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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0003677	HP:0003677	Slowly progressive	0	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	430	15868	613599
HP:0003677	HP:0003677	Slowly progressive	0	ACTA1 CL E G H	58	616852	Myopathy, scapulohumeroperoneal	616852	C4225181	OMIM	1	392	129	102610
HP:0003677	HP:0003677	Slowly progressive	0	ACTN4 CL E G H	81	603278	Focal segmental glomerulosclerosis 1	603278	C0333497	OMIM	1	235	166	604638
HP:0003677	HP:0003677	Slowly progressive	0	ADSSL1 CL E G H	122622	617030	Myopathy, distal, 5	617030	C4310754	OMIM	1		20093	612498
HP:0003677	HP:0003677	Slowly progressive	0	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0003677	HP:0003677	Slowly progressive	0	ALDH18A1 CL E G H	5832	601162	Spastic paraplegia 9	601162	C1832669	OMIM	1	437	9722	138250
HP:0003677	HP:0003677	Slowly progressive	0	ALG14 CL E G H	199857	616227	Myasthenic syndrome, congenital, 15	616227	C4015596	OMIM	1	104	28287	612866
HP:0003677	HP:0003677	Slowly progressive	0	ALG2 CL E G H	85365	616228	Myasthenic syndrome, congenital, 14	616228	C4015597	OMIM	1	262	23159	607905
HP:0003677	HP:0003677	Slowly progressive	0	ALS2 CL E G H	57679	205100	Amyotrophic lateral sclerosis type 2	205100	C1859807	OMIM	1	754	443	606352
HP:0003677	HP:0003677	Slowly progressive	0	ALS2 CL E G H	57679	607225	Infantile-onset ascending hereditary spastic paralysis	607225	C2931441	OMIM	1	754	443	606352
HP:0003677	HP:0003677	Slowly progressive	0	ALS2 CL E G H	57679	606353	Juvenile primary lateral sclerosis	606353	C1853396	OMIM	1	754	443	606352
HP:0003677	HP:0003677	Slowly progressive	0	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1	300	572	607245
HP:0003677	HP:0003677	Slowly progressive	0	AR CL E G H	367	313200	Bulbo-spinal atrophy X-linked	313200	C1839259	OMIM	1	556	644	313700
HP:0003677	HP:0003677	Slowly progressive	0	ATP1A1 CL E G H	476	618036	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD	618036	CN248781	OMIM	1	272	799	182310
HP:0003677	HP:0003677	Slowly progressive	0	ATP6AP2 CL E G H	10159	300911	Parkinsonism with spasticity, X-linked	300911	C3806722	OMIM	1	303	18305	300556
HP:0003677	HP:0003677	Slowly progressive	0	ATP7A CL E G H	538	300489	Distal spinal muscular atrophy, X-linked 3	300489	C1845359	OMIM	1	1283	869	300011
HP:0003677	HP:0003677	Slowly progressive	0	B4GALNT1 CL E G H	2583	609195	Spastic paraplegia 26	609195	C1836632	OMIM	1	192	4117	601873
HP:0003677	HP:0003677	Slowly progressive	0	BSCL2 CL E G H	26580	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1	435	15832	606158
HP:0003677	HP:0003677	Slowly progressive	0	BSCL2 CL E G H	26580	270685	Spastic paraplegia 17	270685	CN074197	OMIM	1	435	15832	606158
HP:0003677	HP:0003677	Slowly progressive	0	C19orf12 CL E G H	83636	615043	Spastic paraplegia 43, autosomal recessive	615043	C2680446	OMIM	1	276	25443	614297
HP:0003677	HP:0003677	Slowly progressive	0	CACNA1G CL E G H	8913	616795	Spinocerebellar ataxia 42	616795	C4225205	OMIM	1	445	1394	604065
HP:0003677	HP:0003677	Slowly progressive	0	CCDC88C CL E G H	440193	616053	Spinocerebellar ataxia 40	616053	CN252333	OMIM	1	279	19967	611204
HP:0003677	HP:0003677	Slowly progressive	0	CFL2 CL E G H	1073	610687	Nemaline myopathy 7	610687	C1853154	OMIM	1	147	1875	601443
HP:0003677	HP:0003677	Slowly progressive	0	CHCHD10 CL E G H	400916	616209	Myopathy, isolated mitochondrial, autosomal dominant	616209	C4015513	OMIM	1	248	15559	615903
