Human Phenotype Ontology

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

Grandparent Node:
Clinical course (HP:0031797)

Parent Node:
Pace of progression (HP:0003679)

..Starting node
..Slowly progressive (HP:0003677)

Term ID:

3677

Name:

Slowly progressive

Synonym:

Signs and symptoms worsen slowly with time; Slow disease progression; Slow progression; Slowly progressive disorder

Definition:

Applies to a disease manifestation that only slowly increases in scope or severity over the course of time.

Comments:

Reference:

HP:0003677

Genes and Diseases:

Child Nodes:

Sister Nodes:

Nonprogressive (HP:0003680)

Progressive (HP:0003676)

Rapidly progressive (HP:0003678)

Variable progression rate (HP:0003682)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003677	HP:0003677	Slowly progressive	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	.	50
HP:0003677	HP:0003677	Slowly progressive	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal	.	96
HP:0003677	HP:0003677	Slowly progressive	0	ACTN4 CL E G H	81	166	OMIM:603278	Focal segmental glomerulosclerosis 1	.	27
HP:0003677	HP:0003677	Slowly progressive	0	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5	.
HP:0003677	HP:0003677	Slowly progressive	0	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28	.	86
HP:0003677	HP:0003677	Slowly progressive	0	AIFM1 CL E G H	9131	8768	OMIM:300614	Deafness, X-linked 5	.	60
HP:0003677	HP:0003677	Slowly progressive	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.	89
HP:0003677	HP:0003677	Slowly progressive	0	ALG14 CL E G H	199857	28287	OMIM:616227	Myasthenic syndrome, congenital, 15	.	12
HP:0003677	HP:0003677	Slowly progressive	0	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14	.	46
HP:0003677	HP:0003677	Slowly progressive	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile	.	114
HP:0003677	HP:0003677	Slowly progressive	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.	114
HP:0003677	HP:0003677	Slowly progressive	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.	49
HP:0003677	HP:0003677	Slowly progressive	0	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1	.	125
HP:0003677	HP:0003677	Slowly progressive	0	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD	.	4
HP:0003677	HP:0003677	Slowly progressive	0	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked	.	36
HP:0003677	HP:0003677	Slowly progressive	0	ATP7A CL E G H	538	869	OMIM:300489	Spinal muscular atrophy, distal, X-linked 3	.	192
HP:0003677	HP:0003677	Slowly progressive	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.	25
HP:0003677	HP:0003677	Slowly progressive	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17	.	105
HP:0003677	HP:0003677	Slowly progressive	0	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive	.	114
HP:0003677	HP:0003677	Slowly progressive	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42	.	32
HP:0003677	HP:0003677	Slowly progressive	0	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40	.	54
HP:0003677	HP:0003677	Slowly progressive	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7	.	35
HP:0003677	HP:0003677	Slowly progressive	0	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant	.	11
HP:0003677	HP:0003677	Slowly progressive	0	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type	.	11
HP:0003677	HP:0003677	Slowly progressive	0	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type	.	53
HP:0003677	HP:0003677	Slowly progressive	0	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis	.	112
HP:0003677	HP:0003677	Slowly progressive	0	CLN8 CL E G H	2055	2079	OMIM:610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	.	111
HP:0003677	HP:0003677	Slowly progressive	0	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	.
HP:0003677	HP:0003677	Slowly progressive	0	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.	442
HP:0003677	HP:0003677	Slowly progressive	0	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.	478
HP:0003677	HP:0003677	Slowly progressive	0	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.	702
HP:0003677	HP:0003677	Slowly progressive	0	COX6A1 CL E G H	1337	2277	OMIM:616039	Charcot-Marie-Tooth disease, recessive intermediate D	.	4
HP:0003677	HP:0003677	Slowly progressive	0	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant	.	1
HP:0003677	HP:0003677	Slowly progressive	0	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	.
HP:0003677	HP:0003677	Slowly progressive	0	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.	46
HP:0003677	HP:0003677	Slowly progressive	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17	.	9
HP:0003677	HP:0003677	Slowly progressive	0	DAB1 CL E G H	1600	2661	OMIM:615945	Spinocerebellar ataxia 37	.	4
HP:0003677	HP:0003677	Slowly progressive	0	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation	.	60
HP:0003677	HP:0003677	Slowly progressive	0	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB	.	86
HP:0003677	HP:0003677	Slowly progressive	0	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive	.	35
