:0003679	HP:0003678	Rapidly progressive	1	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A	.	108
HP:0003679	HP:0003677	Slowly progressive	1	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27	.
HP:0003679	HP:0003676	Progressive	1	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0003679	HP:0003680	Nonprogressive	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	128
HP:0003679	HP:0003677	Slowly progressive	1	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	.	107
HP:0003679	HP:0003676	Progressive	1	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0003679	HP:0003676	Progressive	1	GNAS CL E G H	2778	4392	OMIM:166350	Osseous heteroplasia, progressive	.	101
HP:0003679	HP:0003677	Slowly progressive	1	GNB4 CL E G H	59345	20731	OMIM:615185	Charcot-Marie-Tooth disease, dominant intermediate F	.	12
HP:0003679	HP:0003676	Progressive	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0003679	HP:0003676	Progressive	1	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6	.	88
HP:0003679	HP:0003676	Progressive	1	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49	.	4
HP:0003679	HP:0003676	Progressive	1	GRHL2 CL E G H	79977	2799	OMIM:608641	Deafness, autosomal dominant nonsyndromic sensorineural 28	.	33
HP:0003679	HP:0003677	Slowly progressive	1	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44		8
HP:0003679	HP:0003677	Slowly progressive	1	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0003679	HP:0003678	Rapidly progressive	1	GRN CL E G H	2896	4601	OMIM:614706	Ceroid lipofuscinosis, neuronal, 11	.	126
HP:0003679	HP:0003677	Slowly progressive	1	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2	.	18
HP:0003679	HP:0003677	Slowly progressive	1	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A	.	82
HP:0003679	HP:0003676	Progressive	1	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive	.	12
HP:0003679	HP:0003676	Progressive	1	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type	.	11
HP:0003679	HP:0003678	Rapidly progressive	1	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	.
HP:0003679	HP:0003677	Slowly progressive	1	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.	5
HP:0003679	HP:0003680	Nonprogressive	1	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	.	2
HP:0003679	HP:0003677	Slowly progressive	1	HPCA CL E G H	3208	5144	OMIM:224500	Dystonia 2, torsion, autosomal recessive	.	4
HP:0003679	HP:0003676	Progressive	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0003679	HP:0003676	Progressive	1	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0003679	HP:0003677	Slowly progressive	1	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB	.	47
HP:0003679	HP:0003677	Slowly progressive	1	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC	.	13
HP:0003679	HP:0003676	Progressive	1	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant	.	46
HP:0003679	HP:0003676	Progressive	1	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.	16
HP:0003679	HP:0003677	Slowly progressive	1	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive	.	16
HP:0003679	HP:0003677	Slowly progressive	1	IGHMBP2 CL E G H	3508	5542	OMIM:616155	Charcot-Marie-Tooth disease, axonal, type 2S	.	209
HP:0003679	HP:0003680	Nonprogressive	1	ILDR1 CL E G H	286676	28741	OMIM:609646	Deafness, neurosensory, autosomal recessive 42	.	42
HP:0003679	HP:0003676	Progressive	1	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E	.	135
HP:0003679	HP:0003676	Progressive	1	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	.	7
HP:0003679	HP:0003676	Progressive	1	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0003679	HP:0003676	Progressive	1	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	.
HP:0003679	HP:0003676	Progressive	1	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5	.	1
HP:0003679	HP:0003676	Progressive	1	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4	.	7
HP:0003679	HP:0003677	Slowly progressive	1	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15	.	177
HP:0003679	HP:0003676	Progressive	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0003679	HP:0003677	Slowly progressive	1	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6	.	80
HP:0003679	HP:0003676	Progressive	1	KCNC1 CL E G H	3746	6233	OMIM:616187	Epilepsy, progressive myoclonic 7	.	6
HP:0003679	HP:0003677	Slowly progressive	1	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13	.	17
HP:0003679	HP:0003677	Slowly progressive	1	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19	.	35
HP:0003679	HP:0003676	Progressive	1	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4	.	7
HP:0003679	HP:0003676	Progressive	1	KCNQ4 CL E G H	9132	6298	OMIM:600101	Deafness, autosomal dominant nonsyndromic sensorineural 2	.	76
HP:0003679	HP:0003676	Progressive	1	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14	.	321
HP:0003679	HP:0003676	Progressive	1	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic	.	1
HP:0003679	HP:0003676	Progressive	1	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions	.	106
HP:0003679	HP:0003676	Progressive	1	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9	.	276
HP:0003679	HP:0003677	Slowly progressive	1	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	276
HP:0003679	HP:0003676	Progressive	1	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC	.	276
HP:0003679	HP:0003677	Slowly progressive	1	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive	.	276
HP:0003679	HP:0003677	Slowly progressive	1	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1	.	202
HP:0003679	HP:0003676	Progressive	1	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive	.	38
HP:0003679	HP:0003676	Progressive	1	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.	93
HP:0003679	HP:0003676	Progressive	1	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.	1
HP:0003679	HP:0003676	Progressive	1	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset	.	11
HP:0003679	HP:0003680	Nonprogressive	1	KRT12 CL E G H	3859	6414	OMIM:122100	Meesmann corneal dystrophy 1		22
HP:0003679	HP:0003677	Slowly progressive	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0003679	HP:0003677	Slowly progressive	1	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0003679	HP:0003676	Progressive	1	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5	.	71
HP:0003679	HP:0003676	Progressive	1	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W	.	10
HP:0003679	HP:0003677	Slowly progressive	1	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.	645
HP:0003679	HP:0003676	Progressive	1	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	.	645
HP:0003679	HP:0003676	Progressive	1	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related	.	645
HP:0003679	HP:0003676	Progressive	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.	44
HP:0003679	HP:0003676	Progressive	1	LMNB2 CL E G H	84823	6638	OMIM:616540	Epilepsy, progressive myoclonic, 9	.	11
HP:0003679	HP:0003677	Slowly progressive	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1	.