HP:0003677	HP:0003677	Slowly progressive	0	CHCHD10 CL E G H	400916	615048	Spinal muscular atrophy, jokela type	615048	C3554398	OMIM	1	248	15559	615903
HP:0003677	HP:0003677	Slowly progressive	0	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	419	1938	612395
HP:0003677	HP:0003677	Slowly progressive	0	CLCN5 CL E G H	1184	308990	Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis	308990	C1839874	OMIM	1	435	2023	300008
HP:0003677	HP:0003677	Slowly progressive	0	CLN8 CL E G H	2055	610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	610003	C1864923	OMIM	1	541	2079	607837
HP:0003677	HP:0003677	Slowly progressive	0	COL6A1 CL E G H	1291	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1470	2211	120220
HP:0003677	HP:0003677	Slowly progressive	0	COL6A2 CL E G H	1292	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1644	2212	120240
HP:0003677	HP:0003677	Slowly progressive	0	COL6A3 CL E G H	1293	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	2414	2213	120250
HP:0003677	HP:0003677	Slowly progressive	0	COX6A1 CL E G H	1337	616039	Charcot-Marie-Tooth disease, recessive intermediate d	616039	C4015029	OMIM	1	74	2277	602072
HP:0003677	HP:0003677	Slowly progressive	0	CPT1C CL E G H	126129	616282	Spastic paraplegia 73, autosomal dominant	616282	C4225387	OMIM	1	133	18540	608846
HP:0003677	HP:0003677	Slowly progressive	0	CRYAB CL E G H	1410	608810	Alpha-B crystallinopathy	608810	C1837317	OMIM	1	230	2389	123590
HP:0003677	HP:0003677	Slowly progressive	0	CWF19L1 CL E G H	55280	616127	Spinocerebellar ataxia, autosomal recessive 17	616127	C4015301	OMIM	1	66	25613	616120
HP:0003677	HP:0003677	Slowly progressive	0	DAB1 CL E G H	1600	615945	Spinocerebellar ataxia 37	615945	C3889636	OMIM	1	82	2661	603448
HP:0003677	HP:0003677	Slowly progressive	0	DARS2 CL E G H	55157	611105	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	611105	C1970180	OMIM	1	294	25538	610956
HP:0003677	HP:0003677	Slowly progressive	0	DCTN1 CL E G H	1639	607641	Distal hereditary motor neuronopathy type 7B	607641	C1843315	OMIM	1	858	2711	601143
HP:0003677	HP:0003677	Slowly progressive	0	DDHD1 CL E G H	80821	609340	Spastic paraplegia 28, autosomal recessive	609340	C1836295	OMIM	1	302	19714	614603
HP:0003677	HP:0003677	Slowly progressive	0	DNA2 CL E G H	1763	615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	615156	C3554599	OMIM	1	331	2939	601810
HP:0003677	HP:0003677	Slowly progressive	0	DNAJB2 CL E G H	3300	614881	Spinal muscular atrophy, distal, autosomal recessive, 5	614881	C3553989	OMIM	1	253	5228	604139
HP:0003677	HP:0003677	Slowly progressive	0	DNAJB6 CL E G H	10049	603511	Limb-girdle muscular dystrophy, type 1E	603511	C3148763	OMIM	1	411	14888	611332
HP:0003677	HP:0003677	Slowly progressive	0	DNAJC6 CL E G H	9829	615528	Parkinson disease 19a, juvenile-onset	615528	C3809811	OMIM	1	235	15469	608375
HP:0003677	HP:0003677	Slowly progressive	0	DNM1L CL E G H	10059	610708	Optic atrophy 5	610708	C1853139	OMIM	1	445	2973	603850
HP:0003677	HP:0003677	Slowly progressive	0	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	885	2974	602378
HP:0003677	HP:0003677	Slowly progressive	0	DPAGT1 CL E G H	1798	614750	Congenital myasthenic syndrome 13	614750	C3553645	OMIM	1	258	2995	191350
HP:0003677	HP:0003677	Slowly progressive	0	DYNC1H1 CL E G H	1778	614228	Charcot-Marie-Tooth disease, axonal, type 2O	614228	C3280220	OMIM	1	2974	2961	600112