HP:0003677	HP:0003677	Slowly progressive	0	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.	41
HP:0003677	HP:0003677	Slowly progressive	0	DNAJB2 CL E G H	3300	5228	OMIM:614881	Spinal muscular atrophy, distal, autosomal recessive, 5	.	30
HP:0003677	HP:0003677	Slowly progressive	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E	.	103
HP:0003677	HP:0003677	Slowly progressive	0	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset	.	6
HP:0003677	HP:0003677	Slowly progressive	0	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5	.	94
HP:0003677	HP:0003677	Slowly progressive	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant	.	167
HP:0003677	HP:0003677	Slowly progressive	0	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates	.	38
HP:0003677	HP:0003677	Slowly progressive	0	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O	.	427
HP:0003677	HP:0003677	Slowly progressive	0	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	.	427
HP:0003677	HP:0003677	Slowly progressive	0	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B	.	600
HP:0003677	HP:0003677	Slowly progressive	0	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5	.	4
HP:0003677	HP:0003677	Slowly progressive	0	EEF2 CL E G H	1938	3214	OMIM:609306	Spinocerebellar ataxia 26	.	4
HP:0003677	HP:0003677	Slowly progressive	0	ELOVL5 CL E G H	60481	21308	OMIM:615957	Spinocerebellar ataxia 38	.	4
HP:0003677	HP:0003677	Slowly progressive	0	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked	.	107
HP:0003677	HP:0003677	Slowly progressive	0	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.	18
HP:0003677	HP:0003677	Slowly progressive	0	FARS2 CL E G H	10667	21062	OMIM:617046	Spastic paraplegia 77, autosomal recessive	.	36
HP:0003677	HP:0003677	Slowly progressive	0	FAT2 CL E G H	2196	3596	OMIM:617769	Spinocerebellar ataxia 45	.	2
HP:0003677	HP:0003677	Slowly progressive	0	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID	.	1
HP:0003677	HP:0003677	Slowly progressive	0	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset	.	36
HP:0003677	HP:0003677	Slowly progressive	0	FLNC CL E G H	2318	3756	OMIM:609524	Filaminopathy, autosomal dominant	.	197
HP:0003677	HP:0003677	Slowly progressive	0	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4	.	197
HP:0003677	HP:0003677	Slowly progressive	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0003677	HP:0003677	Slowly progressive	0	FN1 CL E G H	2335	3778	OMIM:601894	Glomerulopathy with fibronectin deposits 2	.	9
HP:0003677	HP:0003677	Slowly progressive	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.	1
HP:0003677	HP:0003677	Slowly progressive	0	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1	.	109
HP:0003677	HP:0003677	Slowly progressive	0	FZD6 CL E G H	8323	4044	OMIM:161050	Nail disorder, nonsyndromic congenital, 1	.	3
HP:0003677	HP:0003677	Slowly progressive	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.	121
HP:0003677	HP:0003677	Slowly progressive	0	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D	.
HP:0003677	HP:0003677	Slowly progressive	0	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA	.
HP:0003677	HP:0003677	Slowly progressive	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form	.	86
HP:0003677	HP:0003677	Slowly progressive	0	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27	.
HP:0003677	HP:0003677	Slowly progressive	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	.	107
HP:0003677	HP:0003677	Slowly progressive	0	GNB4 CL E G H	59345	20731	OMIM:615185	Charcot-Marie-Tooth disease, dominant intermediate F	.	12
HP:0003677	HP:0003677	Slowly progressive	0	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44		8
HP:0003677	HP:0003677	Slowly progressive	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0003677	HP:0003677	Slowly progressive	0	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2	.	18
HP:0003677	HP:0003677	Slowly progressive	0	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A	.	82
HP:0003677	HP:0003677	Slowly progressive	0	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.	5
HP:0003677	HP:0003677	Slowly progressive	0	HPCA CL E G H	3208	5144	OMIM:224500	Dystonia 2, torsion, autosomal recessive	.	4
HP:0003677	HP:0003677	Slowly progressive	0	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB	.	47
HP:0003677	HP:0003677	Slowly progressive	0	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC	.	13
HP:0003677	HP:0003677	Slowly progressive	0	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive	.	16
HP:0003677	HP:0003677	Slowly progressive	0	IGHMBP2 CL E G H	3508	5542	OMIM:616155	Charcot-Marie-Tooth disease, axonal, type 2S	.	209
HP:0003677	HP:0003677	Slowly progressive	0	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15	.	177
HP:0003677	HP:0003677	Slowly progressive	0	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6	.	80
HP:0003677	HP:0003677	Slowly progressive	0	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13	.	17
HP:0003677	HP:0003677	Slowly progressive	0	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19	.	35