HP:0003679	HP:0003677	Slowly progressive	1	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1	.	125
HP:0003679	HP:0003677	Slowly progressive	1	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant	.	221
HP:0003679	HP:0003677	Slowly progressive	1	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P		102
HP:0003679	HP:0003678	Rapidly progressive	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.	10
HP:0003679	HP:0003676	Progressive	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.	10
HP:0003679	HP:0003677	Slowly progressive	1	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.	4
HP:0003679	HP:0003676	Progressive	1	MAP2K1 CL E G H	5604	6840	OMIM:155950	Melorheostosis, isolated	.	134
HP:0003679	HP:0003677	Slowly progressive	1	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion	.	2
HP:0003679	HP:0003676	Progressive	1	MAPKBP1 CL E G H	23005	29536	OMIM:617271	Nephronophthisis 20	.	6
HP:0003679	HP:0003676	Progressive	1	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.	140
HP:0003679	HP:0003680	Nonprogressive	1	MARCHF6 CL E G H	10299	30550	OMIM:613608	Epilepsy, familial adult myoclonic, 3	.
HP:0003679	HP:0003677	Slowly progressive	1	MARS1 CL E G H	4141	6898	OMIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U	.
HP:0003679	HP:0003676	Progressive	1	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease	.
HP:0003679	HP:0003677	Slowly progressive	1	MCM2 CL E G H	4171	6944	OMIM:616968	Deafness, autosomal dominant 70	.	1
HP:0003679	HP:0003677	Slowly progressive	1	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	.	3
HP:0003679	HP:0003676	Progressive	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0003679	HP:0003677	Slowly progressive	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13	.	950
HP:0003679	HP:0003676	Progressive	1	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	.	6
HP:0003679	HP:0003676	Progressive	1	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	.	23
HP:0003679	HP:0003676	Progressive	1	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	.	17
HP:0003679	HP:0003677	Slowly progressive	1	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	.	203
HP:0003679	HP:0003676	Progressive	1	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive	.	5
HP:0003679	HP:0003678	Rapidly progressive	1	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7	.	120
HP:0003679	HP:0003676	Progressive	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	.	11
HP:0003679	HP:0003676	Progressive	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0003679	HP:0003677	Slowly progressive	1	MME CL E G H	4311	7154	OMIM:617017	Charcot-Marie-Tooth disease, axonal, type 2T	.	18
HP:0003679	HP:0003677	Slowly progressive	1	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43		18
HP:0003679	HP:0003676	Progressive	1	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0003679	HP:0003676	Progressive	1	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.	26
HP:0003679	HP:0003677	Slowly progressive	1	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z	.	8
HP:0003679	HP:0003676	Progressive	1	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE	.	56
HP:0003679	HP:0003676	Progressive	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0003679	HP:0003677	Slowly progressive	1	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	.	134
HP:0003679	HP:0003677	Slowly progressive	1	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	134
HP:0003679	HP:0003676	Progressive	1	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1	.	532
HP:0003679	HP:0003676	Progressive	1	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	.	1
HP:0003679	HP:0003676	Progressive	1	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.	85
HP:0003679	HP:0003677	Slowly progressive	1	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant	.	7
HP:0003679	HP:0003677	Slowly progressive	1	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive	.	19
HP:0003679	HP:0003676	Progressive	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7	.
HP:0003679	HP:0003676	Progressive	1	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss	.	227
HP:0003679	HP:0003677	Slowly progressive	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269
HP:0003679	HP:0003677	Slowly progressive	1	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage	.	1269
HP:0003679	HP:0003677	Slowly progressive	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive	.	1269
HP:0003679	HP:0003677	Slowly progressive	1	MYH7 CL E G H	4625	7577	OMIM:181430	Scapuloperoneal myopathy, myh7-related	.	1269
HP:0003679	HP:0003677	Slowly progressive	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0003679	HP:0003676	Progressive	1	MYO1E CL E G H	4643	7599	OMIM:614131	Focal segmental glomerulosclerosis 6	.	3
HP:0003679	HP:0003676	Progressive	1	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive	.
HP:0003679	HP:0003677	Slowly progressive	1	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body	.	75
HP:0003679	HP:0003677	Slowly progressive	1	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY	.	75
HP:0003679	HP:0003677	Slowly progressive	1	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive	.	217
HP:0003679	HP:0003676	Progressive	1	NAGLU CL E G H	4669	7632	OMIM:616491	Charcot-Marie-Tooth disease, axonal, type 2V	.	72
HP:0003679	HP:0003676	Progressive	1	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.	48
HP:0003679	HP:0003678	Rapidly progressive	1	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	.	9
HP:0003679	HP:0003676	Progressive	1	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome	.	127
HP:0003679	HP:0003676	Progressive	1	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23	.	7
HP:0003679	HP:0003677	Slowly progressive	1	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28	.	3
HP:0003679	HP:0003676	Progressive	1	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10	.	26
HP:0003679	HP:0003676	Progressive	1	NDUFB9 CL E G H	4715	7704	OMIM:618245	Mitochondrial complex I deficiency, nuclear type 24	.	16
HP:0003679	HP:0003676	Progressive	1	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.	81
HP:0003679	HP:0003676	Progressive	1	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3	.	38
HP:0003679	HP:0003676	Progressive	1	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC	.	24
HP:0003679	HP:0003677	Slowly progressive	1	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G	.	118
HP:0003679	HP:0003678	Rapidly progressive	1	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora	.	77
HP:0003679	HP:0003676	Progressive	1	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.	117
HP:0003679	HP:0003676	Progressive	1	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	.	2
HP:0003679	HP:0003677	Slowly progressive	1	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation	.	217
HP:0003679	HP:0003677	Slowly progressive	1	NOL3 CL E G H	8996	7869	OMIM:614937	Myoclonus, familial cortical	.	1
HP:0003679	HP:0003676	Progressive	1	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36		9
HP:0003679	HP:0003678	Rapidly progressive	1	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1	.	241
HP:0003679	HP:0003678	Rapidly progressive	1	NPHS2 CL E G H	7827	13394	OMIM:600995	Nephrotic syndrome, type 2	.	69
HP:0003679	HP:0003678	Rapidly progressive	1	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0003679	HP:0003676	Progressive	1	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.	27
HP:0003679	HP:0003676	Progressive	1	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7	.	5
HP:0003679	HP:0003676	Progressive	1	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11	.	5
HP:0003679	HP:0003676	Progressive	1	NUP133 CL E G H	55746	18016	OMIM:618177	NEPHROTIC SYNDROME, TYPE 18; NPHS18		1
HP:0003679	HP:0003676	Progressive	1	NUP160 CL E G H	23279	18017	OMIM:618178	Nephrotic syndrome, type 19	.