HP:0003677	HP:0003677	Slowly progressive	0	DYNC1H1 CL E G H	1778	158600	Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant	158600	C1834690	OMIM	1	2974	2961	600112
HP:0003677	HP:0003677	Slowly progressive	0	DYSF CL E G H	8291	253601	Limb-girdle muscular dystrophy, type 2B	253601	C1850889	OMIM	1	2736	3097	603009
HP:0003677	HP:0003677	Slowly progressive	0	DZIP1L CL E G H	199221	617610	POLYCYSTIC KIDNEY DISEASE 5	617610	C4539903	OMIM	1	90	26551	617570
HP:0003677	HP:0003677	Slowly progressive	0	EEF2 CL E G H	1938	609306	Spinocerebellar ataxia 26	609306	C1836395	OMIM	1	204	3214	130610
HP:0003677	HP:0003677	Slowly progressive	0	ELOVL5 CL E G H	60481	615957	Spinocerebellar ataxia 38	615957	C4014812	OMIM	1	63	21308	611805
HP:0003677	HP:0003677	Slowly progressive	0	EMD CL E G H	2010	310300	Emery-Dreifuss muscular dystrophy 1, X-linked	310300	C0751337	OMIM	1	618	3331	300384
HP:0003677	HP:0003677	Slowly progressive	0	ERLIN2 CL E G H	11160	611225	Spastic paraplegia 18	611225	C2749936	OMIM	1	159	1356	611605
HP:0003677	HP:0003677	Slowly progressive	0	FARS2 CL E G H	10667	617046	Spastic paraplegia 77, autosomal recessive	617046	C4310750	OMIM	1	479	21062	611592
HP:0003677	HP:0003677	Slowly progressive	0	FAT2 CL E G H	2196	617769	SPINOCEREBELLAR ATAXIA 45	617769	C4540400	OMIM	1	188	3596	604269
HP:0003677	HP:0003677	Slowly progressive	0	FBXO38 CL E G H	81545	615575	Distal hereditary motor neuronopathy 2D	615575	C3711384	OMIM	1	461	28844	608533
HP:0003677	HP:0003677	Slowly progressive	0	FBXO7 CL E G H	25793	260300	Parkinson disease 15	260300	C1850100	OMIM	1	191	13586	605648
HP:0003677	HP:0003677	Slowly progressive	0	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	1	208	3671	601515
HP:0003677	HP:0003677	Slowly progressive	0	FLNC CL E G H	2318	609524	Myofibrillar myopathy, filamin C-related	609524	C1836050	OMIM	1	3455	3756	102565
HP:0003677	HP:0003677	Slowly progressive	0	FLNC CL E G H	2318	614065	Myopathy, distal, 4	614065	C3279722	OMIM	1	3455	3756	102565
HP:0003677	HP:0003677	Slowly progressive	0	FLVCR1 CL E G H	28982	609033	Posterior column ataxia with retinitis pigmentosa	609033	C1836916	OMIM	1	448	24682	609144
HP:0003677	HP:0003677	Slowly progressive	0	FN1 CL E G H	2335	601894	Glomerulopathy with fibronectin deposits 2	601894	C1866075	OMIM	1	759	3778	135600
HP:0003677	HP:0003677	Slowly progressive	0	FRG1 CL E G H	2483	158900	Facioscapulohumeral muscular dystrophy	158900	C0238288	OMIM	1	126	3954	601278
HP:0003677	HP:0003677	Slowly progressive	0	FZD4 CL E G H	8322	133780	Exudative vitreoretinopathy 1	133780	C1851402	OMIM	1	360	4042	604579
HP:0003677	HP:0003677	Slowly progressive	0	GAN CL E G H	8139	256850	Giant axonal neuropathy	256850	C1850386	OMIM	1	661	4137	605379
HP:0003677	HP:0003677	Slowly progressive	0	GARS CL E G H	2617	601472	Charcot-Marie-Tooth disease type 2D	601472	C1832274	OMIM	1		4162	600287
HP:0003677	HP:0003677	Slowly progressive	0	GARS CL E G H	2617	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	1		4162	600287
HP:0003677	HP:0003677	Slowly progressive	0	GBA2 CL E G H	57704	614409	Spastic paraplegia 46, autosomal recessive	614409	C2828721	OMIM	1	277	18986	609471
HP:0003677	HP:0003677	Slowly progressive	0	GBE1 CL E G H	2632	263570	Polyglucosan body disease, adult	263570	C1849722	OMIM	1	600	4180	607839
HP:0003677	HP:0003677	Slowly progressive	0	GJB1 CL E G H	2705	302800	X-linked hereditary motor and sensory neuropathy	302800	C0393808	OMIM	1	797	4283	304040