HP:0003677	HP:0003677	Slowly progressive	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	276
HP:0003677	HP:0003677	Slowly progressive	0	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive	.	276
HP:0003677	HP:0003677	Slowly progressive	0	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1	.	202
HP:0003677	HP:0003677	Slowly progressive	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0003677	HP:0003677	Slowly progressive	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0003677	HP:0003677	Slowly progressive	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.	645
HP:0003677	HP:0003677	Slowly progressive	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1	.
HP:0003677	HP:0003677	Slowly progressive	0	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1	.	125
HP:0003677	HP:0003677	Slowly progressive	0	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant	.	221
HP:0003677	HP:0003677	Slowly progressive	0	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P		102
HP:0003677	HP:0003677	Slowly progressive	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.	4
HP:0003677	HP:0003677	Slowly progressive	0	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion	.	2
HP:0003677	HP:0003677	Slowly progressive	0	MARS1 CL E G H	4141	6898	OMIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U	.
HP:0003677	HP:0003677	Slowly progressive	0	MCM2 CL E G H	4171	6944	OMIM:616968	Deafness, autosomal dominant 70	.	1
HP:0003677	HP:0003677	Slowly progressive	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	.	3
HP:0003677	HP:0003677	Slowly progressive	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13	.	950
HP:0003677	HP:0003677	Slowly progressive	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	.	203
HP:0003677	HP:0003677	Slowly progressive	0	MME CL E G H	4311	7154	OMIM:617017	Charcot-Marie-Tooth disease, axonal, type 2T	.	18
HP:0003677	HP:0003677	Slowly progressive	0	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43		18
HP:0003677	HP:0003677	Slowly progressive	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z	.	8
HP:0003677	HP:0003677	Slowly progressive	0	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	.	134
HP:0003677	HP:0003677	Slowly progressive	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	134
HP:0003677	HP:0003677	Slowly progressive	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant	.	7
HP:0003677	HP:0003677	Slowly progressive	0	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive	.	19
HP:0003677	HP:0003677	Slowly progressive	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269
HP:0003677	HP:0003677	Slowly progressive	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage	.	1269
HP:0003677	HP:0003677	Slowly progressive	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive	.	1269
HP:0003677	HP:0003677	Slowly progressive	0	MYH7 CL E G H	4625	7577	OMIM:181430	Scapuloperoneal myopathy, myh7-related	.	1269
HP:0003677	HP:0003677	Slowly progressive	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0003677	HP:0003677	Slowly progressive	0	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body	.	75
HP:0003677	HP:0003677	Slowly progressive	0	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY	.	75
HP:0003677	HP:0003677	Slowly progressive	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive	.	217
HP:0003677	HP:0003677	Slowly progressive	0	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28	.	3
HP:0003677	HP:0003677	Slowly progressive	0	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G	.	118
HP:0003677	HP:0003677	Slowly progressive	0	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation	.	217
HP:0003677	HP:0003677	Slowly progressive	0	NOL3 CL E G H	8996	7869	OMIM:614937	Myoclonus, familial cortical	.	1
HP:0003677	HP:0003677	Slowly progressive	0	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2	.	19
HP:0003677	HP:0003677	Slowly progressive	0	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	.	55
HP:0003677	HP:0003677	Slowly progressive	0	PARK7 CL E G H	11315	16369	OMIM:606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7		23
HP:0003677	HP:0003677	Slowly progressive	0	PDE8B CL E G H	8622	8794	OMIM:609161	Striatal degeneration, autosomal dominant	.	75
HP:0003677	HP:0003677	Slowly progressive	0	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6	.	4
HP:0003677	HP:0003677	Slowly progressive	0	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23	.	52
HP:0003677	HP:0003677	Slowly progressive	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B	.	75
HP:0003677	HP:0003677	Slowly progressive	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.	82
HP:0003677	HP:0003677	Slowly progressive	0	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset	.	55
HP:0003677	HP:0003677	Slowly progressive	0	PLD3 CL E G H	23646	17158	OMIM:617770	Spinocerebellar ataxia 46	.	2
HP:0003677	HP:0003677	Slowly progressive	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0003677	HP:0003677	Slowly progressive	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G	.	1