HP:0003679	HP:0003676	Progressive	1	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9	.	1
HP:0003679	HP:0003676	Progressive	1	NUP85 CL E G H	79902	8734	OMIM:618176	Nephrotic syndrome, type 17	.
HP:0003679	HP:0003676	Progressive	1	NUP93 CL E G H	9688	28958	OMIM:616892	Nephrotic syndrome, type 12	.	5
HP:0003679	HP:0003676	Progressive	1	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome	.	214
HP:0003679	HP:0003676	Progressive	1	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.	214
HP:0003679	HP:0003676	Progressive	1	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12		62
HP:0003679	HP:0003677	Slowly progressive	1	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2	.	19
HP:0003679	HP:0003676	Progressive	1	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy	.	10
HP:0003679	HP:0003677	Slowly progressive	1	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	.	55
HP:0003679	HP:0003678	Rapidly progressive	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0003679	HP:0003677	Slowly progressive	1	PARK7 CL E G H	11315	16369	OMIM:606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7		23
HP:0003679	HP:0003676	Progressive	1	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.	6
HP:0003679	HP:0003676	Progressive	1	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2	.	1
HP:0003679	HP:0003680	Nonprogressive	1	PDE10A CL E G H	10846	8772	OMIM:616922	Striatal degeneration, autosomal dominant 2	.	5
HP:0003679	HP:0003677	Slowly progressive	1	PDE8B CL E G H	8622	8794	OMIM:609161	Striatal degeneration, autosomal dominant	.	75
HP:0003679	HP:0003676	Progressive	1	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	9
HP:0003679	HP:0003676	Progressive	1	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5	.	9
HP:0003679	HP:0003676	Progressive	1	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	28
HP:0003679	HP:0003677	Slowly progressive	1	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6	.	4
HP:0003679	HP:0003676	Progressive	1	PDXK CL E G H	8566	8819	OMIM:618511	Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy	.
HP:0003679	HP:0003677	Slowly progressive	1	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23	.	52
HP:0003679	HP:0003678	Rapidly progressive	1	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)	.	75
HP:0003679	HP:0003677	Slowly progressive	1	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B	.	75
HP:0003679	HP:0003676	Progressive	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B	.	59
HP:0003679	HP:0003677	Slowly progressive	1	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.	82
HP:0003679	HP:0003676	Progressive	1	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch	.	77
HP:0003679	HP:0003676	Progressive	1	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3	.	11
HP:0003679	HP:0003677	Slowly progressive	1	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset	.	55
HP:0003679	HP:0003676	Progressive	1	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2	.	106
HP:0003679	HP:0003676	Progressive	1	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.	133
HP:0003679	HP:0003678	Rapidly progressive	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive	.	133
HP:0003679	HP:0003676	Progressive	1	PLCE1 CL E G H	51196	17175	OMIM:610725	Nephrotic syndrome, type 3	.	118
HP:0003679	HP:0003677	Slowly progressive	1	PLD3 CL E G H	23646	17158	OMIM:617770	Spinocerebellar ataxia 46	.	2
HP:0003679	HP:0003678	Rapidly progressive	1	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q	.	759
HP:0003679	HP:0003678	Rapidly progressive	1	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4	.	186
HP:0003679	HP:0003677	Slowly progressive	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0003679	HP:0003677	Slowly progressive	1	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G	.	1
HP:0003679	HP:0003677	Slowly progressive	1	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.	79
HP:0003679	HP:0003677	Slowly progressive	1	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	79
HP:0003679	HP:0003680	Nonprogressive	1	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	.	7
HP:0003679	HP:0003676	Progressive	1	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6	.
HP:0003679	HP:0003678	Rapidly progressive	1	PNKP CL E G H	11284	9154	OMIM:616267	Ataxia-Oculomotor apraxia 4	.	244
HP:0003679	HP:0003677	Slowly progressive	1	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	.	65
HP:0003679	HP:0003676	Progressive	1	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome		103
HP:0003679	HP:0003676	Progressive	1	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.	3
HP:0003679	HP:0003677	Slowly progressive	1	POGLUT1 CL E G H	56983	22954	OMIM:617232	Muscular dystrophy, limb-girdle, type 2Z	.	6
HP:0003679	HP:0003676	Progressive	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	464
HP:0003679	HP:0003678	Rapidly progressive	1	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.	464
HP:0003679	HP:0003676	Progressive	1	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	.	464
HP:0003679	HP:0003676	Progressive	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0003679	HP:0003676	Progressive	1	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	.	45
HP:0003679	HP:0003676	Progressive	1	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	138
HP:0003679	HP:0003676	Progressive	1	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	67
HP:0003679	HP:0003676	Progressive	1	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3	.	180
HP:0003679	HP:0003677	Slowly progressive	1	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	.	213
HP:0003679	HP:0003676	Progressive	1	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10	.	1
HP:0003679	HP:0003676	Progressive	1	PRICKLE1 CL E G H	144165	17019	OMIM:612437	Epilepsy, progressive myoclonic 1B	.	133
HP:0003679	HP:0003677	Slowly progressive	1	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14	.	83
HP:0003679	HP:0003676	Progressive	1	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.	37
HP:0003679	HP:0003678	Rapidly progressive	1	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	.	69
HP:0003679	HP:0003678	Rapidly progressive	1	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.	69
HP:0003679	HP:0003676	Progressive	1	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.	8
HP:0003679	HP:0003677	Slowly progressive	1	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F	.	170
HP:0003679	HP:0003678	Rapidly progressive	1	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	.	241
HP:0003679	HP:0003676	Progressive	1	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.	6
HP:0003679	HP:0003676	Progressive	1	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47	.	1
HP:0003679	HP:0003676	Progressive	1	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.	11
HP:0003679	HP:0003677	Slowly progressive	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0003679	HP:0003676	Progressive	1	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	.