HP:0003677	HP:0003677	Slowly progressive	0	GNB4 CL E G H	59345	615185	Charcot-Marie-Tooth disease, dominant intermediate F	615185	C3554654	OMIM	1	221	20731	610863
HP:0003677	HP:0003677	Slowly progressive	0	GRM1 CL E G H	2911	617691	SPINOCEREBELLAR ATAXIA 44	617691	C4521563	OMIM	1	216	4593	604473
HP:0003677	HP:0003677	Slowly progressive	0	GRM1 CL E G H	2911	614831	Spinocerebellar ataxia, autosomal recessive 13	614831	C3553816	OMIM	1	216	4593	604473
HP:0003677	HP:0003677	Slowly progressive	0	GYG1 CL E G H	2992	616199	Polyglucosan body myopathy 2	616199	C4015452	OMIM	1	195	4699	603942
HP:0003677	HP:0003677	Slowly progressive	0	HEPACAM CL E G H	220296	613925	Megalencephalic leukoencephalopathy with subcortical cysts 2a	613925	C3151355	OMIM	1	247	26361	611642
HP:0003677	HP:0003677	Slowly progressive	0	HNRNPDL CL E G H	9987	609115	Limb-girdle muscular dystrophy, type 1G	609115	C1836765	OMIM	1	248	5037	607137
HP:0003677	HP:0003677	Slowly progressive	0	HPCA CL E G H	3208	224500	Dystonia 2, torsion, autosomal recessive	224500	C1857093	OMIM	1	31	5144	142622
HP:0003677	HP:0003677	Slowly progressive	0	HSPB1 CL E G H	3315	608634	Distal hereditary motor neuronopathy type 2B	608634	C2608087	OMIM	1	329	5246	602195
HP:0003677	HP:0003677	Slowly progressive	0	HSPB3 CL E G H	8988	613376	Distal hereditary motor neuronopathy type 2C	613376	C3150619	OMIM	1	67	5248	604624
HP:0003677	HP:0003677	Slowly progressive	0	IBA57 CL E G H	200205	616451	Spastic paraplegia 74, autosomal recessive	616451	C4225322	OMIM	1	178	27302	615316
HP:0003677	HP:0003677	Slowly progressive	0	IGHMBP2 CL E G H	3508	616155	Charcot-Marie-Tooth disease, axonal, type 2S	616155	C4015349	OMIM	1	996	5542	600502
HP:0003677	HP:0003677	Slowly progressive	0	ISPD CL E G H	729920	616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7	616052	C4015095	OMIM	1	647	37276	614631
HP:0003677	HP:0003677	Slowly progressive	0	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	1134	6180	147265
HP:0003677	HP:0003677	Slowly progressive	0	KBTBD13 CL E G H	390594	609273	Nemaline myopathy 6	609273	C1836472	OMIM	1	431	37227	613727
HP:0003677	HP:0003677	Slowly progressive	0	KCNC3 CL E G H	3748	605259	Spinocerebellar ataxia 13	605259	C1854488	OMIM	1	216	6235	176264
HP:0003677	HP:0003677	Slowly progressive	0	KCND3 CL E G H	3752	607346	Spinocerebellar ataxia 19	607346	C1846367	OMIM	1	399	6239	605411
HP:0003677	HP:0003677	Slowly progressive	0	KIF1A CL E G H	547	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	2132	888	601255
HP:0003677	HP:0003677	Slowly progressive	0	KIF1A CL E G H	547	610357	Spastic paraplegia 30, autosomal recessive	610357	C1835896	OMIM	1	2132	888	601255
HP:0003677	HP:0003677	Slowly progressive	0	KIF1B CL E G H	23095	118210	Charcot-Marie-Tooth disease, type 2A1	118210	C1861678	OMIM	1	2041	16636	605995
HP:0003677	HP:0003677	Slowly progressive	0	KY CL E G H	339855	617114	Myopathy, myofibrillar, 7	617114	C4310711	OMIM	1	87	26576	605739
HP:0003677	HP:0003677	Slowly progressive	0	LAMA2 CL E G H	3908	618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23	618138		OMIM	1	3283	6482	156225
HP:0003677	HP:0003677	Slowly progressive	0	LMNA CL E G H	4000	181350	Benign scapuloperoneal muscular dystrophy with cardiomyopathy	181350	C0410190	OMIM	1	1622	6636	150330
HP:0003677	HP:0003677	Slowly progressive	0	LRP5 CL E G H	4041	133780	Exudative vitreoretinopathy 1	133780	C1851402	OMIM	1	1354	6697	603506