HP:0003677	HP:0003677	Slowly progressive	0	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.	79
HP:0003677	HP:0003677	Slowly progressive	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	79
HP:0003677	HP:0003677	Slowly progressive	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	.	65
HP:0003677	HP:0003677	Slowly progressive	0	POGLUT1 CL E G H	56983	22954	OMIM:617232	Muscular dystrophy, limb-girdle, type 2Z	.	6
HP:0003677	HP:0003677	Slowly progressive	0	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	.	213
HP:0003677	HP:0003677	Slowly progressive	0	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14	.	83
HP:0003677	HP:0003677	Slowly progressive	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F	.	170
HP:0003677	HP:0003677	Slowly progressive	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0003677	HP:0003677	Slowly progressive	0	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive	.	3
HP:0003677	HP:0003677	Slowly progressive	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	54
HP:0003677	HP:0003677	Slowly progressive	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	.
HP:0003677	HP:0003677	Slowly progressive	0	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly	.	37
HP:0003677	HP:0003677	Slowly progressive	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease	.	1200
HP:0003677	HP:0003677	Slowly progressive	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	318
HP:0003677	HP:0003677	Slowly progressive	0	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile	.	162
HP:0003677	HP:0003677	Slowly progressive	0	SIGMAR1 CL E G H	10280	8157	OMIM:614373	Amyotrophic lateral sclerosis 16, juvenile	.	6
HP:0003677	HP:0003677	Slowly progressive	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)	.	68
HP:0003677	HP:0003677	Slowly progressive	0	SLC34A2 CL E G H	10568	11020	OMIM:265100	Pulmonary alveolar microlithiasis	.	7
HP:0003677	HP:0003677	Slowly progressive	0	SLC5A7 CL E G H	60482	14025	OMIM:158580	Neuronopathy, distal hereditary motor, type VIIA	.	9
HP:0003677	HP:0003677	Slowly progressive	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV	.	22
HP:0003677	HP:0003677	Slowly progressive	0	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile	.	287
HP:0003677	HP:0003677	Slowly progressive	0	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X	.	287
HP:0003677	HP:0003677	Slowly progressive	0	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	.	28
HP:0003677	HP:0003677	Slowly progressive	0	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5	.	126
HP:0003677	HP:0003677	Slowly progressive	0	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14	.	126
HP:0003677	HP:0003677	Slowly progressive	0	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1	.	31
HP:0003677	HP:0003677	Slowly progressive	0	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K	.	73
HP:0003677	HP:0003677	Slowly progressive	0	SYNE1 CL E G H	23345	17089	OMIM:610743	Spinocerebellar ataxia, autosomal recessive 8	.	1129
HP:0003677	HP:0003677	Slowly progressive	0	SYT14 CL E G H	255928	23143	OMIM:614229	Spinocerebellar ataxia, autosomal recessive 11	.	4
HP:0003677	HP:0003677	Slowly progressive	0	TBC1D24 CL E G H	57465	29203	OMIM:616044	Deafness, autosomal dominant 65	.	271
HP:0003677	HP:0003677	Slowly progressive	0	TEAD1 CL E G H	7003	11714	OMIM:108985	Sveinsson chorioretinal atrophy	.	1
HP:0003677	HP:0003677	Slowly progressive	0	TENM4 CL E G H	26011	29945	OMIM:616736	Tremor, hereditary essential, 5	.	5
HP:0003677	HP:0003677	Slowly progressive	0	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type	.	18
HP:0003677	HP:0003677	Slowly progressive	0	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35	.	58
HP:0003677	HP:0003677	Slowly progressive	0	TIA1 CL E G H	7072	11802	OMIM:604454	Welander distal myopathy	.	5
HP:0003677	HP:0003677	Slowly progressive	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21	.	9
HP:0003677	HP:0003677	Slowly progressive	0	TMEM43 CL E G H	79188	28472	OMIM:614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	.	171
HP:0003677	HP:0003677	Slowly progressive	0	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y	.	10
HP:0003677	HP:0003677	Slowly progressive	0	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7	.	203
HP:0003677	HP:0003677	Slowly progressive	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0003677	HP:0003677	Slowly progressive	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0003677	HP:0003677	Slowly progressive	0	TTN CL E G H	7273	12403	OMIM:600334	Tibial muscular dystrophy, tardive	.	7128
HP:0003677	HP:0003677	Slowly progressive	0	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy	.	10
HP:0003677	HP:0003677	Slowly progressive	0	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22	.	1
HP:0003677	HP:0003677	Slowly progressive	0	WARS1 CL E G H	7453	12729	OMIM:617721	Neuronopathy, distal hereditary motor, type IX	.
HP:0003677	HP:0003677	Slowly progressive	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	199