HP:0003679	HP:0003676	Progressive	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.	93
HP:0003679	HP:0003676	Progressive	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency	.	10
HP:0003679	HP:0003677	Slowly progressive	1	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive	.	3
HP:0003679	HP:0003676	Progressive	1	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7	.
HP:0003679	HP:0003677	Slowly progressive	1	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	54
HP:0003679	HP:0003676	Progressive	1	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB	.	54
HP:0003679	HP:0003677	Slowly progressive	1	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	.
HP:0003679	HP:0003676	Progressive	1	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	.	3
HP:0003679	HP:0003676	Progressive	1	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3	.	60
HP:0003679	HP:0003677	Slowly progressive	1	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly	.	37
HP:0003679	HP:0003676	Progressive	1	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	.	125
HP:0003679	HP:0003676	Progressive	1	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.	25
HP:0003679	HP:0003676	Progressive	1	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15		9
HP:0003679	HP:0003677	Slowly progressive	1	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease	.	1200
HP:0003679	HP:0003680	Nonprogressive	1	SAMD12 CL E G H	401474	31750	OMIM:601068	Epilepsy, familial adult myoclonic, 1	.	2
HP:0003679	HP:0003676	Progressive	1	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3	.	16
HP:0003679	HP:0003678	Rapidly progressive	1	SCARB2 CL E G H	950	1665	OMIM:254900	Epilepsy, progressive myoclonic, 4, with or without renal failure	.	77
HP:0003679	HP:0003680	Nonprogressive	1	SCN8A CL E G H	6334	10596	OMIM:618364	MYOCLONUS, FAMILIAL, 2; MYOCL2		357
HP:0003679	HP:0003677	Slowly progressive	1	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	318
HP:0003679	HP:0003676	Progressive	1	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5	.	2
HP:0003679	HP:0003677	Slowly progressive	1	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile	.	162
HP:0003679	HP:0003676	Progressive	1	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1	.	162
HP:0003679	HP:0003676	Progressive	1	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D	.	132
HP:0003679	HP:0003678	Rapidly progressive	1	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C	.	83
HP:0003679	HP:0003676	Progressive	1	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.	8
HP:0003679	HP:0003677	Slowly progressive	1	SIGMAR1 CL E G H	10280	8157	OMIM:614373	Amyotrophic lateral sclerosis 16, juvenile	.	6
HP:0003679	HP:0003676	Progressive	1	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2	.	6
HP:0003679	HP:0003676	Progressive	1	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0003679	HP:0003676	Progressive	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0003679	HP:0003676	Progressive	1	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	70
HP:0003679	HP:0003677	Slowly progressive	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)	.	68
HP:0003679	HP:0003676	Progressive	1	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	.	68
HP:0003679	HP:0003676	Progressive	1	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration	.	48
HP:0003679	HP:0003677	Slowly progressive	1	SLC34A2 CL E G H	10568	11020	OMIM:265100	Pulmonary alveolar microlithiasis	.	7
HP:0003679	HP:0003676	Progressive	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2	.	5
HP:0003679	HP:0003676	Progressive	1	SLC44A4 CL E G H	80736	13941	OMIM:617606	Deafness, autosomal dominant 72	.	1
HP:0003679	HP:0003676	Progressive	1	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	.	47
HP:0003679	HP:0003676	Progressive	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0003679	HP:0003677	Slowly progressive	1	SLC5A7 CL E G H	60482	14025	OMIM:158580	Neuronopathy, distal hereditary motor, type VIIA	.	9
HP:0003679	HP:0003676	Progressive	1	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1	.	13
HP:0003679	HP:0003676	Progressive	1	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome	.	2
HP:0003679	HP:0003676	Progressive	1	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2	.	132
HP:0003679	HP:0003676	Progressive	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III	.	22
HP:0003679	HP:0003677	Slowly progressive	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV	.	22
HP:0003679	HP:0003676	Progressive	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III	.	1
HP:0003679	HP:0003676	Progressive	1	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant	.	65
HP:0003679	HP:0003678	Rapidly progressive	1	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4	.	65
HP:0003679	HP:0003676	Progressive	1	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.	35
HP:0003679	HP:0003676	Progressive	1	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts	.	6
HP:0003679	HP:0003676	Progressive	1	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.	26
HP:0003679	HP:0003676	Progressive	1	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7
HP:0003679	HP:0003676	Progressive	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0003679	HP:0003677	Slowly progressive	1	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile	.	287
HP:0003679	HP:0003677	Slowly progressive	1	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X	.	287
HP:0003679	HP:0003676	Progressive	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0003679	HP:0003677	Slowly progressive	1	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	.	28
HP:0003679	HP:0003676	Progressive	1	SPRY2 CL E G H	10253	11270	OMIM:616818	Iga nephropathy, susceptibility to, 3	.	1
HP:0003679	HP:0003677	Slowly progressive	1	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5	.	126
HP:0003679	HP:0003677	Slowly progressive	1	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14	.	126
HP:0003679	HP:0003676	Progressive	1	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.	62
HP:0003679	HP:0003676	Progressive	1	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	.	62
HP:0003679	HP:0003680	Nonprogressive	1	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2	.