HP:0003677	HP:0003677	Slowly progressive	0	LRSAM1 CL E G H	90678	614436	Charcot-Marie-Tooth disease type 2P	614436	C3280797	OMIM	1	707	25135	610933
HP:0003677	HP:0003677	Slowly progressive	0	MAG CL E G H	4099	616680	Spastic paraplegia 75, autosomal recessive	616680	C4225250	OMIM	1	171	6783	159460
HP:0003677	HP:0003677	Slowly progressive	0	MAP3K20 CL E G H	51776	617760	MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION	617760	C4540345	OMIM	1	243	17797	609479
HP:0003677	HP:0003677	Slowly progressive	0	MARS CL E G H	4141	616280	Charcot-Marie-Tooth disease, axonal, type 2u	616280	C4084821	OMIM	1		6898	156560
HP:0003677	HP:0003677	Slowly progressive	0	MCM2 CL E G H	4171	616968	Deafness, autosomal dominant 70	616968	C4310775	OMIM	1	145	6944	116945
HP:0003677	HP:0003677	Slowly progressive	0	MCM3AP CL E G H	8888	618124	PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	618124	CN253838	OMIM	1	721	6946	603294
HP:0003677	HP:0003677	Slowly progressive	0	MECP2 CL E G H	4204	300055	Mental retardation, X-linked, syndromic 13	300055	C1968550	OMIM	1	1778	6990	300005
HP:0003677	HP:0003677	Slowly progressive	0	MFN2 CL E G H	9927	609260	Charcot-Marie-Tooth disease, type 2A2A	609260	C1836485	OMIM	1	1063	16877	608507
HP:0003677	HP:0003677	Slowly progressive	0	MME CL E G H	4311	617017	Charcot-Marie-Tooth disease, axonal, type 2T	617017	C4015635	OMIM	1	422	7154	120520
HP:0003677	HP:0003677	Slowly progressive	0	MME CL E G H	4311	617018	Spinocerebellar ataxia 43	617018	C4310763	OMIM	1	422	7154	120520
HP:0003677	HP:0003677	Slowly progressive	0	MORC2 CL E G H	22880	616688	Charcot-Marie-Tooth disease, axonal, type 2z	616688	C4225243	OMIM	1	585	23573	616661
HP:0003677	HP:0003677	Slowly progressive	0	MPZ CL E G H	4359	118200	Charcot-Marie-Tooth disease, demyelinating, type 1b	118200	C0270912	OMIM	1	557	7225	159440
HP:0003677	HP:0003677	Slowly progressive	0	MPZ CL E G H	4359	180800	Roussy-Lévy syndrome	180800	C0205713	OMIM	1	557	7225	159440
HP:0003677	HP:0003677	Slowly progressive	0	MTPAP CL E G H	55149	613672	Ataxia, spastic, 4, autosomal recessive	613672	C3150925	OMIM	1	199	25532	613669
HP:0003677	HP:0003677	Slowly progressive	0	MYH7 CL E G H	4625	160500	Myopathy, distal, 1	160500	CN074249	OMIM	1	3612	7577	160760
HP:0003677	HP:0003677	Slowly progressive	0	MYH7 CL E G H	4625	255160	Myopathy, myosin storage, autosomal recessive	255160	C1850709	OMIM	1	3612	7577	160760
HP:0003677	HP:0003677	Slowly progressive	0	MYH7 CL E G H	4625	608358	Myosin storage myopathy	608358	C1842160	OMIM	1	3612	7577	160760
HP:0003677	HP:0003677	Slowly progressive	0	MYH7 CL E G H	4625	181430	Scapuloperoneal myopathy, MYH7-related	181430	CN074265	OMIM	1	3612	7577	160760
HP:0003677	HP:0003677	Slowly progressive	0	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	75	33778	615345
HP:0003677	HP:0003677	Slowly progressive	0	MYOT CL E G H	9499	609200	Myotilinopathy	609200	C1836607	OMIM	1	295	12399	604103
HP:0003677	HP:0003677	Slowly progressive	0	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	295	12399	604103
HP:0003677	HP:0003677	Slowly progressive	0	MYPN CL E G H	84665	617336	Nemaline myopathy 11, autosomal recessive	617336	C4479186	OMIM	1	1263	23246	608517
HP:0003677	HP:0003677	Slowly progressive	0	NDUFA13 CL E G H	51079	618249	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28	618249		OMIM	1	21	17194	609435
HP:0003677	HP:0003677	Slowly progressive	0	NEFL CL E G H	4747	617882	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G	617882	CN847583	OMIM	1	543	7739	162280