Genes (164) :ABHD12 ACTA1 ACTN4 ADSS1 AFG3L2 AIFM1 ALDH18A1 ALG14 ALG2 ALS2 AP4B1 AR ATP1A1 ATP6AP2 ATP7A B4GALNT1 BSCL2 C19ORF12 CACNA1G CCDC88C CFL2 CHCHD10 CHKB CLCN5 CLN8 COA7 COL6A1 COL6A2 COL6A3 COX6A1 CPT1C CRPPA CRYAB CWF19L1 DAB1 DARS2 DCTN1 DDHD1 DNA2 DNAJB2 DNAJB6 DNAJC6 DNM1L DNM2 DPAGT1 DYNC1H1 DYSF DZIP1L EEF2 ELOVL5 EMD ERLIN2 FARS2 FAT2 FBXO38 FBXO7 FLNC FLVCR1 FN1 FRG1 FZD4 FZD6 GAN GARS1 GBE1 GDAP2 GJB1 GNB4 GRM1 GYG1 HEPACAM HNRNPDL HPCA HSPB1 HSPB3 IBA57 IGHMBP2 ITPR1 KBTBD13 KCNC3 KCND3 KIF1A KIF1B KY LAMA2 LMNA LRP12 LRP5 LRRK2 LRSAM1 MAG MAP3K20 MARS1 MCM2 MCM3AP MECP2 MFN2 MME MORC2 MPZ MTMR14 MTPAP MYH7 MYMK MYOT MYPN NDUFA13 NEFL NLRP3 NOL3 ORAI1 PANK2 PARK7 PDE8B PDK3 PDYN PEX10 PEX2 PINK1 PLD3 PLP1 PMP2 PMP22 PNPLA2 POGLUT1 POMT1 PRKCG PRX PYROXD1 REEP2 RETREG1 RFC1 RNASET2 RYR1 SCN9A SETX SIGMAR1 SLC25A4 SLC34A2 SLC5A7 SMN1 SPG11 SPG21 SPTBN2 STIM1 SURF1 SYNE1 SYT14 TBC1D24 TEAD1 TENM4 TFG TGM6 TIA1 TMEM240 TMEM43 TOR1AIP1 TPP1 TRIM32 TTN VMA21 VWA3B WARS1 WNK1