HP:0003679	HP:0003677	Slowly progressive	1	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1	.	31
HP:0003679	HP:0003676	Progressive	1	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome	.	31
HP:0003679	HP:0003676	Progressive	1	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0003679	HP:0003676	Progressive	1	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16	.	14
HP:0003679	HP:0003677	Slowly progressive	1	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K	.	73
HP:0003679	HP:0003676	Progressive	1	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	.	1129
HP:0003679	HP:0003677	Slowly progressive	1	SYNE1 CL E G H	23345	17089	OMIM:610743	Spinocerebellar ataxia, autosomal recessive 8	.	1129
HP:0003679	HP:0003676	Progressive	1	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset	.	9
HP:0003679	HP:0003677	Slowly progressive	1	SYT14 CL E G H	255928	23143	OMIM:614229	Spinocerebellar ataxia, autosomal recessive 11	.	4
HP:0003679	HP:0003678	Rapidly progressive	1	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	.	65
HP:0003679	HP:0003677	Slowly progressive	1	TBC1D24 CL E G H	57465	29203	OMIM:616044	Deafness, autosomal dominant 65	.	271
HP:0003679	HP:0003676	Progressive	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	.	271
HP:0003679	HP:0003676	Progressive	1	TBC1D24 CL E G H	57465	29203	OMIM:615338	Epileptic encephalopathy, early infantile, 16	.	271
HP:0003679	HP:0003676	Progressive	1	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO		52
HP:0003679	HP:0003676	Progressive	1	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.	20
HP:0003679	HP:0003676	Progressive	1	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.	7
HP:0003679	HP:0003676	Progressive	1	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.	7
HP:0003679	HP:0003677	Slowly progressive	1	TEAD1 CL E G H	7003	11714	OMIM:108985	Sveinsson chorioretinal atrophy	.	1
HP:0003679	HP:0003677	Slowly progressive	1	TENM4 CL E G H	26011	29945	OMIM:616736	Tremor, hereditary essential, 5	.	5
HP:0003679	HP:0003676	Progressive	1	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	.	1
HP:0003679	HP:0003677	Slowly progressive	1	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type	.	18
HP:0003679	HP:0003677	Slowly progressive	1	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35	.	58
HP:0003679	HP:0003677	Slowly progressive	1	TIA1 CL E G H	7072	11802	OMIM:604454	Welander distal myopathy	.	5
HP:0003679	HP:0003676	Progressive	1	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4		149
HP:0003679	HP:0003676	Progressive	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.	103
HP:0003679	HP:0003677	Slowly progressive	1	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21	.	9
HP:0003679	HP:0003677	Slowly progressive	1	TMEM43 CL E G H	79188	28472	OMIM:614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	.	171
HP:0003679	HP:0003676	Progressive	1	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis	.	72
HP:0003679	HP:0003676	Progressive	1	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset	.	72
HP:0003679	HP:0003676	Progressive	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	.	44
HP:0003679	HP:0003677	Slowly progressive	1	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y	.	10
HP:0003679	HP:0003677	Slowly progressive	1	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7	.	203
HP:0003679	HP:0003676	Progressive	1	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68	.
HP:0003679	HP:0003676	Progressive	1	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	.	2
HP:0003679	HP:0003676	Progressive	1	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	.
HP:0003679	HP:0003676	Progressive	1	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	.
HP:0003679	HP:0003676	Progressive	1	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.	56
HP:0003679	HP:0003677	Slowly progressive	1	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0003679	HP:0003676	Progressive	1	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0003679	HP:0003676	Progressive	1	TRPC3 CL E G H	7222	12335	OMIM:616410	Spinocerebellar ataxia 41	.	1
HP:0003679	HP:0003680	Nonprogressive	1	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.	214
HP:0003679	HP:0003676	Progressive	1	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10	.	7128
HP:0003679	HP:0003677	Slowly progressive	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0003679	HP:0003677	Slowly progressive	1	TTN CL E G H	7273	12403	OMIM:600334	Tibial muscular dystrophy, tardive	.	7128
HP:0003679	HP:0003676	Progressive	1	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.	107
HP:0003679	HP:0003676	Progressive	1	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.	66
HP:0003679	HP:0003680	Nonprogressive	1	TUBB6 CL E G H	84617	20776	OMIM:617732	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	.
HP:0003679	HP:0003676	Progressive	1	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	.	113
HP:0003679	HP:0003676	Progressive	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.	113
HP:0003679	HP:0003676	Progressive	1	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29	.	1
HP:0003679	HP:0003676	Progressive	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	138
HP:0003679	HP:0003676	Progressive	1	UBA5 CL E G H	79876	23230	OMIM:617133	Spinocerebellar ataxia, autosomal recessive 24	.	13
HP:0003679	HP:0003676	Progressive	1	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia	.	20
HP:0003679	HP:0003676	Progressive	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.	21
HP:0003679	HP:0003676	Progressive	1	UMOD CL E G H	7369	12559	OMIM:162000	Hyperuricemic nephropathy, familial juvenile, 1	.	66
HP:0003679	HP:0003676	Progressive	1	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset	.	6
HP:0003679	HP:0003676	Progressive	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0003679	HP:0003676	Progressive	1	VCP CL E G H	7415	12666	OMIM:616687	Charcot-Marie-Tooth disease, axonal, type 2Y	.	63
HP:0003679	HP:0003680	Nonprogressive	1	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	.	111
HP:0003679	HP:0003677	Slowly progressive	1	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy	.	10
HP:0003679	HP:0003676	Progressive	1	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.	130
HP:0003679	HP:0003676	Progressive	1	VPS13C CL E G H	54832	23594	OMIM:616840	Parkinson disease 23, autosomal recessive early-onset	.	8
HP:0003679	HP:0003676	Progressive	1	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0003679	HP:0003676	Progressive	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.	32
HP:0003679	HP:0003677	Slowly progressive	1	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22	.	1
HP:0003679	HP:0003677	Slowly progressive	1	WARS1 CL E G H	7453	12729	OMIM:617721	Neuronopathy, distal hereditary motor, type IX	.