HP:0003677	HP:0003677	Slowly progressive	0	NLRP3 CL E G H	114548	617772	DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION	617772	C4521680	OMIM	1	752	16400	606416
HP:0003677	HP:0003677	Slowly progressive	0	NOL3 CL E G H	8996	614937	Myoclonus, familial cortical	614937	C3539916	OMIM	1	43	7869	605235
HP:0003677	HP:0003677	Slowly progressive	0	ORAI1 CL E G H	84876	615883	Myopathy, tubular aggregate, 2	615883	C4014557	OMIM	1	255	25896	610277
HP:0003677	HP:0003677	Slowly progressive	0	PANK2 CL E G H	80025	607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	607236	C1846582	OMIM	1	371	15894	606157
HP:0003677	HP:0003677	Slowly progressive	0	PARK7 CL E G H	11315	606324	Parkinson disease 7	606324	C1853445	OMIM	1	160	16369	602533
HP:0003677	HP:0003677	Slowly progressive	0	PDE8B CL E G H	8622	609161	Striatal degeneration, autosomal dominant 1	609161	C4310808	OMIM	1	179	8794	603390
HP:0003677	HP:0003677	Slowly progressive	0	PDK3 CL E G H	5165	300905	Charcot-Marie-Tooth disease, X-linked dominant, 6	300905	C3806702	OMIM	1	294	8811	300906
HP:0003677	HP:0003677	Slowly progressive	0	PDYN CL E G H	5173	610245	Spinocerebellar ataxia 23	610245	C1853250	OMIM	1	167	8820	131340
HP:0003677	HP:0003677	Slowly progressive	0	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	1	654	8851	602859
HP:0003677	HP:0003677	Slowly progressive	0	PEX2 CL E G H	5828	614867	Peroxisome biogenesis disorder 5B	614867	C3542026	OMIM	1	366	9717	170993
HP:0003677	HP:0003677	Slowly progressive	0	PINK1 CL E G H	65018	605909	Parkinson disease 6, autosomal recessive early-onset	605909	C1853833	OMIM	1	301	14581	608309
HP:0003677	HP:0003677	Slowly progressive	0	PLD3 CL E G H	23646	617770	SPINOCEREBELLAR ATAXIA 46	617770	C4540404	OMIM	1	22	17158	615698
HP:0003677	HP:0003677	Slowly progressive	0	PLP1 CL E G H	5354	312080	Pelizaeus-Merzbacher disease	312080	C0205711	OMIM	1	391	9086	300401
HP:0003677	HP:0003677	Slowly progressive	0	PMP2 CL E G H	5375	618279	618279	618279		OMIM	1	96	9117	170715
HP:0003677	HP:0003677	Slowly progressive	0	PMP22 CL E G H	5376	118220	Charcot-Marie-Tooth disease, type IA	118220	C0270911	OMIM	1	453	9118	601097
HP:0003677	HP:0003677	Slowly progressive	0	PMP22 CL E G H	5376	180800	Roussy-Lévy syndrome	180800	C0205713	OMIM	1	453	9118	601097
HP:0003677	HP:0003677	Slowly progressive	0	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	443	30802	609059
HP:0003677	HP:0003677	Slowly progressive	0	POGLUT1 CL E G H	56983	617232	Muscular dystrophy, limb-girdle, type 2z	617232	C4310660	OMIM	1	111	22954	615618
HP:0003677	HP:0003677	Slowly progressive	0	POMT1 CL E G H	10585	609308	Limb-girdle muscular dystrophy-dystroglycanopathy, type C1	609308	C1836373	OMIM	1	737	9202	607423
HP:0003677	HP:0003677	Slowly progressive	0	PRKCG CL E G H	5582	605361	Spinocerebellar ataxia 14	605361	C1854369	OMIM	1	290	9402	176980
HP:0003677	HP:0003677	Slowly progressive	0	PRX CL E G H	57716	614895	Charcot-Marie-Tooth disease, demyelinating, type 4f	614895	C3540453	OMIM	1	1079	13797	605725
HP:0003677	HP:0003677	Slowly progressive	0	PYROXD1 CL E G H	79912	617258	Myopathy, myofibrillar, 8	617258	C4310645	OMIM	1	443	26162	617220
HP:0003677	HP:0003677	Slowly progressive	0	REEP2 CL E G H	51308	615625	Spastic paraplegia 72, autosomal recessive	615625	C3810160	OMIM	1	76	17975	609347