Diseases (173) :OMIM:612674 OMIM:616852 OMIM:603278 OMIM:617030 OMIM:610246 OMIM:300614 OMIM:601162 OMIM:616227 OMIM:616228 OMIM:606353 OMIM:607225 OMIM:614066 OMIM:313200 OMIM:618036 OMIM:300911 OMIM:300489 OMIM:609195 OMIM:270685 OMIM:615043 OMIM:616795 OMIM:616053 OMIM:610687 OMIM:616209 OMIM:615048 OMIM:602541 OMIM:308990 OMIM:610003 OMIM:618387 OMIM:158810 OMIM:616039 OMIM:616282 OMIM:616052 OMIM:608810 OMIM:616127 OMIM:615945 OMIM:611105 OMIM:607641 OMIM:609340 OMIM:615156 OMIM:614881 OMIM:603511 OMIM:615528 OMIM:610708 OMIM:160150 OMIM:614750 OMIM:614228 OMIM:158600 OMIM:253601 OMIM:617610 OMIM:609306 OMIM:615957 OMIM:310300 OMIM:611225 OMIM:617046 OMIM:617769 OMIM:615575 OMIM:260300 OMIM:609524 OMIM:614065 OMIM:609033 OMIM:601894 OMIM:158900 OMIM:133780 OMIM:161050 OMIM:256850 OMIM:601472 OMIM:600794 OMIM:263570 OMIM:618369 OMIM:302800 OMIM:615185 OMIM:617691 OMIM:614831 OMIM:616199 OMIM:613925 OMIM:609115 OMIM:224500 OMIM:608634 OMIM:613376 OMIM:616451 OMIM:616155 OMIM:606658 OMIM:609273 OMIM:605259 OMIM:607346 OMIM:201300 OMIM:610357 OMIM:118210 OMIM:617114 OMIM:618138 OMIM:181350 OMIM:164310 OMIM:607060 OMIM:614436 OMIM:616680 OMIM:617760 OMIM:616280 OMIM:616968 OMIM:618124 OMIM:300055 OMIM:609260 OMIM:617017 OMIM:617018 OMIM:616688 OMIM:118200 OMIM:180800 OMIM:613672 OMIM:160500 OMIM:608358 OMIM:255160 OMIM:181430 OMIM:254940 OMIM:182920 OMIM:609200 OMIM:617336 OMIM:618249 OMIM:617882 OMIM:617772 OMIM:614937 OMIM:615883 OMIM:607236 OMIM:606324 OMIM:609161 OMIM:300905 OMIM:610245 OMIM:614871 OMIM:614867 OMIM:605909 OMIM:617770 OMIM:312080 OMIM:618279 OMIM:118220 OMIM:610717 OMIM:617232 OMIM:609308 OMIM:605361 OMIM:614895 OMIM:617258 OMIM:615625 OMIM:614575 OMIM:612951 OMIM:117000 OMIM:602433 OMIM:614373 OMIM:615418 OMIM:265100 OMIM:158580 OMIM:271150 OMIM:602099 OMIM:616668 OMIM:248900 OMIM:600224 OMIM:615386 OMIM:160565 OMIM:616684 OMIM:610743 OMIM:614229 OMIM:616044 OMIM:108985 OMIM:616736 OMIM:604484 OMIM:613908 OMIM:604454 OMIM:607454 OMIM:614302 OMIM:617072 OMIM:609270 OMIM:254110 OMIM:603689 OMIM:600334 OMIM:310440 OMIM:616948 OMIM:617721

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

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