HP:0003679	HP:0003676	Progressive	1	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.	83
HP:0003679	HP:0003676	Progressive	1	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	.	1
HP:0003679	HP:0003677	Slowly progressive	1	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	199
HP:0003679	HP:0003676	Progressive	1	WT1 CL E G H	7490	12796	OMIM:256370	Nephrotic syndrome, type 4	.	177
HP:0003679	HP:0003676	Progressive	1	XPR1 CL E G H	9213	12827	OMIM:616413	Basal ganglia calcification, idiopathic, 6	.	4
HP:0003679	HP:0003676	Progressive	1	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26	.	4
HP:0003679	HP:0003676	Progressive	1	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	.	45
HP:0003679	HP:0003680	Nonprogressive	1	YEATS2 CL E G H	55689	25489	OMIM:615127	Epilepsy, familial adult myoclonic, 4	.	1
HP:0003679	HP:0003676	Progressive	1	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.	189

Genes (450) :AAAS AARS2 ABCD1 ABCD3 ABHD12 ACER3 ACTA1 ACTN4 ADA2 ADH1C ADK ADSS1 AFG3L2 AGTPBP1 AIFM1 AIMP1 AIMP2 AKT1 ALDH18A1 ALG14 ALG2 ALS2 ANO5 ANTXR2 AP4B1 AP5Z1 APOE AR ARHGDIA ASAH1 ASNS ATAD1 ATG5 ATL1 ATN1 ATP11A ATP13A2 ATP1A1 ATP2B3 ATP6AP2 ATP7A ATXN2 ATXN3 ATXN8OS B4GALNT1 BAG3 BRAT1 BSCL2 C19ORF12 C9ORF72 CACNA1A CACNA1G CAD CCDC88C CCNO CERS1 CFHR5 CFL2 CHCHD10 CHKB CHRND CHRNE CLCN5 CLDN14 CLN8 CLPB COA7 COASY COCH COL4A3 COL4A4 COL4A5 COL6A1 COL6A2 COL6A3 COPB2 COQ2 COQ6 COQ8B COX6A1 CPT1C CRAT CRPPA CRYAB CSF1R CTC1 CTSF CWF19L1 CYP7B1 DAB1 DARS1 DARS2 DCDC2 DCTN1 DDHD1 DDHD2 DEGS1 DGKE DIABLO DMXL2 DNA2 DNAJB11 DNAJB2 DNAJB6 DNAJC5 DNAJC6 DNM1L DNM2 DNMT1 DPAGT1 DPM1 DRD3 DYNC1H1 DYSF DZIP1L EEF2 ELOVL5 ELP1 ELP2 EMC1 EMD EPM2A EPRS1 ERLIN1 ERLIN2 EXOSC9 FA2H FAN1 FARS2 FAT2 FBXO38 FBXO7 FGF14 FHL1 FIG4 FKTN FLNC FLVCR1 FN1 FRG1 FTL FZD4 FZD6 GAN GARS1 GBA1 GBA2 GBE1 GDAP1 GDAP2 GEMIN5 GFPT1 GJB1 GLUD2 GNAS GNB4 GNS GOSR2 GPT2 GRHL2 GRM1 GRN GYG1 HEPACAM HINT1 HK1 HLA-DQB1 HNRNPDL HOXB1 HPCA HPDL HSPB1 HSPB3 HSPD1 IBA57 IGHMBP2 ILDR1 INF2 INPP5K IREB2 IRF2BPL ISCA1 ISCA2 ITPR1 JAG2 KBTBD13 KCNC1 KCNC3 KCND3 KCNK3 KCNQ4 KCNT1 KCTD17 KCTD7 KIF1A KIF1B KIF1C KIF5A KLC2 KMT2B KRT12 KY LAMA2 LAMB1 LIMS2 LMNA LMNB1 LMNB2 LRP12 LRP5 LRRK2 LRSAM1 LYRM7 MAG MAP2K1 MAP3K20 MAPKBP1 MAPT MARCHF6 MARS1 MCM2 MCM3AP MECP2 MECR MED17 MFF MFN2 MFSD2A MFSD8 MGME1 MICOS13 MME MOCS1 MOCS2 MORC2 MPV17 MPZ MRE11 MRPS34 MTAP MTMR14 MTPAP MTRFR MYH14 MYH7 MYMK MYO1E MYORG MYOT MYPN NAGLU NALCN NAXE NBEAL2 NDUFA12 NDUFA13 NDUFAF2 NDUFB9 NDUFS1 NDUFS7 NEFH NEFL NHLRC1 NIPA1 NKX6-2 NLRP3 NOL3 NOP56 NPHS1 NPHS2 NR1H4 NR4A2 NUP107 NUP133 NUP160 NUP214 NUP85 NUP93 OPA1 OPTN ORAI1 PABPN1 PANK2 PARK7 PCLO PCNA PDE10A PDE8B PDGFB PDGFRB PDK3 PDXK PDYN PEX10 PEX16 PEX2 PIEZO2 PIK3R5 PINK1 PKD2 PLA2G6 PLCE1 PLD3 PLEC PLEKHG5 PLP1 PMP2 PMP22 PMPCA PMPCB PNKP PNPLA2 PNPLA6 PNPLA8 POGLUT1 POLG POLG2 POLR3A POLR3B POMGNT1 POMT1 PRDM8 PRICKLE1 PRKCG PRKRA PRNP PRUNE1 PRX PSEN1 PTRH2 PUM1 PYCR2 PYROXD1 QARS1 RARS2 RBCK1 REEP2 REPS1 RETREG1 RFC1 RNASEH1 RNASEH2C RNASET2 RRM2B RTN2 RUBCN RYR1 SAMD12 SBF1 SCARB2 SCN8A SCN9A SEC61A1 SETX SGCA SGCG SGPL1 SIGMAR1 SLC12A6 SLC20A2 SLC25A4 SLC33A1 SLC34A2 SLC39A14 SLC44A4 SLC52A2 SLC52A3 SLC5A7 SLC6A3 SLC9A1 SMAD9 SMN1 SMN2 SNCA SNCAIP SNORD118 SOST SOX18 SPAST SPG11 SPG21 SPRY2 SPTBN2 SQSTM1 STARD7 STIM1 STUB1 SURF1 SYNE1 SYNJ1 SYT14 TARDBP TBC1D24 TBCE TBK1 TBP TEAD1 TENM4 TFAM TFG TGM6 TIA1 TJP2 TK2 TMEM240 TMEM43 TNFRSF11A TNFRSF11B TOR1AIP1 TPP1 TRAK1 TRAPPC12 TRAPPC2L TRAPPC6B TREX1 TRIM32 TRNT TRPC3 TRPV4 TTN TTR TUBB4A TUBB6 TWNK TXN2 TYMP UBA5 UBQLN2 UCHL1 UMOD VAC14 VARS1 VCP VLDLR VMA21 VPS13A VPS13C VPS53 VRK1 VWA3B WARS1 WASHC5 WDR45B WNK1 WT1 XPR1 XRCC1 YARS2 YEATS2 ZFYVE26