HP:0003677	HP:0003677	Slowly progressive	0	RETREG1 CL E G H	54463	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	453	25964	613114
HP:0003677	HP:0003677	Slowly progressive	0	RNASET2 CL E G H	8635	612951	Leukoencephalopathy, cystic, without megalencephaly	612951	C2751843	OMIM	1	148	21686	612944
HP:0003677	HP:0003677	Slowly progressive	0	RYR1 CL E G H	6261	117000	117000	117000		OMIM	1	5062	10483	180901
HP:0003677	HP:0003677	Slowly progressive	0	SCN9A CL E G H	6335	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	1907	10597	603415
HP:0003677	HP:0003677	Slowly progressive	0	SETX CL E G H	23064	602433	Amyotrophic lateral sclerosis type 4	602433	C1865409	OMIM	1	1290	445	608465
HP:0003677	HP:0003677	Slowly progressive	0	SIGMAR1 CL E G H	10280	614373	Amyotrophic lateral sclerosis 16, juvenile	614373	C3280587	OMIM	1	206	8157	601978
HP:0003677	HP:0003677	Slowly progressive	0	SLC25A4 CL E G H	291	615418	Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive	615418	C3809443	OMIM	1	278	10990	103220
HP:0003677	HP:0003677	Slowly progressive	0	SLC34A2 CL E G H	10568	265100	PULMONARY ALVEOLAR MICROLITHIASIS	265100	C0155912	OMIM	1	82	11020	604217
HP:0003677	HP:0003677	Slowly progressive	0	SLC5A7 CL E G H	60482	158580	Neuronopathy, distal hereditary motor, type viia	158580	C1834703	OMIM	1	375	14025	608761
HP:0003677	HP:0003677	Slowly progressive	0	SMN1 CL E G H	6606	271150	Spinal muscular atrophy type 4	271150	C1838230	OMIM	1	208	11117	600354
HP:0003677	HP:0003677	Slowly progressive	0	SPG11 CL E G H	80208	602099	Amyotrophic lateral sclerosis type 5	602099	C1865864	OMIM	1	2165	11226	610844
HP:0003677	HP:0003677	Slowly progressive	0	SPG11 CL E G H	80208	616668	Charcot-Marie-Tooth disease, axonal type 2X	616668	C4225253	OMIM	1	2165	11226	610844
HP:0003677	HP:0003677	Slowly progressive	0	SPG21 CL E G H	51324	248900	Mast syndrome	248900	C1855346	OMIM	1	145	20373	608181
HP:0003677	HP:0003677	Slowly progressive	0	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	1	716	11276	604985
HP:0003677	HP:0003677	Slowly progressive	0	SPTBN2 CL E G H	6712	615386	Spinocerebellar ataxia, autosomal recessive 14	615386	C3809327	OMIM	1	716	11276	604985
HP:0003677	HP:0003677	Slowly progressive	0	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	522	11386	605921
HP:0003677	HP:0003677	Slowly progressive	0	SURF1 CL E G H	6834	616684	Charcot-Marie-Tooth disease, type 4k	616684	C4225246	OMIM	1	355	11474	185620
HP:0003677	HP:0003677	Slowly progressive	0	SYNE1 CL E G H	23345	610743	Spinocerebellar ataxia, autosomal recessive 8	610743	C1853116	OMIM	1	4598	17089	608441
HP:0003677	HP:0003677	Slowly progressive	0	SYT14 CL E G H	255928	614229	Spinocerebellar ataxia, autosomal recessive 11	614229	C3280226	OMIM	1	92	23143	610949
HP:0003677	HP:0003677	Slowly progressive	0	TBC1D24 CL E G H	57465	616044	Deafness, autosomal dominant 65	616044	C3892048	OMIM	1	795	29203	613577
HP:0003677	HP:0003677	Slowly progressive	0	TEAD1 CL E G H	7003	108985	Sveinsson chorioretinal atrophy	108985	C1862382	OMIM	1	133	11714	189967
HP:0003677	HP:0003677	Slowly progressive	0	TENM4 CL E G H	26011	616736	Tremor, hereditary essential, 5	616736	C4225223	OMIM	1	100	29945	610084
HP:0003677	HP:0003677	Slowly progressive	0	TFG CL E G H	10342	604484	Neuropathy, hereditary motor and sensory, Okinawa type	604484	C1858338	OMIM	1	307	11758	602498
HP:0003677	HP:0003677	Slowly progressive	0	TGM6 CL E G H	343641	613908	Spinocerebellar ataxia 35	613908	C3888031	OMIM	1	289	16255	613900
HP:0003677	HP:0003677	Slowly progressive	0	TIA1 CL E G H	7072	604454	Welander distal myopathy	604454	C0221054	OMIM	1	190	11802	603518
HP:0003677	HP:0003677	Slowly progressive	0	TMEM240 CL E G H	339453	607454	Spinocerebellar ataxia 21	607454	C1843891	OMIM	1	192	25186	616101
HP:0003677	HP:0003677	Slowly progressive	0	TMEM43 CL E G H	79188	614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	614302	C3553060	OMIM	1	740	28472	612048
HP:0003677	HP:0003677	Slowly progressive	0	TOR1AIP1 CL E G H	26092	617072	Muscular dystrophy, limb-girdle, type 2y	617072	C4310731	OMIM	1	332	29456	614512
HP:0003677	HP:0003677	Slowly progressive	0	TPP1 CL E G H	1200	609270	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	609270	C1836474	OMIM	1	849	2073	607998
HP:0003677	HP:0003677	Slowly progressive	0	TRIM32 CL E G H	22954	254110	Sarcotubular myopathy	254110	C0270968	OMIM	1	516	16380	602290
HP:0003677	HP:0003677	Slowly progressive	0	TTN CL E G H	7273	600334	Distal myopathy Markesbery-Griggs type	600334	C1838244	OMIM	1	22859	12403	188840
HP:0003677	HP:0003677	Slowly progressive	0	VMA21 CL E G H	203547	310440	Myopathy, X-linked, with excessive autophagy	310440	C1839615	OMIM	1	239	22082	300913
HP:0003677	HP:0003677	Slowly progressive	0	VWA3B CL E G H	200403	616948	Spinocerebellar ataxia, autosomal recessive 22	616948	C4310781	OMIM	1	63	28385	614884
HP:0003677	HP:0003677	Slowly progressive	0	WNK1 CL E G H	65125	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	1448	14540	605232
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (159) :ABHD12 ACTA1 ACTN4 ADSSL1 AFG3L2 ALDH18A1 ALG14 ALG2 ALS2 AP4B1 AR ATP1A1 ATP6AP2 ATP7A B4GALNT1 BSCL2 C19ORF12 C19orf12 CACNA1G CCDC88C CFL2 CHCHD10 CHKB CLCN5 CLN8 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 FGF14 FLNC FLVCR1 FN1 FRG1 FZD4 GAN GARS GBA2 GBE1 GJB1 GNB4 GRM1 GYG1 HEPACAM HNRNPDL HPCA HSPB1 HSPB3 IBA57 IGHMBP2 ISPD ITPR1 KBTBD13 KCNC3 KCND3 KIF1A KIF1B KY LAMA2 LMNA LRP5 LRSAM1 MAG MAP3K20 MARS MCM2 MCM3AP MECP2 MFN2 MME MORC2 MPZ 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 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 WNK1

Diseases (167) :612674 616852 603278 617030 610246 601162 616227 616228 205100 607225 606353 614066 313200 618036 300911 300489 609195 600794 270685 615043 616795 616053 610687 616209 615048 602541 308990 610003 158810 616039 616282 616052 608810 616127 615945 611105 607641 609340 615156 614881 603511 615528 610708 160150 614750 614228 158600 253601 617610 609306 615957 310300 611225 617046 617769 615575 260300 609307 609524 614065 609033 601894 158900 133780 256850 601472 614409 263570 302800 615185 617691 614831 616199 613925 609115 224500 608634 613376 616451 616155 606658 609273 605259 607346 201300 610357 118210 617114 618138 181350 614436 616680 617760 616280 616968 618124 300055 609260 617017 617018 616688 118200 180800 613672 160500 255160 608358 181430 254940 609200 182920 617336 618249 617882 617772 614937 615883 607236 606324 609161 300905 610245 614871 614867 605909 617770 312080 618279 118220 610717 617232 609308 605361 614895 617258 615625 612951 117000 602433 614373 615418 265100 158580 271150 602099 616668 248900 600224 615386 160565 616684 610743 614229 616044 108985 616736 604484 613908 604454 607454 614302 617072 609270 254110 600334 310440 616948

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

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