Diseases (497) :OMIM:231550 OMIM:615889 OMIM:300100 OMIM:616278 OMIM:612674 OMIM:617762 OMIM:616852 OMIM:603278 OMIM:182410 OMIM:168600 OMIM:614300 OMIM:617030 OMIM:614487 OMIM:610246 OMIM:618276 OMIM:300816 OMIM:300614 OMIM:260600 OMIM:618006 OMIM:176920 OMIM:601162 OMIM:616586 OMIM:616227 OMIM:616228 OMIM:205100 OMIM:606353 OMIM:607225 OMIM:611307 OMIM:228600 OMIM:614066 OMIM:613647 OMIM:607822 OMIM:313200 OMIM:615244 OMIM:228000 OMIM:159950 OMIM:615574 OMIM:618011 OMIM:617584 OMIM:613708 OMIM:618494 OMIM:619810 OMIM:606693 OMIM:618036 OMIM:302500 OMIM:300911 OMIM:300489 OMIM:109150 OMIM:609195 OMIM:612954 OMIM:614498 OMIM:615924 OMIM:270685 OMIM:614298 OMIM:615043 OMIM:105550 OMIM:183086 OMIM:616795 OMIM:616457 OMIM:616053 OMIM:615872 OMIM:616230 OMIM:614809 OMIM:610687 OMIM:615911 OMIM:616209 OMIM:615048 OMIM:602541 OMIM:616321 OMIM:608931 OMIM:308990 OMIM:614035 OMIM:610003 OMIM:616271 OMIM:618387 OMIM:615643 OMIM:601369 OMIM:104200 OMIM:203780 OMIM:141200 OMIM:301050 OMIM:158810 OMIM:254090 OMIM:255600 OMIM:617800 OMIM:146500 OMIM:614650 OMIM:615573 OMIM:616039 OMIM:616282 OMIM:617917 OMIM:616052 OMIM:608810 OMIM:613869 OMIM:618476 OMIM:221820 OMIM:612199 OMIM:615362 OMIM:616127 OMIM:270800 OMIM:615945 OMIM:615281 OMIM:611105 OMIM:617394 OMIM:607641 OMIM:168605 OMIM:609340 OMIM:615033 OMIM:618404 OMIM:615008 OMIM:614152 OMIM:617605 OMIM:615156 OMIM:618061 OMIM:614881 OMIM:603511 OMIM:162350 OMIM:615528 OMIM:614388 OMIM:610708 OMIM:160150 OMIM:604121 OMIM:614116 OMIM:614750 OMIM:608799 OMIM:190300 OMIM:614228 OMIM:158600 OMIM:253601 OMIM:606768 OMIM:617610 OMIM:609306 OMIM:615957 OMIM:223900 OMIM:617270 OMIM:616875 OMIM:310300 OMIM:254780 OMIM:617951 OMIM:615681 OMIM:611225 OMIM:618065 OMIM:612319 OMIM:614817 OMIM:617046 OMIM:617769 OMIM:615575 OMIM:260300 OMIM:193003 OMIM:300718 OMIM:300717 OMIM:300696 OMIM:611228 OMIM:611588 OMIM:609524 OMIM:614065 OMIM:609033 OMIM:601894 OMIM:158900 OMIM:606159 OMIM:133780 OMIM:161050 OMIM:256850 OMIM:601472 OMIM:600794 OMIM:614409 OMIM:263570 OMIM:214400 OMIM:618369 OMIM:619333 OMIM:302800 OMIM:166350 OMIM:615185 OMIM:252940 OMIM:614018 OMIM:616281 OMIM:608641 OMIM:617691 OMIM:614831 OMIM:614706 OMIM:616199 OMIM:613925 OMIM:137200 OMIM:605285 OMIM:123400 OMIM:609115 OMIM:614744 OMIM:224500 OMIM:619026 OMIM:619027 OMIM:608634 OMIM:613376 OMIM:605280 OMIM:615330 OMIM:616451 OMIM:616155 OMIM:609646 OMIM:614455 OMIM:617404 OMIM:618451 OMIM:618088 OMIM:617613 OMIM:616370 OMIM:606658 OMIM:619566 OMIM:609273 OMIM:616187 OMIM:605259 OMIM:607346 OMIM:615344 OMIM:600101 OMIM:614959 OMIM:616398 OMIM:611726 OMIM:614255 OMIM:201300 OMIM:614213 OMIM:610357 OMIM:118210 OMIM:611302 OMIM:604187 OMIM:609541 OMIM:617284 OMIM:122100 OMIM:617114 OMIM:618138 OMIM:615191 OMIM:616827 OMIM:181350 OMIM:616516 OMIM:613205 OMIM:169500 OMIM:616540 OMIM:164310 OMIM:607060 OMIM:614436 OMIM:615838 OMIM:616680 OMIM:155950 OMIM:617760 OMIM:617271 OMIM:613608 OMIM:616280 OMIM:615486 OMIM:616968 OMIM:618124 OMIM:300260 OMIM:300055 OMIM:617282 OMIM:613668 OMIM:617086 OMIM:609260 OMIM:616486 OMIM:610951 OMIM:615084 OMIM:618329 OMIM:617017 OMIM:617018 OMIM:252150 OMIM:252160 OMIM:616688 OMIM:618400 OMIM:256810 OMIM:118200 OMIM:180800 OMIM:604391 OMIM:617664 OMIM:112250 OMIM:613672 OMIM:613559 OMIM:614369 OMIM:160500 OMIM:608358 OMIM:255160 OMIM:181430 OMIM:254940 OMIM:614131 OMIM:618317 OMIM:182920 OMIM:609200 OMIM:617336 OMIM:616491 OMIM:615419 OMIM:617186 OMIM:139090 OMIM:618244 OMIM:618249 OMIM:618233 OMIM:618245 OMIM:618226 OMIM:618224 OMIM:616924 OMIM:617882 OMIM:600363 OMIM:617560 OMIM:617772 OMIM:614937 OMIM:614153 OMIM:256300 OMIM:600995 OMIM:617049 OMIM:618348 OMIM:616730 OMIM:618177 OMIM:618178 OMIM:618426 OMIM:618176 OMIM:616892 OMIM:210000 OMIM:125250 OMIM:613435 OMIM:615883 OMIM:164300 OMIM:607236 OMIM:234200 OMIM:606324 OMIM:608027 OMIM:615919 OMIM:616922 OMIM:609161 OMIM:213600 OMIM:615483 OMIM:300905 OMIM:618511 OMIM:610245 OMIM:614870 OMIM:614871 OMIM:614877 OMIM:614867 OMIM:617146 OMIM:615217 OMIM:605909 OMIM:613095 OMIM:610217 OMIM:612953 OMIM:610725 OMIM:617770 OMIM:613723 OMIM:611067 OMIM:312080 OMIM:618279 OMIM:118220 OMIM:213200 OMIM:617954 OMIM:616267 OMIM:610717 OMIM:215470 OMIM:251950 OMIM:617232 OMIM:603041 OMIM:203700 OMIM:613662 OMIM:157640 OMIM:610131 OMIM:607694 OMIM:613157 OMIM:609308 OMIM:616640 OMIM:612437 OMIM:605361 OMIM:612067 OMIM:137440 OMIM:617481 OMIM:614895 OMIM:616263 OMIM:617931 OMIM:616420 OMIM:617258 OMIM:615760 OMIM:611523 OMIM:615895 OMIM:615625 OMIM:617916 OMIM:613115 OMIM:614575 OMIM:616479 OMIM:610329 OMIM:612951 OMIM:612075 OMIM:604805 OMIM:615705 OMIM:117000 OMIM:601068 OMIM:615284 OMIM:254900 OMIM:618364 OMIM:617056 OMIM:602433 OMIM:606002 OMIM:608099 OMIM:253700 OMIM:617575 OMIM:614373 OMIM:605726 OMIM:620068 OMIM:218000 OMIM:615418 OMIM:609283 OMIM:614482 OMIM:265100 OMIM:617013 OMIM:617606 OMIM:614707 OMIM:211530 OMIM:158580 OMIM:613135 OMIM:616291 OMIM:615342 OMIM:253400 OMIM:271150 OMIM:168601 OMIM:605543 OMIM:614561 OMIM:122860 OMIM:137940 OMIM:182601 OMIM:602099 OMIM:616668 OMIM:604360 OMIM:248900 OMIM:616818 OMIM:600224 OMIM:615386 OMIM:616437 OMIM:617145 OMIM:607876 OMIM:160565 OMIM:185070 OMIM:618093 OMIM:615768 OMIM:616684 OMIM:618484 OMIM:610743 OMIM:615530 OMIM:614229 OMIM:612069 OMIM:616044 OMIM:220500 OMIM:615338 OMIM:617207 OMIM:616439 OMIM:607136 OMIM:108985 OMIM:616736 OMIM:617156 OMIM:604484 OMIM:613908 OMIM:604454 OMIM:615878 OMIM:609560 OMIM:607454 OMIM:614302 OMIM:174810 OMIM:602080 OMIM:239000 OMIM:617072 OMIM:609270 OMIM:618201 OMIM:617669 OMIM:618331 OMIM:617862 OMIM:192315 OMIM:254110 OMIM:616410 OMIM:600175 OMIM:608807 OMIM:603689 OMIM:600334 OMIM:105210 OMIM:612438 OMIM:617732 OMIM:271245 OMIM:609286 OMIM:616811 OMIM:617133 OMIM:300857 OMIM:615491 OMIM:162000 OMIM:617054 OMIM:617802 OMIM:616687 OMIM:224050 OMIM:310440 OMIM:200150 OMIM:616840 OMIM:615851 OMIM:607596 OMIM:616948 OMIM:617721 OMIM:603563 OMIM:617977 OMIM:256370 OMIM:616413 OMIM:617633 OMIM:613561 OMIM:615127 OMIM:270700

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen