Human Phenotype Ontology

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:0001257	HP:0001257	Spasticity	0	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0001257	HP:0001257	Spasticity	0	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	429	21022	612035
HP:0001257	HP:0001257	Spasticity	0	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	1569	59	600509
HP:0001257	HP:0001257	Spasticity	0	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	430	15868	613599
HP:0001257	HP:0001257	Spasticity	0	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	49	16066	617036
HP:0001257	HP:0001257	Spasticity	0	ADAM22 CL E G H	53616	617933	Early infantile epileptic encephalopathy 61	617933	CN244550	OMIM	1	52	201	603709
HP:0001257	HP:0001257	Spasticity	0	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0001257	HP:0001257	Spasticity	0	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	413	318	613228
HP:0001257	HP:0001257	Spasticity	0	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	437	9722	138250
HP:0001257	HP:0001257	Spasticity	0	ALDH3A2 CL E G H	224	270200	Sjögren-Larsson syndrome	270200	C0037231	OMIM	1	538	403	609523
HP:0001257	HP:0001257	Spasticity	0	ALS2 CL E G H	57679	300605	Juvenile amyotrophic lateral sclerosis		CN239582	ORPHA	1	754	443	606352
HP:0001257	HP:0001257	Spasticity	0	AMACR CL E G H	23600	614307	Alpha-methylacyl-CoA racemase deficiency	614307	C3280428	OMIM	1	290	451	604489
HP:0001257	HP:0001257	Spasticity	0	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	276	469	102771
HP:0001257	HP:0001257	Spasticity	0	ANG CL E G H	283	803				ORPHA	1	97	483	105850
HP:0001257	HP:0001257	Spasticity	0	ANG CL E G H	283	611895	Amyotrophic lateral sclerosis type 9	611895	C2678468	OMIM	1	97	483	105850
HP:0001257	HP:0001257	Spasticity	0	ANK3 CL E G H	288	615493	Mental retardation, autosomal recessive 37	615493	C3809672	OMIM	1	615	494	600465
HP:0001257	HP:0001257	Spasticity	0	ANXA11 CL E G H	311	803				ORPHA	1	201	535	602572
HP:0001257	HP:0001257	Spasticity	0	AP1S2 CL E G H	8905	304340	Pettigrew syndrome	304340	C0796254	OMIM	1	218	560	300629
HP:0001257	HP:0001257	Spasticity	0	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1	300	572	607245
HP:0001257	HP:0001257	Spasticity	0	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	122	575	607243
HP:0001257	HP:0001257	Spasticity	0	ARF1 CL E G H	375	618185	PERIVENTRICULAR NODULAR HETEROTOPIA 8	618185		OMIM	1	62	652	103180
HP:0001257	HP:0001257	Spasticity	0	ARNT2 CL E G H	9915	615926	Webb-Dattani syndrome	615926	C4014708	OMIM	1	111	16876	606036
HP:0001257	HP:0001257	Spasticity	0	ARX CL E G H	170302	2508				ORPHA	1	679	18060	300382
HP:0001257	HP:0001257	Spasticity	0	ARX CL E G H	170302	3175				ORPHA	1	679	18060	300382
HP:0001257	HP:0001257	Spasticity	0	ARX CL E G H	170302	308350	Epileptic encephalopathy, early infantile, 1	308350	C3463992	OMIM	1	679	18060	300382
HP:0001257	HP:0001257	Spasticity	0	ARX CL E G H	170302	300215	Lissencephaly 2, X-linked	300215	C1846171	OMIM	1	679	18060	300382
HP:0001257	HP:0001257	Spasticity	0	ASPA CL E G H	443	314911				ORPHA	1	319	756	608034
HP:0001257	HP:0001257	Spasticity	0	ATAD1 CL E G H	84896	3197	Lateral body wall defect			ORPHA	1	116	25903	614452
HP:0001257	HP:0001257	Spasticity	0	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	292	25567	612316
HP:0001257	HP:0001257	Spasticity	0	ATM CL E G H	472	100				ORPHA	1	13379	795	607585
HP:0001257	HP:0001257	Spasticity	0	ATP13A2 CL E G H	23400	606693	Parkinson disease 9	606693	C1847640	OMIM	1	738	30213	610513
HP:0001257	HP:0001257	Spasticity	0	ATP6V0A2 CL E G H	23545	357074				ORPHA	1	484	18481	611716
HP:0001257	HP:0001257	Spasticity	0	ATP6V1A CL E G H	523	357074				ORPHA	1	123	851	607027
HP:0001257	HP:0001257	Spasticity	0	ATP6V1E1 CL E G H	529	357074				ORPHA	1	172	857	108746
HP:0001257	HP:0001257	Spasticity	0	ATP7A CL E G H	538	565				ORPHA	1	1283	869	300011
HP:0001257	HP:0001257	Spasticity	0	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1544	886	300032
HP:0001257	HP:0001257	Spasticity	0	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	86	10548	601556
HP:0001257	HP:0001257	Spasticity	0	ATXN2 CL E G H	6311	803				ORPHA	1	53	10555	601517
HP:0001257	HP:0001257	Spasticity	0	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	53	10555	601517
HP:0001257	HP:0001257	Spasticity	0	ATXN3 CL E G H	4287	276238				ORPHA	1	46	7106	607047
HP:0001257	HP:0001257	Spasticity	0	ATXN3 CL E G H	4287	276241				ORPHA	1	46	7106	607047
HP:0001257	HP:0001257	Spasticity	0	ATXN3 CL E G H	4287	276244				ORPHA	1	46	7106	607047
HP:0001257	HP:0001257	Spasticity	0	ATXN7 CL E G H	6314	164500	Spinocerebellar ataxia 7	164500	C0752125	OMIM	1	42	10560	607640
HP:0001257	HP:0001257	Spasticity	0	ATXN8 CL E G H	724066	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	2	32925	613289
HP:0001257	HP:0001257	Spasticity	0	ATXN8OS CL E G H	6315	608768	Spinocerebellar ataxia 8	608768	C1837454	OMIM	1	79	10561	603680
HP:0001257	HP:0001257	Spasticity	0	B4GAT1 CL E G H	11041	615287	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13	615287	C3809042	OMIM	1	166	15685	605517
HP:0001257	HP:0001257	Spasticity	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	196	961	605681
HP:0001257	HP:0001257	Spasticity	0	BCL11B CL E G H	64919	618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	618092	CN253429	OMIM	1	330	13222	606558
HP:0001257	HP:0001257	Spasticity	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	334	1020	603647
HP:0001257	HP:0001257	Spasticity	0	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	334	1020	603647
HP:0001257	HP:0001257	Spasticity	0	BOLA3 CL E G H	388962	614299	Multiple mitochondrial dysfunctions syndrome 2	614299	C3280378	OMIM	1	76	24415	613183
HP:0001257	HP:0001257	Spasticity	0	BSCL2 CL E G H	26580	363400				ORPHA	1	435	15832	606158
HP:0001257	HP:0001257	Spasticity	0	BSCL2 CL E G H	26580	615924	Encephalopathy, progressive, with or without lipodystrophy	615924	C4014700	OMIM	1	435	15832	606158
HP:0001257	HP:0001257	Spasticity	0	C19orf12 CL E G H	83636	614298	Neurodegeneration with brain iron accumulation 4	614298	C3280371	OMIM	1	276	25443	614297
HP:0001257	HP:0001257	Spasticity	0	C19orf12 CL E G H	83636	615043	Spastic paraplegia 43, autosomal recessive	615043	C2680446	OMIM	1	276	25443	614297
HP:0001257	HP:0001257	Spasticity	0	C9orf72 CL E G H	203228	803				ORPHA	1	173	28337	614260
HP:0001257	HP:0001257	Spasticity	0	CACNA1G CL E G H	8913	618087	SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS	618087	CN252698	OMIM	1	445	1394	604065
HP:0001257	HP:0001257	Spasticity	0	CAMK2A CL E G H	815	618095	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63	618095	CN253430	OMIM	1	77	1460	114078
HP:0001257	HP:0001257	Spasticity	0	CASK CL E G H	8573	300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	300749	C2677903	OMIM	1	706	1497	300172
HP:0001257	HP:0001257	Spasticity	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1176	29253	612013
HP:0001257	HP:0001257	Spasticity	0	CCNF CL E G H	899	803				ORPHA	1	118	1591	600227
HP:0001257	HP:0001257	Spasticity	0	CDKL5 CL E G H	6792	3095				ORPHA	1	1527	11411	300203
HP:0001257	HP:0001257	Spasticity	0	CFAP410 CL E G H	755	803				ORPHA	1	373	1260	603191
HP:0001257	HP:0001257	Spasticity	0	CHCHD10 CL E G H	400916	803				ORPHA	1	248	15559	615903
HP:0001257	HP:0001257	Spasticity	0	CHMP1A CL E G H	5119	614961	Pontocerebellar hypoplasia type 8	614961	C3554209	OMIM	1	188	8740	164010
HP:0001257	HP:0001257	Spasticity	0	CHMP2B CL E G H	25978	803				ORPHA	1	141	24537	609512
HP:0001257	HP:0001257	Spasticity	0	CIT CL E G H	11113	617090	Microcephaly 17, primary, autosomal recessive	617090	C4310723	OMIM	1	343	1985	605629
HP:0001257	HP:0001257	Spasticity	0	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	110	26877	616174
HP:0001257	HP:0001257	Spasticity	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	181	2586	603432
HP:0001257	HP:0001257	Spasticity	0	CLP1 CL E G H	10978	411493				ORPHA	1	61	16999	608757
HP:0001257	HP:0001257	Spasticity	0	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	61	16999	608757
HP:0001257	HP:0001257	Spasticity	0	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	453	30664	616254
HP:0001257	HP:0001257	Spasticity	0	CLTC CL E G H	1213	617854	MENTAL RETARDATION, AUTOSOMAL DOMINANT 56	617854	CN787270	OMIM	1	390	2092	118955
HP:0001257	HP:0001257	Spasticity	0	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	267	8011	602346
HP:0001257	HP:0001257	Spasticity	0	CNTNAP2 CL E G H	26047	610042	Pitt-Hopkins-like syndrome 1	610042	C2750246	OMIM	1	1634	13830	604569
HP:0001257	HP:0001257	Spasticity	0	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1258	2202	120130
HP:0001257	HP:0001257	Spasticity	0	COL4A2 CL E G H	1284	614483	Porencephaly 2	614483	C3280970	OMIM	1	992	2203	120090
HP:0001257	HP:0001257	Spasticity	0	COPB2 CL E G H	9276	617800	MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE	617800	C4540488	OMIM	1	58	2232	606990
HP:0001257	HP:0001257	Spasticity	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	293	2260	602125
HP:0001257	HP:0001257	Spasticity	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	251	2263	603646
HP:0001257	HP:0001257	Spasticity	0	CSF1R CL E G H	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	221820	C3711381	OMIM	1	518	2433	164770
HP:0001257	HP:0001257	Spasticity	0	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	1044	26169	613129
HP:0001257	HP:0001257	Spasticity	0	CTSD CL E G H	1509	610127	Ceroid lipofuscinosis neuronal 10	610127	C1864669	OMIM	1	527	2529	116840
HP:0001257	HP:0001257	Spasticity	0	CYFIP2 CL E G H	26999	618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65	618008	CN248516	OMIM	1	416	13760	606323
HP:0001257	HP:0001257	Spasticity	0	CYP27A1 CL E G H	1593	909				ORPHA	1	751	2605	606530
HP:0001257	HP:0001257	Spasticity	0	CYP27A1 CL E G H	1593	213700	Cholestanol storage disease	213700	C0238052	OMIM	1	751	2605	606530
HP:0001257	HP:0001257	Spasticity	0	DAO CL E G H	1610	803				ORPHA	1	49	2671	124050
HP:0001257	HP:0001257	Spasticity	0	DARS CL E G H	1615	615281	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	615281	C3809008	OMIM	1		2678	603084
HP:0001257	HP:0001257	Spasticity	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:0001257	HP:0001257	Spasticity	0	DCTN1 CL E G H	1639	803				ORPHA	1	858	2711	601143
HP:0001257	HP:0001257	Spasticity	0	DCX CL E G H	1641	300067	Lissencephaly, X-linked	300067	C1848199	OMIM	1	388	2714	300121
HP:0001257	HP:0001257	Spasticity	0	DDX3X CL E G H	1654	457260				ORPHA	1	602	2745	300160
HP:0001257	HP:0001257	Spasticity	0	DENND5A CL E G H	23258	617281	Epileptic encephalopathy, early infantile, 49	617281	C4310635	OMIM	1	106	19344	617278
HP:0001257	HP:0001257	Spasticity	0	DHCR24 CL E G H	1718	35107				ORPHA	1	216	2859	606418
HP:0001257	HP:0001257	Spasticity	0	DHCR24 CL E G H	1718	602398	Desmosterolosis	602398	C1865596	OMIM	1	216	2859	606418
HP:0001257	HP:0001257	Spasticity	0	DHDDS CL E G H	79947	613861	Retinitis pigmentosa 59	613861	C3151227	OMIM	1	318	20603	608172
HP:0001257	HP:0001257	Spasticity	0	DLD CL E G H	1738	2394	Frontonasal dysplasia Klippel Feil syndrome			ORPHA	1	422	2898	238331
HP:0001257	HP:0001257	Spasticity	0	DNAJC6 CL E G H	9829	615528	Parkinson disease 19a, juvenile-onset	615528	C3809811	OMIM	1	235	15469	608375
HP:0001257	HP:0001257	Spasticity	0	DNMT1 CL E G H	1786	604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	604121	C1858804	OMIM	1	995	2976	126375
HP:0001257	HP:0001257	Spasticity	0	ECHS1 CL E G H	1892	616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	616277	C4225391	OMIM	1	365	3151	602292
HP:0001257	HP:0001257	Spasticity	0	EED CL E G H	8726	3447				ORPHA	1	97	3188	605984
HP:0001257	HP:0001257	Spasticity	0	EIF2B1 CL E G H	1967	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	142	3257	606686
HP:0001257	HP:0001257	Spasticity	0	EIF2B2 CL E G H	8892	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	138	3258	606454
HP:0001257	HP:0001257	Spasticity	0	EIF2B3 CL E G H	8891	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	140	3259	606273
HP:0001257	HP:0001257	Spasticity	0	EIF2B4 CL E G H	8890	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	170	3260	606687
HP:0001257	HP:0001257	Spasticity	0	EIF2B5 CL E G H	8893	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	422	3261	603945
HP:0001257	HP:0001257	Spasticity	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	763	3327	130160
HP:0001257	HP:0001257	Spasticity	0	EML1 CL E G H	2009	600348	Band heterotopia	600348	C1838239	OMIM	1	114	3330	602033
HP:0001257	HP:0001257	Spasticity	0	ENTPD1 CL E G H	953	401810				ORPHA	1	136	3363	601752
HP:0001257	HP:0001257	Spasticity	0	EPHA4 CL E G H	2043	803				ORPHA	1	124	3388	602188
HP:0001257	HP:0001257	Spasticity	0	EPRS CL E G H	2058	617951	LEUKODYSTROPHY, HYPOMYELINATING, 15	617951	CN244566	OMIM	1		3418	138295
HP:0001257	HP:0001257	Spasticity	0	ERBB4 CL E G H	2066	803				ORPHA	1	321	3432	600543
HP:0001257	HP:0001257	Spasticity	0	ERCC2 CL E G H	2068	220295				ORPHA	1	1196	3434	126340
HP:0001257	HP:0001257	Spasticity	0	ERCC2 CL E G H	2068	278730	Xeroderma pigmentosum, group D	278730	C0268138	OMIM	1	1196	3434	126340
HP:0001257	HP:0001257	Spasticity	0	ERCC3 CL E G H	2071	220295				ORPHA	1	368	3435	133510
HP:0001257	HP:0001257	Spasticity	0	ERCC4 CL E G H	2072	220295				ORPHA	1	602	3436	133520
HP:0001257	HP:0001257	Spasticity	0	ERCC5 CL E G H	2073	220295				ORPHA	1	425	3437	133530
HP:0001257	HP:0001257	Spasticity	0	ERCC6 CL E G H	2074	278800	DE SANCTIS-CACCHIONE SYNDROME	278800	C0265201	OMIM	1	1170	3438	609413
HP:0001257	HP:0001257	Spasticity	0	ERLIN2 CL E G H	11160	209951				ORPHA	1	159	1356	611605
HP:0001257	HP:0001257	Spasticity	0	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	190	17944	606489
HP:0001257	HP:0001257	Spasticity	0	EXOSC9 CL E G H	5393	618065	PONTOCEREBELLAR HYPOPLASIA, TYPE 1D	618065	CN252648	OMIM	1	156	9137	606180
HP:0001257	HP:0001257	Spasticity	0	EZH2 CL E G H	2146	3447				ORPHA	1	416	3527	601573
HP:0001257	HP:0001257	Spasticity	0	EZH2 CL E G H	2146	277590	Weaver syndrome	277590	C0265210	OMIM	1	416	3527	601573
HP:0001257	HP:0001257	Spasticity	0	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	197	26222	616107
HP:0001257	HP:0001257	Spasticity	0	FBXO7 CL E G H	25793	171695				ORPHA	1	191	13586	605648
HP:0001257	HP:0001257	Spasticity	0	FGFR1 CL E G H	2260	2396				ORPHA	1	688	3688	136350
HP:0001257	HP:0001257	Spasticity	0	FIG4 CL E G H	9896	803				ORPHA	1	749	16873	609390
HP:0001257	HP:0001257	Spasticity	0	FOXG1 CL E G H	2290	3095				ORPHA	1	614	3811	164874
HP:0001257	HP:0001257	Spasticity	0	FOXG1 CL E G H	2290	613454	Rett syndrome, congenital variant	613454	C3150705	OMIM	1	614	3811	164874
HP:0001257	HP:0001257	Spasticity	0	FRMPD4 CL E G H	9758	300983	Mental retardation, X-linked 104	300983	C4310817	OMIM	1	352	29007	300838
HP:0001257	HP:0001257	Spasticity	0	FRRS1L CL E G H	23732	616981	Epileptic encephalopathy, early infantile, 37	616981	C4310770	OMIM	1	341	1362	604574
HP:0001257	HP:0001257	Spasticity	0	FTL CL E G H	2512	606159	Neuroferritinopathy	606159	C1853578	OMIM	1	151	3999	134790
HP:0001257	HP:0001257	Spasticity	0	FUS CL E G H	2521	803				ORPHA	1	409	4010	137070
HP:0001257	HP:0001257	Spasticity	0	FUS CL E G H	2521	300605	Juvenile amyotrophic lateral sclerosis		CN239582	ORPHA	1	409	4010	137070
HP:0001257	HP:0001257	Spasticity	0	GABBR2 CL E G H	9568	3095				ORPHA	1	682	4507	607340
HP:0001257	HP:0001257	Spasticity	0	GABRB2 CL E G H	2561	617829	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2	617829	CN757794	OMIM	1	421	4082	600232
HP:0001257	HP:0001257	Spasticity	0	GAN CL E G H	8139	643				ORPHA	1	661	4137	605379
HP:0001257	HP:0001257	Spasticity	0	GBA CL E G H	2629	77260				ORPHA	1		4177	606463
HP:0001257	HP:0001257	Spasticity	0	GBA CL E G H	2629	230900	Acute neuronopathic Gaucher's disease	230900	C0268250	OMIM	1		4177	606463
HP:0001257	HP:0001257	Spasticity	0	GBE1 CL E G H	2632	206583				ORPHA	1	600	4180	607839
HP:0001257	HP:0001257	Spasticity	0	GCDH CL E G H	2639	25				ORPHA	1	600	4189	608801
HP:0001257	HP:0001257	Spasticity	0	GFAP CL E G H	2670	203450	Alexander's disease	203450	C0270726	OMIM	1	360	4235	137780
HP:0001257	HP:0001257	Spasticity	0	GFM1 CL E G H	85476	609060	Combined oxidative phosphorylation deficiency 1	609060	C1836797	OMIM	1	495	13780	606639
HP:0001257	HP:0001257	Spasticity	0	GJA1 CL E G H	2697	164200	Oculodentodigital dysplasia	164200	C0812437	OMIM	1	221	4274	121014
HP:0001257	HP:0001257	Spasticity	0	GLE1 CL E G H	2733	803				ORPHA	1	382	4315	603371
HP:0001257	HP:0001257	Spasticity	0	GLRA1 CL E G H	2741	3197	Lateral body wall defect			ORPHA	1	381	4326	138491
HP:0001257	HP:0001257	Spasticity	0	GLRB CL E G H	2743	3197	Lateral body wall defect			ORPHA	1	287	4329	138492
HP:0001257	HP:0001257	Spasticity	0	GNAO1 CL E G H	2775	617493	Neurodevelopmental disorder with involuntary movements	617493	C4479569	OMIM	1	358	4389	139311
HP:0001257	HP:0001257	Spasticity	0	GPAA1 CL E G H	8733	617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15	617810	C4540520	OMIM	1	353	4446	603048
HP:0001257	HP:0001257	Spasticity	0	GPHN CL E G H	10243	3197	Lateral body wall defect			ORPHA	1	982	15465	603930
HP:0001257	HP:0001257	Spasticity	0	GPT2 CL E G H	84706	616281	Mental retardation, autosomal recessive 49	616281	C4225388	OMIM	1	86	18062	138210
HP:0001257	HP:0001257	Spasticity	0	GRIN1 CL E G H	2902	614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	614254	C3280282	OMIM	1	735	4584	138249
HP:0001257	HP:0001257	Spasticity	0	GRIN1 CL E G H	2902	617820	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE	617820	CN737161	OMIM	1	735	4584	138249
HP:0001257	HP:0001257	Spasticity	0	GRIN2B CL E G H	2904	616139	Epileptic encephalopathy, early infantile, 27	616139	C4015316	OMIM	1	1124	4586	138252
HP:0001257	HP:0001257	Spasticity	0	GRIN2B CL E G H	2904	613970	Mental retardation, autosomal dominant 6	613970	C3151411	OMIM	1	1124	4586	138252
HP:0001257	HP:0001257	Spasticity	0	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	163	4659	601679
HP:0001257	HP:0001257	Spasticity	0	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	218	4661	604318
HP:0001257	HP:0001257	Spasticity	0	GTPBP2 CL E G H	54676	617988	JABERI-ELAHI SYNDROME	617988	CN244943	OMIM	1	79	4670	607434
HP:0001257	HP:0001257	Spasticity	0	GUF1 CL E G H	60558	617065	Epileptic encephalopathy, early infantile, 40	617065	C4310737	OMIM	1	220	25799	617064
HP:0001257	HP:0001257	Spasticity	0	HEPACAM CL E G H	220296	604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	604004	C1858854	OMIM	1	247	26361	611642
HP:0001257	HP:0001257	Spasticity	0	HEPACAM CL E G H	220296	613925	Megalencephalic leukoencephalopathy with subcortical cysts 2a	613925	C3151355	OMIM	1	247	26361	611642
HP:0001257	HP:0001257	Spasticity	0	HIKESHI CL E G H	51501	616881	Leukodystrophy, hypomyelinating, 13	616881	C4225170	OMIM	1	52	26938	614908
HP:0001257	HP:0001257	Spasticity	0	HMGCL CL E G H	3155	246450	Deficiency of hydroxymethylglutaryl-CoA lyase	246450	C0268601	OMIM	1	327	5005	613898
HP:0001257	HP:0001257	Spasticity	0	HNRNPA1 CL E G H	3178	803				ORPHA	1	61	5031	164017
HP:0001257	HP:0001257	Spasticity	0	HPRT1 CL E G H	3251	510				ORPHA	1	327	5157	308000
HP:0001257	HP:0001257	Spasticity	0	HPRT1 CL E G H	3251	300322	Lesch-Nyhan syndrome	300322	C0023374	OMIM	1	327	5157	308000
HP:0001257	HP:0001257	Spasticity	0	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	225	9476	602194
HP:0001257	HP:0001257	Spasticity	0	HTT CL E G H	3064	399	46,XX testicular disorder of sex development		C2936420	ORPHA	1	735	4851	613004
HP:0001257	HP:0001257	Spasticity	0	HTT CL E G H	3064	617435	Lopes-Maciel-Rodan syndrome	617435	C4479491	OMIM	1	735	4851	613004
HP:0001257	HP:0001257	Spasticity	0	IKBKG CL E G H	8517	308300	Incontinentia pigmenti syndrome	308300	C0021171	OMIM	1	357	5961	300248
HP:0001257	HP:0001257	Spasticity	0	INPP5K CL E G H	51763	559				ORPHA	1	157	33882	607875
HP:0001257	HP:0001257	Spasticity	0	IRF2BPL CL E G H	64207	618088	NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES	618088	CN252701	OMIM	1	167	14282	611720
HP:0001257	HP:0001257	Spasticity	0	ISCA1 CL E G H	81689	617613	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5	617613	C4539919	OMIM	1	44	28660	611006
HP:0001257	HP:0001257	Spasticity	0	ISCA2 CL E G H	122961	616370	Multiple mitochondrial dysfunctions syndrome 4	616370	C4225348	OMIM	1	56	19857	615317
HP:0001257	HP:0001257	Spasticity	0	ITM2B CL E G H	9445	176500	Dementia familial British	176500	C1867773	OMIM	1	114	6174	603904
HP:0001257	HP:0001257	Spasticity	0	ITM2B CL E G H	9445	117300	Dementia, familial Danish	117300	C1861735	OMIM	1	114	6174	603904
HP:0001257	HP:0001257	Spasticity	0	JAM3 CL E G H	83700	613730	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts	613730	C3151000	OMIM	1	201	15532	606871
HP:0001257	HP:0001257	Spasticity	0	KCNT1 CL E G H	57582	614959	Early infantile epileptic encephalopathy 14	614959	C3554195	OMIM	1	1678	18865	608167
HP:0001257	HP:0001257	Spasticity	0	KDM5C CL E G H	8242	85279				ORPHA	1	596	11114	314690
HP:0001257	HP:0001257	Spasticity	0	KIF1C CL E G H	10749	397946				ORPHA	1	366	6317	603060
HP:0001257	HP:0001257	Spasticity	0	KIF1C CL E G H	10749	611302	Ataxia, spastic, 2, autosomal recessive	611302	C1969796	OMIM	1	366	6317	603060
HP:0001257	HP:0001257	Spasticity	0	KRAS CL E G H	3845	2396				ORPHA	1	440	6407	190070
HP:0001257	HP:0001257	Spasticity	0	L1CAM CL E G H	3897	2182				ORPHA	1	794	6470	308840
HP:0001257	HP:0001257	Spasticity	0	L1CAM CL E G H	3897	1497	Congenital mixovirus			ORPHA	1	794	6470	308840
HP:0001257	HP:0001257	Spasticity	0	L1CAM CL E G H	3897	304100	Corpus callosum, partial agenesis of, X-linked	304100	C1839909	OMIM	1	794	6470	308840
HP:0001257	HP:0001257	Spasticity	0	L1CAM CL E G H	3897	307000	X-linked hydrocephalus syndrome	307000	C0265216	OMIM	1	794	6470	308840
HP:0001257	HP:0001257	Spasticity	0	LAGE3 CL E G H	8270	301006	GALLOWAY-MOWAT SYNDROME 2, X-LINKED	301006	C4538784	OMIM	1	233	26058	300060
HP:0001257	HP:0001257	Spasticity	0	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	201	6613	601329
HP:0001257	HP:0001257	Spasticity	0	LMNB1 CL E G H	4001	99027				ORPHA	1	169	6637	150340
HP:0001257	HP:0001257	Spasticity	0	LMNB1 CL E G H	4001	169500	Leukodystrophy, adult-onset, autosomal dominant	169500	C1868512	OMIM	1	169	6637	150340
HP:0001257	HP:0001257	Spasticity	0	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1015	6826	609458
HP:0001257	HP:0001257	Spasticity	0	MARS2 CL E G H	92935	611390	Ataxia, spastic, 3, autosomal recessive	611390	C1969645	OMIM	1	130	25133	609728
HP:0001257	HP:0001257	Spasticity	0	MATR3 CL E G H	9782	803				ORPHA	1	333	6912	164015
HP:0001257	HP:0001257	Spasticity	0	MECP2 CL E G H	4204	778				ORPHA	1	1778	6990	300005
HP:0001257	HP:0001257	Spasticity	0	MECP2 CL E G H	4204	3095				ORPHA	1	1778	6990	300005
HP:0001257	HP:0001257	Spasticity	0	MECP2 CL E G H	4204	312750	Rett syndrome	312750	C0035372	OMIM	1	1778	6990	300005
HP:0001257	HP:0001257	Spasticity	0	MED17 CL E G H	9440	613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	613668	C3150921	OMIM	1	357	2375	603810
HP:0001257	HP:0001257	Spasticity	0	MED25 CL E G H	81857	616449	Basel-Vanagaite-Smirin-Yosef syndrome	616449	C4225323	OMIM	1	525	28845	610197
HP:0001257	HP:0001257	Spasticity	0	MFF CL E G H	56947	617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	617086	C4310726	OMIM	1	117	24858	614785
HP:0001257	HP:0001257	Spasticity	0	MLC1 CL E G H	23209	604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	604004	C1858854	OMIM	1	578	17082	605908
HP:0001257	HP:0001257	Spasticity	0	MRPS34 CL E G H	65993	617664	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	617664	C4540029	OMIM	1	83	16618	611994
HP:0001257	HP:0001257	Spasticity	0	MT-TF CL E G H	4558	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7481	590070
HP:0001257	HP:0001257	Spasticity	0	MT-TI CL E G H	4565	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7488	590045
HP:0001257	HP:0001257	Spasticity	0	MT-TK CL E G H	4566	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7489	590060
HP:0001257	HP:0001257	Spasticity	0	MT-TL1 CL E G H	4567	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7490	590050
HP:0001257	HP:0001257	Spasticity	0	MT-TP CL E G H	4571	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7494	590075
HP:0001257	HP:0001257	Spasticity	0	MTFMT CL E G H	123263	618248	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27	618248		OMIM	1	181	29666	611766
HP:0001257	HP:0001257	Spasticity	0	NACC1 CL E G H	112939	617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	617393	C4479333	OMIM	1	239	20967	610672
HP:0001257	HP:0001257	Spasticity	0	NADK2 CL E G H	133686	616034	2,4-Dienoyl-CoA reductase deficiency	616034	C1857252	OMIM	1	164	26404	615787
HP:0001257	HP:0001257	Spasticity	0	NAGA CL E G H	4668	79279				ORPHA	1	183	7631	104170
HP:0001257	HP:0001257	Spasticity	0	NAGA CL E G H	4668	609241	Schindler disease, type 1	609241	C1836544	OMIM	1	183	7631	104170
HP:0001257	HP:0001257	Spasticity	0	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	206	26274	612803
HP:0001257	HP:0001257	Spasticity	0	NDUFA6 CL E G H	4700	618253	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33	618253		OMIM	1	56	7690	602138
HP:0001257	HP:0001257	Spasticity	0	NDUFAF5 CL E G H	79133	618238	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16	618238		OMIM	1	273	15899	612360
HP:0001257	HP:0001257	Spasticity	0	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	104	7711	602694
HP:0001257	HP:0001257	Spasticity	0	NDUFV2 CL E G H	4729	618229	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7	618229		OMIM	1	191	7717	600532
HP:0001257	HP:0001257	Spasticity	0	NEFH CL E G H	4744	803				ORPHA	1	465	7737	162230
HP:0001257	HP:0001257	Spasticity	0	NEK1 CL E G H	4750	803				ORPHA	1	525	7744	604588
HP:0001257	HP:0001257	Spasticity	0	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	817	29433	300524
HP:0001257	HP:0001257	Spasticity	0	NKX6-2 CL E G H	84504	617560	SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY	617560	C4479653	OMIM	1	172	19321	605955
HP:0001257	HP:0001257	Spasticity	0	NOTCH3 CL E G H	4854	136				ORPHA	1	1133	7883	600276
HP:0001257	HP:0001257	Spasticity	0	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	1693	7897	607623
HP:0001257	HP:0001257	Spasticity	0	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	183	14537	601015
HP:0001257	HP:0001257	Spasticity	0	NSD1 CL E G H	64324	3447				ORPHA	1	1390	14234	606681
HP:0001257	HP:0001257	Spasticity	0	NSUN2 CL E G H	54888	611091	Mental retardation, autosomal recessive 5	611091	C1970199	OMIM	1	443	25994	610916
HP:0001257	HP:0001257	Spasticity	0	NTNG1 CL E G H	22854	3095				ORPHA	1	45	23319	608818
HP:0001257	HP:0001257	Spasticity	0	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	237	20278	613621
HP:0001257	HP:0001257	Spasticity	0	NUP62 CL E G H	23636	271930	Striatonigral degeneration infantile	271930	C0795996	OMIM	1	97	8066	605815
HP:0001257	HP:0001257	Spasticity	0	NUS1 CL E G H	116150	617082	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa	617082	C4310727	OMIM	1	220	21042	610463
HP:0001257	HP:0001257	Spasticity	0	OCLN CL E G H	100506658	1229				ORPHA	1	103	8104	602876
HP:0001257	HP:0001257	Spasticity	0	OCLN CL E G H	100506658	251290	Band-like calcification with simplified gyration and polymicrogyria	251290	C3489725	OMIM	1	103	8104	602876
HP:0001257	HP:0001257	Spasticity	0	OPA3 CL E G H	80207	258501	3-Methylglutaconic aciduria type 3	258501	C0574084	OMIM	1	448	8142	606580
HP:0001257	HP:0001257	Spasticity	0	OPHN1 CL E G H	4983	300486	Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance	300486	C1845366	OMIM	1	381	8148	300127
HP:0001257	HP:0001257	Spasticity	0	OPTN CL E G H	10133	803				ORPHA	1	328	17142	602432
HP:0001257	HP:0001257	Spasticity	0	OSGEP CL E G H	55644	617729	GALLOWAY-MOWAT SYNDROME 3	617729	C4540266	OMIM	1	106	18028	610107
HP:0001257	HP:0001257	Spasticity	0	PANK2 CL E G H	80025	216873				ORPHA	1	371	15894	606157
HP:0001257	HP:0001257	Spasticity	0	PANK2 CL E G H	80025	607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	607236	C1846582	OMIM	1	371	15894	606157
HP:0001257	HP:0001257	Spasticity	0	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	371	15894	606157
HP:0001257	HP:0001257	Spasticity	0	PCLO CL E G H	27445	608027	Pontocerebellar hypoplasia type 3	608027	C1842687	OMIM	1	1566	13406	604918
HP:0001257	HP:0001257	Spasticity	0	PEX1 CL E G H	5189	772				ORPHA	1	1205	8850	602136
HP:0001257	HP:0001257	Spasticity	0	PEX10 CL E G H	5192	772				ORPHA	1	654	8851	602859
HP:0001257	HP:0001257	Spasticity	0	PEX11B CL E G H	8799	772				ORPHA	1	350	8853	603867
HP:0001257	HP:0001257	Spasticity	0	PEX12 CL E G H	5193	772				ORPHA	1	360	8854	601758
HP:0001257	HP:0001257	Spasticity	0	PEX13 CL E G H	5194	772				ORPHA	1	397	8855	601789
HP:0001257	HP:0001257	Spasticity	0	PEX14 CL E G H	5195	772				ORPHA	1	374	8856	601791
HP:0001257	HP:0001257	Spasticity	0	PEX16 CL E G H	9409	772				ORPHA	1	346	8857	603360
HP:0001257	HP:0001257	Spasticity	0	PEX19 CL E G H	5824	772				ORPHA	1	304	9713	600279
HP:0001257	HP:0001257	Spasticity	0	PEX2 CL E G H	5828	772				ORPHA	1	366	9717	170993
HP:0001257	HP:0001257	Spasticity	0	PEX26 CL E G H	55670	772				ORPHA	1	431	22965	608666
HP:0001257	HP:0001257	Spasticity	0	PEX3 CL E G H	8504	772				ORPHA	1	271	8858	603164
HP:0001257	HP:0001257	Spasticity	0	PEX5 CL E G H	5830	772				ORPHA	1	689	9719	600414
HP:0001257	HP:0001257	Spasticity	0	PEX6 CL E G H	5190	772				ORPHA	1	1085	8859	601498
HP:0001257	HP:0001257	Spasticity	0	PEX7 CL E G H	5191	215100	Rhizomelic chondrodysplasia punctata type 1	215100	C1859133	OMIM	1	441	8860	601757
HP:0001257	HP:0001257	Spasticity	0	PFN1 CL E G H	5216	803				ORPHA	1	87	8881	176610
HP:0001257	HP:0001257	Spasticity	0	PFN1 CL E G H	5216	614808	Amyotrophic lateral sclerosis 18	614808	C3553719	OMIM	1	87	8881	176610
HP:0001257	HP:0001257	Spasticity	0	PIGA CL E G H	5277	300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	300868	C3275508	OMIM	1	421	8957	311770
HP:0001257	HP:0001257	Spasticity	0	PIGN CL E G H	23556	614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	614080	C3279775	OMIM	1	857	8967	606097
HP:0001257	HP:0001257	Spasticity	0	PLA2G6 CL E G H	8398	199351				ORPHA	1	598	9039	603604
HP:0001257	HP:0001257	Spasticity	0	PLA2G6 CL E G H	8398	610217	Neurodegeneration with brain iron accumulation 2b	610217	C1857747	OMIM	1	598	9039	603604
HP:0001257	HP:0001257	Spasticity	0	PLA2G6 CL E G H	8398	612953	Parkinson disease 14	612953	C2751842	OMIM	1	598	9039	603604
HP:0001257	HP:0001257	Spasticity	0	PLCB1 CL E G H	23236	613722	Early infantile epileptic encephalopathy 12	613722	C3150988	OMIM	1	952	15917	607120
HP:0001257	HP:0001257	Spasticity	0	PMPCA CL E G H	23203	213200	Spinocerebellar ataxia, autosomal recessive 2	213200	C1859298	OMIM	1	140	18667	613036
HP:0001257	HP:0001257	Spasticity	0	PMPCB CL E G H	9512	617954	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6	617954	CN244567	OMIM	1	68	9119	603131
HP:0001257	HP:0001257	Spasticity	0	PNPLA8 CL E G H	50640	251950	Mitochondrial myopathy with lactic acidosis	251950	C1855033	OMIM	1	90	28900	612123
HP:0001257	HP:0001257	Spasticity	0	POLR3A CL E G H	11128	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	785	30074	614258
HP:0001257	HP:0001257	Spasticity	0	POLR3B CL E G H	55703	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	368	30348	614366
HP:0001257	HP:0001257	Spasticity	0	POLR3B CL E G H	55703	614381	Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism	614381	C3280644	OMIM	1	368	30348	614366
HP:0001257	HP:0001257	Spasticity	0	POMGNT1 CL E G H	55624	253280	Muscle eye brain disease	253280	C0457133	OMIM	1	943	19139	606822
HP:0001257	HP:0001257	Spasticity	0	PON1 CL E G H	5444	803				ORPHA	1	58	9204	168820
HP:0001257	HP:0001257	Spasticity	0	PON2 CL E G H	5445	803				ORPHA	1	50	9205	602447
HP:0001257	HP:0001257	Spasticity	0	PON3 CL E G H	5446	803				ORPHA	1	46	9206	602720
HP:0001257	HP:0001257	Spasticity	0	PPARGC1A CL E G H	10891	803				ORPHA	1	48	9237	604517
HP:0001257	HP:0001257	Spasticity	0	PPP1R15B CL E G H	84919	616817	Microcephaly, short stature, and impaired glucose metabolism 2	616817	C4225195	OMIM	1	40	14951	613257
HP:0001257	HP:0001257	Spasticity	0	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	516	9325	600722
HP:0001257	HP:0001257	Spasticity	0	PQBP1 CL E G H	10084	309500	Renpenning syndrome 1	309500	C0796135	OMIM	1	269	9330	300463
HP:0001257	HP:0001257	Spasticity	0	PRNP CL E G H	5621	137440	Gerstmann-Straussler-Scheinker syndrome	137440	C0017495	OMIM	1	164	9449	176640
HP:0001257	HP:0001257	Spasticity	0	PRPH CL E G H	5630	803				ORPHA	1	53	9461	170710
HP:0001257	HP:0001257	Spasticity	0	PUM1 CL E G H	9698	617931	SPINOCEREBELLAR ATAXIA 47	617931	CN244564	OMIM	1	115	14957	607204
HP:0001257	HP:0001257	Spasticity	0	PYCR2 CL E G H	29920	616420	Leukodystrophy, hypomyelinating, 10	616420	C4225332	OMIM	1	104	30262	616406
HP:0001257	HP:0001257	Spasticity	0	RAB11B CL E G H	9230	617807	NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER	617807	C4540498	OMIM	1	112	9761	604198
HP:0001257	HP:0001257	Spasticity	0	RAB18 CL E G H	22931	2510				ORPHA	1	180	14244	602207
HP:0001257	HP:0001257	Spasticity	0	RAB27A CL E G H	5873	607624	Griscelli syndrome type 2	607624	C1868679	OMIM	1	260	9766	603868
HP:0001257	HP:0001257	Spasticity	0	RAB3GAP1 CL E G H	22930	2510				ORPHA	1	317	17063	602536
HP:0001257	HP:0001257	Spasticity	0	RAB3GAP2 CL E G H	25782	2510				ORPHA	1	474	17168	609275
HP:0001257	HP:0001257	Spasticity	0	RAD50 CL E G H	10111	613078	Nijmegen breakage syndrome-like disorder	613078	C2751318	OMIM	1	3571	9816	604040
HP:0001257	HP:0001257	Spasticity	0	RARS CL E G H	5917	616140	Leukodystrophy, hypomyelinating, 9	616140	C4015323	OMIM	1		9870	107820
HP:0001257	HP:0001257	Spasticity	0	REPS1 CL E G H	85021	617916	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7	617916	CN895590	OMIM	1	80	15578	614825
HP:0001257	HP:0001257	Spasticity	0	RETREG1 CL E G H	54463	613115	Hereditary sensory and autonomic neuropathy type IIB	613115	C2751092	OMIM	1	453	25964	613114
HP:0001257	HP:0001257	Spasticity	0	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	180	9970	600404
HP:0001257	HP:0001257	Spasticity	0	RFT1 CL E G H	91869	612015	Congenital disorder of glycosylation type 1N	612015	C2677590	OMIM	1	399	30220	611908
HP:0001257	HP:0001257	Spasticity	0	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	187	13429	300379
HP:0001257	HP:0001257	Spasticity	0	RNASEH2A CL E G H	10535	610333	Aicardi Goutieres syndrome 4	610333	C1835912	OMIM	1	314	18518	606034
HP:0001257	HP:0001257	Spasticity	0	RNASEH2C CL E G H	84153	610329	Aicardi Goutieres syndrome 3	610329	C1835916	OMIM	1	235	24116	610330
HP:0001257	HP:0001257	Spasticity	0	RNU4ATAC CL E G H	100151683	2636	Hemihypertrophy intestinal web corneal opacity			ORPHA	1	214	34016	601428
HP:0001257	HP:0001257	Spasticity	0	ROGDI CL E G H	79641	1946				ORPHA	1	473	29478	614574
HP:0001257	HP:0001257	Spasticity	0	ROGDI CL E G H	79641	226750	Kohlschutter's syndrome	226750	C0406740	OMIM	1	473	29478	614574
HP:0001257	HP:0001257	Spasticity	0	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1135	29168	610937
HP:0001257	HP:0001257	Spasticity	0	RPIA CL E G H	22934	608611	Deficiency of ribose-5-phosphate isomerase	608611	C1291609	OMIM	1	82	10297	180430
HP:0001257	HP:0001257	Spasticity	0	RUSC2 CL E G H	9853	617773	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61	617773	C4540424	OMIM	1	584	23625	611053
HP:0001257	HP:0001257	Spasticity	0	SACS CL E G H	26278	270550	Spastic ataxia Charlevoix-Saguenay type	270550	C1849140	OMIM	1	2506	10519	604490
HP:0001257	HP:0001257	Spasticity	0	SAMHD1 CL E G H	25939	612952	Aicardi Goutieres syndrome 5	612952	C2749659	OMIM	1	548	15925	606754
HP:0001257	HP:0001257	Spasticity	0	SCN1B CL E G H	6324	617350	Epileptic encephalopathy, early infantile, 52	617350	C4479236	OMIM	1	444	10586	600235
HP:0001257	HP:0001257	Spasticity	0	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2186	10680	600857
HP:0001257	HP:0001257	Spasticity	0	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2186	10680	600857
HP:0001257	HP:0001257	Spasticity	0	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	60	33867	612848
HP:0001257	HP:0001257	Spasticity	0	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	607	10683	602690
HP:0001257	HP:0001257	Spasticity	0	SERAC1 CL E G H	84947	614739	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	614739	C3553597	OMIM	1	312	21061	614725
HP:0001257	HP:0001257	Spasticity	0	SIGMAR1 CL E G H	10280	614373	Amyotrophic lateral sclerosis 16, juvenile	614373	C3280587	OMIM	1	206	8157	601978
HP:0001257	HP:0001257	Spasticity	0	SIGMAR1 CL E G H	10280	300605	Juvenile amyotrophic lateral sclerosis		CN239582	ORPHA	1	206	8157	601978
HP:0001257	HP:0001257	Spasticity	0	SIL1 CL E G H	64374	559				ORPHA	1	229	24624	608005
HP:0001257	HP:0001257	Spasticity	0	SIL1 CL E G H	64374	248800	Marinesco-Sjögren syndrome	248800	C0024814	OMIM	1	229	24624	608005
HP:0001257	HP:0001257	Spasticity	0	SLC13A5 CL E G H	284111	1946				ORPHA	1	568	23089	608305
HP:0001257	HP:0001257	Spasticity	0	SLC13A5 CL E G H	284111	615905	Epileptic encephalopathy, early infantile, 25	615905	C4014621	OMIM	1	568	23089	608305
HP:0001257	HP:0001257	Spasticity	0	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	411	10933	604322
HP:0001257	HP:0001257	Spasticity	0	SLC25A12 CL E G H	8604	612949	Hypomyelination, global cerebral	612949	C2751855	OMIM	1	348	10982	603667
HP:0001257	HP:0001257	Spasticity	0	SLC25A22 CL E G H	79751	609304	Early myoclonic encephalopathy	609304	C0270855	OMIM	1	478	19954	609302
HP:0001257	HP:0001257	Spasticity	0	SLC2A1 CL E G H	6513	71277				ORPHA	1	827	11005	138140
HP:0001257	HP:0001257	Spasticity	0	SLC2A1 CL E G H	6513	606777	GLUT1 deficiency syndrome 1	606777	CN030711	OMIM	1	827	11005	138140
HP:0001257	HP:0001257	Spasticity	0	SLC2A1 CL E G H	6513	608885	Stomatin-deficient cryohydrocytosis with neurologic defects	608885	C1837206	OMIM	1	827	11005	138140
HP:0001257	HP:0001257	Spasticity	0	SLC2A3 CL E G H	6515	399	46,XX testicular disorder of sex development		C2936420	ORPHA	1	71	11007	138170
HP:0001257	HP:0001257	Spasticity	0	SLC39A14 CL E G H	23516	617013	Hypermanganesemia with dystonia 2	617013	C4310765	OMIM	1	176	20858	608736
HP:0001257	HP:0001257	Spasticity	0	SLC6A5 CL E G H	9152	3197	Lateral body wall defect			ORPHA	1	532	11051	604159
HP:0001257	HP:0001257	Spasticity	0	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	903	11055	300036
HP:0001257	HP:0001257	Spasticity	0	SMPD1 CL E G H	6609	257200	Niemann-Pick disease, type A	257200	C0268242	OMIM	1	747	11120	607608
HP:0001257	HP:0001257	Spasticity	0	SNCA CL E G H	6622	171695				ORPHA	1	177	11138	163890
HP:0001257	HP:0001257	Spasticity	0	SNORD118 CL E G H	727676	614561	Leukoencephalopathy, brain calcifications, and cysts	614561	C3281200	OMIM	1	130	32952	616663
HP:0001257	HP:0001257	Spasticity	0	SNX14 CL E G H	57231	616354	Spinocerebellar ataxia, autosomal recessive 20	616354	C4225355	OMIM	1	162	14977	616105
HP:0001257	HP:0001257	Spasticity	0	SOD1 CL E G H	6647	803				ORPHA	1	253	11179	147450
HP:0001257	HP:0001257	Spasticity	0	SOD1 CL E G H	6647	105400	Amyotrophic lateral sclerosis type 1	105400	C1862939	OMIM	1	253	11179	147450
HP:0001257	HP:0001257	Spasticity	0	SOX10 CL E G H	6663	163746				ORPHA	1	302	11190	602229
HP:0001257	HP:0001257	Spasticity	0	SPATA5 CL E G H	166378	616577	Epilepsy, hearing loss, and mental retardation syndrome	616577	C4225276	OMIM	1	646	18119	613940
HP:0001257	HP:0001257	Spasticity	0	SPG11 CL E G H	80208	602099	Amyotrophic lateral sclerosis type 5	602099	C1865864	OMIM	1	2165	11226	610844
HP:0001257	HP:0001257	Spasticity	0	SPG11 CL E G H	80208	300605	Juvenile amyotrophic lateral sclerosis		CN239582	ORPHA	1	2165	11226	610844
HP:0001257	HP:0001257	Spasticity	0	SPG21 CL E G H	51324	101001				ORPHA	1	145	20373	608181
HP:0001257	HP:0001257	Spasticity	0	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	160	11257	182125
HP:0001257	HP:0001257	Spasticity	0	SQSTM1 CL E G H	8878	803				ORPHA	1	542	11280	601530
HP:0001257	HP:0001257	Spasticity	0	STN1 CL E G H	79991	617341	Cerebroretinal microangiopathy with calcifications and cysts 2	617341	C4479220	OMIM	1	138	26200	613128
HP:0001257	HP:0001257	Spasticity	0	STXBP1 CL E G H	6812	3095				ORPHA	1	871	11444	602926
HP:0001257	HP:0001257	Spasticity	0	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	309	11448	603921
HP:0001257	HP:0001257	Spasticity	0	SUMF1 CL E G H	285362	272200	Multiple sulfatase deficiency	272200	C0268263	OMIM	1	564	20376	607939
HP:0001257	HP:0001257	Spasticity	0	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	355	11474	185620
HP:0001257	HP:0001257	Spasticity	0	SUZ12 CL E G H	23512	3447				ORPHA	1	103	17101	606245
HP:0001257	HP:0001257	Spasticity	0	TAF15 CL E G H	8148	803				ORPHA	1	89	11547	601574
HP:0001257	HP:0001257	Spasticity	0	TAF2 CL E G H	6873	615599	Mental retardation, autosomal recessive 40	615599	C3810080	OMIM	1	169	11536	604912
HP:0001257	HP:0001257	Spasticity	0	TARDBP CL E G H	23435	803				ORPHA	1	259	11571	605078
HP:0001257	HP:0001257	Spasticity	0	TARDBP CL E G H	23435	612069	Amyotrophic lateral sclerosis type 10	612069	C2677565	OMIM	1	259	11571	605078
HP:0001257	HP:0001257	Spasticity	0	TBC1D20 CL E G H	128637	2510				ORPHA	1	154	16133	611663
HP:0001257	HP:0001257	Spasticity	0	TBK1 CL E G H	29110	803				ORPHA	1	294	11584	604834
HP:0001257	HP:0001257	Spasticity	0	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	166	11586	605842
HP:0001257	HP:0001257	Spasticity	0	TBP CL E G H	6908	98759				ORPHA	1	116	11588	600075
HP:0001257	HP:0001257	Spasticity	0	TCTN2 CL E G H	79867	616654	Joubert syndrome 24	616654	C4084841	OMIM	1	453	25774	613846
HP:0001257	HP:0001257	Spasticity	0	TELO2 CL E G H	9894	616954	You-Hoover-Fong syndrome	616954	C4310778	OMIM	1	175	29099	611140
HP:0001257	HP:0001257	Spasticity	0	TIMM8A CL E G H	1678	304700	Mohr-Tranebjaerg syndrome	304700	C0796074	OMIM	1	217	11817	300356
HP:0001257	HP:0001257	Spasticity	0	TMEM231 CL E G H	79583	2752				ORPHA	1	341	37234	614949
HP:0001257	HP:0001257	Spasticity	0	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	674	28396	609884
HP:0001257	HP:0001257	Spasticity	0	TMTC3 CL E G H	160418	617255	Lissencephaly 8	617255	C4310646	OMIM	1	108	26899	617218
HP:0001257	HP:0001257	Spasticity	0	TP53RK CL E G H	112858	617730	GALLOWAY-MOWAT SYNDROME 4	617730	C4540270	OMIM	1	40	16197	608679
HP:0001257	HP:0001257	Spasticity	0	TPI1 CL E G H	7167	615512	Triosephosphate isomerase deficiency	615512	C1860808	OMIM	1	144	12009	190450
HP:0001257	HP:0001257	Spasticity	0	TPK1 CL E G H	27010	614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	614458	C3280866	OMIM	1	261	17358	606370
HP:0001257	HP:0001257	Spasticity	0	TPRKB CL E G H	51002	617731	GALLOWAY-MOWAT SYNDROME 5	617731	C4540274	OMIM	1	22	24259	608680
HP:0001257	HP:0001257	Spasticity	0	TRAK1 CL E G H	22906	618201	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68	618201		OMIM	1	106	29947	608112
HP:0001257	HP:0001257	Spasticity	0	TRAPPC12 CL E G H	51112	617669	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY	617669	C4540059	OMIM	1	114	24284	614139
HP:0001257	HP:0001257	Spasticity	0	TREM2 CL E G H	54209	803				ORPHA	1	110	17761	605086
HP:0001257	HP:0001257	Spasticity	0	TREM2 CL E G H	54209	2770				ORPHA	1	110	17761	605086
HP:0001257	HP:0001257	Spasticity	0	TREX1 CL E G H	11277	225750	Aicardi Goutieres syndrome 1	225750	C0796126	OMIM	1	327	12269	606609
HP:0001257	HP:0001257	Spasticity	0	TRIT1 CL E G H	54802	617873	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35	617873	CN807948	OMIM	1	76	20286	617840
HP:0001257	HP:0001257	Spasticity	0	TRMT5 CL E G H	57570	616539	Combined oxidative phosphorylation deficiency 26	616539	C4225290	OMIM	1	98	23141	611023
HP:0001257	HP:0001257	Spasticity	0	TSEN54 CL E G H	283989	225753	Pontocerebellar hypoplasia type 4	225753	C1856974	OMIM	1	304	27561	608755
HP:0001257	HP:0001257	Spasticity	0	TTR CL E G H	7276	105210	Amyloidogenic transthyretin amyloidosis	105210	C2751492	OMIM	1	341	12405	176300
HP:0001257	HP:0001257	Spasticity	0	TUBB3 CL E G H	10381	614039	Cortical dysplasia, complex, with other brain malformations 1	614039	C3808397	OMIM	1	247	20772	602661
HP:0001257	HP:0001257	Spasticity	0	TUBB4A CL E G H	10382	612438	Leukodystrophy, hypomyelinating, 6	612438	C2676244	OMIM	1	219	20774	602662
HP:0001257	HP:0001257	Spasticity	0	TXN2 CL E G H	25828	616811	Combined oxidative phosphorylation deficiency 29	616811	C4225200	OMIM	1	50	17772	609063
HP:0001257	HP:0001257	Spasticity	0	TYROBP CL E G H	7305	2770				ORPHA	1	85	12449	604142
HP:0001257	HP:0001257	Spasticity	0	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	85	12449	604142
HP:0001257	HP:0001257	Spasticity	0	UBA5 CL E G H	79876	617132	Epileptic encephalopathy, early infantile, 44	617132	C4310700	OMIM	1	157	23230	610552
HP:0001257	HP:0001257	Spasticity	0	UBQLN2 CL E G H	29978	803				ORPHA	1	223	12509	300264
HP:0001257	HP:0001257	Spasticity	0	UBTF CL E G H	7343	617672	NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY	617672	C4540086	OMIM	1	55	12511	600673
HP:0001257	HP:0001257	Spasticity	0	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	25	26941	610554
HP:0001257	HP:0001257	Spasticity	0	UFM1 CL E G H	51569	617899	LEUKODYSTROPHY, HYPOMYELINATING, 14	617899	CN845004	OMIM	1	65	20597	610553
HP:0001257	HP:0001257	Spasticity	0	UNC13A CL E G H	23025	803				ORPHA	1	75	23150	609894
HP:0001257	HP:0001257	Spasticity	0	UNC80 CL E G H	285175	616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	616801	C4225203	OMIM	1	1166	26582	612636
HP:0001257	HP:0001257	Spasticity	0	VAPB CL E G H	9217	803				ORPHA	1	319	12649	605704
HP:0001257	HP:0001257	Spasticity	0	VCP CL E G H	7415	803				ORPHA	1	473	12666	601023
HP:0001257	HP:0001257	Spasticity	0	VPS11 CL E G H	55823	466934				ORPHA	1	139	14583	608549
HP:0001257	HP:0001257	Spasticity	0	VPS11 CL E G H	55823	616683	Leukodystrophy, hypomyelinating, 12	616683	C4225247	OMIM	1	139	14583	608549
HP:0001257	HP:0001257	Spasticity	0	VPS13D CL E G H	55187	607317	Spinocerebellar ataxia autosomal recessive 4	607317	C1846492	OMIM	1	390	23595	608877
HP:0001257	HP:0001257	Spasticity	0	WDR73 CL E G H	84942	83472				ORPHA	1	138	25928	616144
HP:0001257	HP:0001257	Spasticity	0	WWOX CL E G H	51741	616211	Epileptic encephalopathy, early infantile, 28	616211	C4015519	OMIM	1	967	12799	605131
HP:0001257	HP:0001257	Spasticity	0	XPA CL E G H	7507	278700	Xeroderma pigmentosum, type 1	278700	C0268135	OMIM	1	276	12814	611153
HP:0001257	HP:0001257	Spasticity	0	ZC4H2 CL E G H	55906	314580	Wieacker Wolff syndrome	314580	C0796200	OMIM	1	237	24931	300897
HP:0001257	HP:0001257	Spasticity	0	ZNF335 CL E G H	63925	615095	Primary autosomal recessive microcephaly 10	615095	C3554499	OMIM	1	311	15807	610827
HP:0001257	HP:0001257	Spasticity	0	ZNF592 CL E G H	9640	83472				ORPHA	1	67	28986	613624
HP:0001257	HP:0002491	Spasticity of facial muscles	1	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0001257	HP:0031866	Clasp-knife sign	1	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0001257	HP:0002061	Lower limb spasticity	1	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0001257	HP:0002179	Opisthotonus	1	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0001257	HP:0002191	Progressive spasticity	1	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0001257	HP:0001264	Spastic diplegia	1	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0001257	HP:0002464	Spastic dysarthria	1	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0001257	HP:0002064	Spastic gait	1	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0001257	HP:0011099	Spastic hemiparesis	1	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0001257	HP:0001285	Spastic tetraparesis	1	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0001257	HP:0002510	Spastic tetraplegia	1	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0001257	HP:0002501	Spasticity of pharyngeal muscles	1	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0001257	HP:0006986	Upper limb spasticity	1	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0001257	HP:0002491	Spasticity of facial muscles	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	429	21022	612035
HP:0001257	HP:0031866	Clasp-knife sign	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	429	21022	612035
HP:0001257	HP:0002061	Lower limb spasticity	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	429	21022	612035
HP:0001257	HP:0002179	Opisthotonus	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	429	21022	612035
HP:0001257	HP:0002191	Progressive spasticity	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	429	21022	612035
HP:0001257	HP:0001264	Spastic diplegia	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	429	21022	612035
HP:0001257	HP:0002464	Spastic dysarthria	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	429	21022	612035
HP:0001257	HP:0002064	Spastic gait	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	429	21022	612035
HP:0001257	HP:0011099	Spastic hemiparesis	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	429	21022	612035
HP:0001257	HP:0001285	Spastic tetraparesis	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	429	21022	612035
HP:0001257	HP:0002510	Spastic tetraplegia	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	429	21022	612035
HP:0001257	HP:0002501	Spasticity of pharyngeal muscles	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	429	21022	612035
HP:0001257	HP:0006986	Upper limb spasticity	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	429	21022	612035
HP:0001257	HP:0002491	Spasticity of facial muscles	1	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	1569	59	600509
HP:0001257	HP:0031866	Clasp-knife sign	1	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	1569	59	600509
HP:0001257	HP:0002061	Lower limb spasticity	1	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	1569	59	600509
HP:0001257	HP:0002179	Opisthotonus	1	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	1569	59	600509
HP:0001257	HP:0002191	Progressive spasticity	1	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	1569	59	600509
HP:0001257	HP:0001264	Spastic diplegia	1	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	1569	59	600509
HP:0001257	HP:0002464	Spastic dysarthria	1	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	1569	59	600509
HP:0001257	HP:0002064	Spastic gait	1	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	1569	59	600509
HP:0001257	HP:0011099	Spastic hemiparesis	1	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	1569	59	600509
HP:0001257	HP:0001285	Spastic tetraparesis	1	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	1569	59	600509
HP:0001257	HP:0002510	Spastic tetraplegia	1	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	1569	59	600509
HP:0001257	HP:0002501	Spasticity of pharyngeal muscles	1	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	1569	59	600509
HP:0001257	HP:0006986	Upper limb spasticity	1	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	1569	59	600509
HP:0001257	HP:0002491	Spasticity of facial muscles	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	430	15868	613599
HP:0001257	HP:0031866	Clasp-knife sign	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	430	15868	613599
HP:0001257	HP:0002061	Lower limb spasticity	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	430	15868	613599
HP:0001257	HP:0002179	Opisthotonus	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	430	15868	613599
HP:0001257	HP:0002191	Progressive spasticity	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	430	15868	613599
HP:0001257	HP:0001264	Spastic diplegia	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	430	15868	613599
HP:0001257	HP:0002464	Spastic dysarthria	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	430	15868	613599
HP:0001257	HP:0002064	Spastic gait	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	430	15868	613599
HP:0001257	HP:0011099	Spastic hemiparesis	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	430	15868	613599
HP:0001257	HP:0001285	Spastic tetraparesis	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	430	15868	613599
HP:0001257	HP:0002510	Spastic tetraplegia	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	430	15868	613599
HP:0001257	HP:0002501	Spasticity of pharyngeal muscles	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	430	15868	613599
HP:0001257	HP:0006986	Upper limb spasticity	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	430	15868	613599
HP:0001257	HP:0002491	Spasticity of facial muscles	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	49	16066	617036
HP:0001257	HP:0031866	Clasp-knife sign	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	49	16066	617036
HP:0001257	HP:0002061	Lower limb spasticity	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	49	16066	617036
HP:0001257	HP:0002179	Opisthotonus	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	49	16066	617036
HP:0001257	HP:0002191	Progressive spasticity	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	49	16066	617036
HP:0001257	HP:0001264	Spastic diplegia	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	49	16066	617036
HP:0001257	HP:0002464	Spastic dysarthria	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	49	16066	617036
HP:0001257	HP:0002064	Spastic gait	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	49	16066	617036
HP:0001257	HP:0011099	Spastic hemiparesis	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	49	16066	617036
HP:0001257	HP:0001285	Spastic tetraparesis	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	49	16066	617036
HP:0001257	HP:0002510	Spastic tetraplegia	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	49	16066	617036
HP:0001257	HP:0002501	Spasticity of pharyngeal muscles	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	49	16066	617036
HP:0001257	HP:0006986	Upper limb spasticity	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	49	16066	617036
HP:0001257	HP:0002491	Spasticity of facial muscles	1	ADAM22 CL E G H	53616	617933	Early infantile epileptic encephalopathy 61	617933	CN244550	OMIM	1	52	201	603709
HP:0001257	HP:0031866	Clasp-knife sign	1	ADAM22 CL E G H	53616	617933	Early infantile epileptic encephalopathy 61	617933	CN244550	OMIM	1	52	201	603709
HP:0001257	HP:0002061	Lower limb spasticity	1	ADAM22 CL E G H	53616	617933	Early infantile epileptic encephalopathy 61	617933	CN244550	OMIM	1	52	201	603709
HP:0001257	HP:0002179	Opisthotonus	1	ADAM22 CL E G H	53616	617933	Early infantile epileptic encephalopathy 61	617933	CN244550	OMIM	1	52	201	603709
HP:0001257	HP:0002191	Progressive spasticity	1	ADAM22 CL E G H	53616	617933	Early infantile epileptic encephalopathy 61	617933	CN244550	OMIM	1	52	201	603709
HP:0001257	HP:0001264	Spastic diplegia	1	ADAM22 CL E G H	53616	617933	Early infantile epileptic encephalopathy 61	617933	CN244550	OMIM	1	52	201	603709
HP:0001257	HP:0002464	Spastic dysarthria	1	ADAM22 CL E G H	53616	617933	Early infantile epileptic encephalopathy 61	617933	CN244550	OMIM	1	52	201	603709
HP:0001257	HP:0002064	Spastic gait	1	ADAM22 CL E G H	53616	617933	Early infantile epileptic encephalopathy 61	617933	CN244550	OMIM	1	52	201	603709
HP:0001257	HP:0011099	Spastic hemiparesis	1	ADAM22 CL E G H	53616	617933	Early infantile epileptic encephalopathy 61	617933	CN244550	OMIM	1	52	201	603709
HP:0001257	HP:0001285	Spastic tetraparesis	1	ADAM22 CL E G H	53616	617933	Early infantile epileptic encephalopathy 61	617933	CN244550	OMIM	1	52	201	603709
HP:0001257	HP:0002510	Spastic tetraplegia	1	ADAM22 CL E G H	53616	617933	Early infantile epileptic encephalopathy 61	617933	CN244550	OMIM	1	52	201	603709
HP:0001257	HP:0002501	Spasticity of pharyngeal muscles	1	ADAM22 CL E G H	53616	617933	Early infantile epileptic encephalopathy 61	617933	CN244550	OMIM	1	52	201	603709
HP:0001257	HP:0006986	Upper limb spasticity	1	ADAM22 CL E G H	53616	617933	Early infantile epileptic encephalopathy 61	617933	CN244550	OMIM	1	52	201	603709
HP:0001257	HP:0002491	Spasticity of facial muscles	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0001257	HP:0031866	Clasp-knife sign	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0001257	HP:0002061	Lower limb spasticity	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0001257	HP:0002179	Opisthotonus	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0001257	HP:0002191	Progressive spasticity	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0001257	HP:0001264	Spastic diplegia	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0001257	HP:0002464	Spastic dysarthria	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0001257	HP:0002064	Spastic gait	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0001257	HP:0011099	Spastic hemiparesis	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0001257	HP:0001285	Spastic tetraparesis	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0001257	HP:0002510	Spastic tetraplegia	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0001257	HP:0002501	Spasticity of pharyngeal muscles	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0001257	HP:0006986	Upper limb spasticity	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0001257	HP:0002491	Spasticity of facial muscles	1	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	413	318	613228
HP:0001257	HP:0031866	Clasp-knife sign	1	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	413	318	613228
HP:0001257	HP:0002061	Lower limb spasticity	1	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	413	318	613228
HP:0001257	HP:0002179	Opisthotonus	1	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	413	318	613228
HP:0001257	HP:0002191	Progressive spasticity	1	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	413	318	613228
HP:0001257	HP:0001264	Spastic diplegia	1	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	413	318	613228
HP:0001257	HP:0002464	Spastic dysarthria	1	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	413	318	613228
HP:0001257	HP:0002064	Spastic gait	1	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	413	318	613228
HP:0001257	HP:0011099	Spastic hemiparesis	1	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	413	318	613228
HP:0001257	HP:0001285	Spastic tetraparesis	1	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	413	318	613228
HP:0001257	HP:0002510	Spastic tetraplegia	1	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	413	318	613228
HP:0001257	HP:0002501	Spasticity of pharyngeal muscles	1	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	413	318	613228
HP:0001257	HP:0006986	Upper limb spasticity	1	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	413	318	613228
HP:0001257	HP:0002491	Spasticity of facial muscles	1	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	437	9722	138250
HP:0001257	HP:0031866	Clasp-knife sign	1	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	437	9722	138250
HP:0001257	HP:0002061	Lower limb spasticity	1	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	437	9722	138250
HP:0001257	HP:0002179	Opisthotonus	1	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	437	9722	138250
HP:0001257	HP:0002191	Progressive spasticity	1	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	437	9722	138250
HP:0001257	HP:0001264	Spastic diplegia	1	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	437	9722	138250
HP:0001257	HP:0002464	Spastic dysarthria	1	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	437	9722	138250
HP:0001257	HP:0002064	Spastic gait	1	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	437	9722	138250
HP:0001257	HP:0011099	Spastic hemiparesis	1	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	437	9722	138250
HP:0001257	HP:0001285	Spastic tetraparesis	1	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	437	9722	138250
HP:0001257	HP:0002510	Spastic tetraplegia	1	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	437	9722	138250
HP:0001257	HP:0002501	Spasticity of pharyngeal muscles	1	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	437	9722	138250
HP:0001257	HP:0006986	Upper limb spasticity	1	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	437	9722	138250
HP:0001257	HP:0002491	Spasticity of facial muscles	1	ALDH3A2 CL E G H	224	270200	Sjögren-Larsson syndrome	270200	C0037231	OMIM	1	538	403	609523
HP:0001257	HP:0031866	Clasp-knife sign	1	ALDH3A2 CL E G H	224	270200	Sjögren-Larsson syndrome	270200	C0037231	OMIM	1	538	403	609523
HP:0001257	HP:0002061	Lower limb spasticity	1	ALDH3A2 CL E G H	224	270200	Sjögren-Larsson syndrome	270200	C0037231	OMIM	1	538	403	609523
HP:0001257	HP:0002179	Opisthotonus	1	ALDH3A2 CL E G H	224	270200	Sjögren-Larsson syndrome	270200	C0037231	OMIM	1	538	403	609523
HP:0001257	HP:0002191	Progressive spasticity	1	ALDH3A2 CL E G H	224	270200	Sjögren-Larsson syndrome	270200	C0037231	OMIM	1	538	403	609523
HP:0001257	HP:0001264	Spastic diplegia	1	ALDH3A2 CL E G H	224	270200	Sjögren-Larsson syndrome	270200	C0037231	OMIM	1	538	403	609523
HP:0001257	HP:0002464	Spastic dysarthria	1	ALDH3A2 CL E G H	224	270200	Sjögren-Larsson syndrome	270200	C0037231	OMIM	1	538	403	609523
HP:0001257	HP:0002064	Spastic gait	1	ALDH3A2 CL E G H	224	270200	Sjögren-Larsson syndrome	270200	C0037231	OMIM	1	538	403	609523
HP:0001257	HP:0011099	Spastic hemiparesis	1	ALDH3A2 CL E G H	224	270200	Sjögren-Larsson syndrome	270200	C0037231	OMIM	1	538	403	609523
HP:0001257	HP:0001285	Spastic tetraparesis	1	ALDH3A2 CL E G H	224	270200	Sjögren-Larsson syndrome	270200	C0037231	OMIM	1	538	403	609523
HP:0001257	HP:0002510	Spastic tetraplegia	1	ALDH3A2 CL E G H	224	270200	Sjögren-Larsson syndrome	270200	C0037231	OMIM	1	538	403	609523
HP:0001257	HP:0002501	Spasticity of pharyngeal muscles	1	ALDH3A2 CL E G H	224	270200	Sjögren-Larsson syndrome	270200	C0037231	OMIM	1	538	403	609523
HP:0001257	HP:0006986	Upper limb spasticity	1	ALDH3A2 CL E G H	224	270200	Sjögren-Larsson syndrome	270200	C0037231	OMIM	1	538	403	609523
HP:0001257	HP:0002491	Spasticity of facial muscles	1	ALS2 CL E G H	57679	300605	Juvenile amyotrophic lateral sclerosis		CN239582	ORPHA	1	754	443	606352
HP:0001257	HP:0031866	Clasp-knife sign	1	ALS2 CL E G H	57679	300605	Juvenile amyotrophic lateral sclerosis		CN239582	ORPHA	1	754	443	606352
HP:0001257	HP:0002061	Lower limb spasticity	1	ALS2 CL E G H	57679	300605	Juvenile amyotrophic lateral sclerosis		CN239582	ORPHA	1	754	443	606352
HP:0001257	HP:0002179	Opisthotonus	1	ALS2 CL E G H	57679	300605	Juvenile amyotrophic lateral sclerosis		CN239582	ORPHA	1	754	443	606352
HP:0001257	HP:0002191	Progressive spasticity	1	ALS2 CL E G H	57679	300605	Juvenile amyotrophic lateral sclerosis		CN239582	ORPHA	1	754	443	606352
HP:0001257	HP:0001264	Spastic diplegia	1	ALS2 CL E G H	57679	300605	Juvenile amyotrophic lateral sclerosis		CN239582	ORPHA	1	754	443	606352
HP:0001257	HP:0002464	Spastic dysarthria	1	ALS2 CL E G H	57679	300605	Juvenile amyotrophic lateral sclerosis		CN239582	ORPHA	1	754	443	606352
HP:0001257	HP:0002064	Spastic gait	1	ALS2 CL E G H	57679	300605	Juvenile amyotrophic lateral sclerosis		CN239582	ORPHA	1	754	443	606352
HP:0001257	HP:0011099	Spastic hemiparesis	1	ALS2 CL E G H	57679	300605	Juvenile amyotrophic lateral sclerosis		CN239582	ORPHA	1	754	443	606352
HP:0001257	HP:0001285	Spastic tetraparesis	1	ALS2 CL E G H	57679	300605	Juvenile amyotrophic lateral sclerosis		CN239582	ORPHA	1	754	443	606352
HP:0001257	HP:0002510	Spastic tetraplegia	1	ALS2 CL E G H	57679	300605	Juvenile amyotrophic lateral sclerosis		CN239582	ORPHA	1	754	443	606352
HP:0001257	HP:0002501	Spasticity of pharyngeal muscles	1	ALS2 CL E G H	57679	300605	Juvenile amyotrophic lateral sclerosis		CN239582	ORPHA	1	754	443	606352
HP:0001257	HP:0006986	Upper limb spasticity	1	ALS2 CL E G H	57679	300605	Juvenile amyotrophic lateral sclerosis		CN239582	ORPHA	1	754	443	606352
HP:0001257	HP:0002491	Spasticity of facial muscles	1	AMACR CL E G H	23600	614307	Alpha-methylacyl-CoA racemase deficiency	614307	C3280428	OMIM	1	290	451	604489
HP:0001257	HP:0031866	Clasp-knife sign	1	AMACR CL E G H	23600	614307	Alpha-methylacyl-CoA racemase deficiency	614307	C3280428	OMIM	1	290	451	604489
HP:0001257	HP:0002061	Lower limb spasticity	1	AMACR CL E G H	23600	614307	Alpha-methylacyl-CoA racemase deficiency	614307	C3280428	OMIM	1	290	451	604489
HP:0001257	HP:0002179	Opisthotonus	1	AMACR CL E G H	23600	614307	Alpha-methylacyl-CoA racemase deficiency	614307	C3280428	OMIM	1	290	451	604489
HP:0001257	HP:0002191	Progressive spasticity	1	AMACR CL E G H	23600	614307	Alpha-methylacyl-CoA racemase deficiency	614307	C3280428	OMIM	1	290	451	604489
HP:0001257	HP:0001264	Spastic diplegia	1	AMACR CL E G H	23600	614307	Alpha-methylacyl-CoA racemase deficiency	614307	C3280428	OMIM	1	290	451	604489
HP:0001257	HP:0002464	Spastic dysarthria	1	AMACR CL E G H	23600	614307	Alpha-methylacyl-CoA racemase deficiency	614307	C3280428	OMIM	1	290	451	604489
HP:0001257	HP:0002064	Spastic gait	1	AMACR CL E G H	23600	614307	Alpha-methylacyl-CoA racemase deficiency	614307	C3280428	OMIM	1	290	451	604489
HP:0001257	HP:0011099	Spastic hemiparesis	1	AMACR CL E G H	23600	614307	Alpha-methylacyl-CoA racemase deficiency	614307	C3280428	OMIM	1	290	451	604489
HP:0001257	HP:0001285	Spastic tetraparesis	1	AMACR CL E G H	23600	614307	Alpha-methylacyl-CoA racemase deficiency	614307	C3280428	OMIM	1	290	451	604489
HP:0001257	HP:0002510	Spastic tetraplegia	1	AMACR CL E G H	23600	614307	Alpha-methylacyl-CoA racemase deficiency	614307	C3280428	OMIM	1	290	451	604489
HP:0001257	HP:0002501	Spasticity of pharyngeal muscles	1	AMACR CL E G H	23600	614307	Alpha-methylacyl-CoA racemase deficiency	614307	C3280428	OMIM	1	290	451	604489
HP:0001257	HP:0006986	Upper limb spasticity	1	AMACR CL E G H	23600	614307	Alpha-methylacyl-CoA racemase deficiency	614307	C3280428	OMIM	1	290	451	604489
HP:0001257	HP:0002491	Spasticity of facial muscles	1	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	276	469	102771
HP:0001257	HP:0031866	Clasp-knife sign	1	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	276	469	102771
HP:0001257	HP:0002061	Lower limb spasticity	1	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	276	469	102771
HP:0001257	HP:0002179	Opisthotonus	1	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	276	469	102771
HP:0001257	HP:0002191	Progressive spasticity	1	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	276	469	102771
HP:0001257	HP:0001264	Spastic diplegia	1	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	276	469	102771
HP:0001257	HP:0002464	Spastic dysarthria	1	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	276	469	102771
HP:0001257	HP:0002064	Spastic gait	1	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	276	469	102771
HP:0001257	HP:0011099	Spastic hemiparesis	1	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	276	469	102771
HP:0001257	HP:0001285	Spastic tetraparesis	1	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	276	469	102771
HP:0001257	HP:0002510	Spastic tetraplegia	1	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	276	469	102771
HP:0001257	HP:0002501	Spasticity of pharyngeal muscles	1	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	276	469	102771
HP:0001257	HP:0006986	Upper limb spasticity	1	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	276	469	102771
HP:0001257	HP:0002491	Spasticity of facial muscles	1	ANG CL E G H	283	803				ORPHA	1	97	483	105850
HP:0001257	HP:0031866	Clasp-knife sign	1	ANG CL E G H	283	803				ORPHA	1	97	483	105850
HP:0001257	HP:0002061	Lower limb spasticity	1	ANG CL E G H	283	803				ORPHA	1	97	483	105850
HP:0001257	HP:0002179	Opisthotonus	1	ANG CL E G H	283	803				ORPHA	1	97	483	105850
HP:0001257	HP:0002191	Progressive spasticity	1	ANG CL E G H	283	803				ORPHA	1	97	483	105850
HP:0001257	HP:0001264	Spastic diplegia	1	ANG CL E G H	283	803				ORPHA	1	97	483	105850
HP:0001257	HP:0002464	Spastic dysarthria	1	ANG CL E G H	283	803				ORPHA	1	97	483	105850
HP:0001257	HP:0002064	Spastic gait	1	ANG CL E G H	283	803				ORPHA	1	97	483	105850
HP:0001257	HP:0011099	Spastic hemiparesis	1	ANG CL E G H	283	803				ORPHA	1	97	483	105850
HP:0001257	HP:0001285	Spastic tetraparesis	1	ANG CL E G H	283	803				ORPHA	1	97	483	105850
HP:0001257	HP:0002510	Spastic tetraplegia	1	ANG CL E G H	283	803				ORPHA	1	97	483	105850
HP:0001257	HP:0002501	Spasticity of pharyngeal muscles	1	ANG CL E G H	283	803				ORPHA	1	97	483	105850
HP:0001257	HP:0006986	Upper limb spasticity	1	ANG CL E G H	283	803				ORPHA	1	97	483	105850
HP:0001257	HP:0002491	Spasticity of facial muscles	1	ANG CL E G H	283	611895	Amyotrophic lateral sclerosis type 9	611895	C2678468	OMIM	1	97	483	105850
HP:0001257	HP:0031866	Clasp-knife sign	1	ANG CL E G H	283	611895	Amyotrophic lateral sclerosis type 9	611895	C2678468	OMIM	1	97	483	105850
HP:0001257	HP:0002061	Lower limb spasticity	1	ANG CL E G H	283	611895	Amyotrophic lateral sclerosis type 9	611895	C2678468	OMIM	1	97	483	105850
HP:0001257	HP:0002179	Opisthotonus	1	ANG CL E G H	283	611895	Amyotrophic lateral sclerosis type 9	611895	C2678468	OMIM	1	97	483	105850
HP:0001257	HP:0002191	Progressive spasticity	1	ANG CL E G H	283	611895	Amyotrophic lateral sclerosis type 9	611895	C2678468	OMIM	1	97	483	105850
HP:0001257	HP:0001264	Spastic diplegia	1	ANG CL E G H	283	611895	Amyotrophic lateral sclerosis type 9	611895	C2678468	OMIM	1	97	483	105850
HP:0001257	HP:0002464	Spastic dysarthria	1	ANG CL E G H	283	611895	Amyotrophic lateral sclerosis type 9	611895	C2678468	OMIM	1	97	483	105850
HP:0001257	HP:0002064	Spastic gait	1	ANG CL E G H	283	611895	Amyotrophic lateral sclerosis type 9	611895	C2678468	OMIM	1	97	483	105850
HP:0001257	HP:0011099	Spastic hemiparesis	1	ANG CL E G H	283	611895	Amyotrophic lateral sclerosis type 9	611895	C2678468	OMIM	1	97	483	105850
HP:0001257	HP:0001285	Spastic tetraparesis	1	ANG CL E G H	283	611895	Amyotrophic lateral sclerosis type 9	611895	C2678468	OMIM	1	97	483	105850
HP:0001257	HP:0002510	Spastic tetraplegia	1	ANG CL E G H	283	611895	Amyotrophic lateral sclerosis type 9	611895	C2678468	OMIM	1	97	483	105850
HP:0001257	HP:0002501	Spasticity of pharyngeal muscles	1	ANG CL E G H	283	611895	Amyotrophic lateral sclerosis type 9	611895	C2678468	OMIM	1	97	483	105850
HP:0001257	HP:0006986	Upper limb spasticity	1	ANG CL E G H	283	611895	Amyotrophic lateral sclerosis type 9	611895	C2678468	OMIM	1	97	483	105850
HP:0001257	HP:0002491	Spasticity of facial muscles	1	ANK3 CL E G H	288	615493	Mental retardation, autosomal recessive 37	615493	C3809672	OMIM	1	615	494	600465
HP:0001257	HP:0031866	Clasp-knife sign	1	ANK3 CL E G H	288	615493	Mental retardation, autosomal recessive 37	615493	C3809672	OMIM	1	615	494	600465
HP:0001257	HP:0002061	Lower limb spasticity	1	ANK3 CL E G H	288	615493	Mental retardation, autosomal recessive 37	615493	C3809672	OMIM	1	615	494	600465
HP:0001257	HP:0002179	Opisthotonus	1	ANK3 CL E G H	288	615493	Mental retardation, autosomal recessive 37	615493	C3809672	OMIM	1	615	494	600465
HP:0001257	HP:0002191	Progressive spasticity	1	ANK3 CL E G H	288	615493	Mental retardation, autosomal recessive 37	615493	C3809672	OMIM	1	615	494	600465
HP:0001257	HP:0001264	Spastic diplegia	1	ANK3 CL E G H	288	615493	Mental retardation, autosomal recessive 37	615493	C3809672	OMIM	1	615	494	600465
HP:0001257	HP:0002464	Spastic dysarthria	1	ANK3 CL E G H	288	615493	Mental retardation, autosomal recessive 37	615493	C3809672	OMIM	1	615	494	600465
HP:0001257	HP:0002064	Spastic gait	1	ANK3 CL E G H	288	615493	Mental retardation, autosomal recessive 37	615493	C3809672	OMIM	1	615	494	600465
HP:0001257	HP:0011099	Spastic hemiparesis	1	ANK3 CL E G H	288	615493	Mental retardation, autosomal recessive 37	615493	C3809672	OMIM	1	615	494	600465
HP:0001257	HP:0001285	Spastic tetraparesis	1	ANK3 CL E G H	288	615493	Mental retardation, autosomal recessive 37	615493	C3809672	OMIM	1	615	494	600465
HP:0001257	HP:0002510	Spastic tetraplegia	1	ANK3 CL E G H	288	615493	Mental retardation, autosomal recessive 37	615493	C3809672	OMIM	1	615	494	600465
HP:0001257	HP:0002501	Spasticity of pharyngeal muscles	1	ANK3 CL E G H	288	615493	Mental retardation, autosomal recessive 37	615493	C3809672	OMIM	1	615	494	600465
HP:0001257	HP:0006986	Upper limb spasticity	1	ANK3 CL E G H	288	615493	Mental retardation, autosomal recessive 37	615493	C3809672	OMIM	1	615	494	600465
HP:0001257	HP:0002491	Spasticity of facial muscles	1	ANXA11 CL E G H	311	803				ORPHA	1	201	535	602572
HP:0001257	HP:0031866	Clasp-knife sign	1	ANXA11 CL E G H	311	803				ORPHA	1	201	535	602572
HP:0001257	HP:0002061	Lower limb spasticity	1	ANXA11 CL E G H	311	803				ORPHA	1	201	535	602572
HP:0001257	HP:0002179	Opisthotonus	1	ANXA11 CL E G H	311	803				ORPHA	1	201	535	602572
HP:0001257	HP:0002191	Progressive spasticity	1	ANXA11 CL E G H	311	803				ORPHA	1	201	535	602572
HP:0001257	HP:0001264	Spastic diplegia	1	ANXA11 CL E G H	311	803				ORPHA	1	201	535	602572
HP:0001257	HP:0002464	Spastic dysarthria	1	ANXA11 CL E G H	311	803				ORPHA	1	201	535	602572
HP:0001257	HP:0002064	Spastic gait	1	ANXA11 CL E G H	311	803				ORPHA	1	201	535	602572
HP:0001257	HP:0011099	Spastic hemiparesis	1	ANXA11 CL E G H	311	803				ORPHA	1	201	535	602572
HP:0001257	HP:0001285	Spastic tetraparesis	1	ANXA11 CL E G H	311	803				ORPHA	1	201	535	602572
HP:0001257	HP:0002510	Spastic tetraplegia	1	ANXA11 CL E G H	311	803				ORPHA	1	201	535	602572
HP:0001257	HP:0002501	Spasticity of pharyngeal muscles	1	ANXA11 CL E G H	311	803				ORPHA	1	201	535	602572
HP:0001257	HP:0006986	Upper limb spasticity	1	ANXA11 CL E G H	311	803				ORPHA	1	201	535	602572
HP:0001257	HP:0002491	Spasticity of facial muscles	1	AP1S2 CL E G H	8905	304340	Pettigrew syndrome	304340	C0796254	OMIM	1	218	560	300629
HP:0001257	HP:0031866	Clasp-knife sign	1	AP1S2 CL E G H	8905	304340	Pettigrew syndrome	304340	C0796254	OMIM	1	218	560	300629
HP:0001257	HP:0002061	Lower limb spasticity	1	AP1S2 CL E G H	8905	304340	Pettigrew syndrome	304340	C0796254	OMIM	1	218	560	300629
HP:0001257	HP:0002179	Opisthotonus	1	AP1S2 CL E G H	8905	304340	Pettigrew syndrome	304340	C0796254	OMIM	1	218	560	300629
HP:0001257	HP:0002191	Progressive spasticity	1	AP1S2 CL E G H	8905	304340	Pettigrew syndrome	304340	C0796254	OMIM	1	218	560	300629
HP:0001257	HP:0001264	Spastic diplegia	1	AP1S2 CL E G H	8905	304340	Pettigrew syndrome	304340	C0796254	OMIM	1	218	560	300629
HP:0001257	HP:0002464	Spastic dysarthria	1	AP1S2 CL E G H	8905	304340	Pettigrew syndrome	304340	C0796254	OMIM	1	218	560	300629
HP:0001257	HP:0002064	Spastic gait	1	AP1S2 CL E G H	8905	304340	Pettigrew syndrome	304340	C0796254	OMIM	1	218	560	300629
HP:0001257	HP:0011099	Spastic hemiparesis	1	AP1S2 CL E G H	8905	304340	Pettigrew syndrome	304340	C0796254	OMIM	1	218	560	300629
HP:0001257	HP:0001285	Spastic tetraparesis	1	AP1S2 CL E G H	8905	304340	Pettigrew syndrome	304340	C0796254	OMIM	1	218	560	300629
HP:0001257	HP:0002510	Spastic tetraplegia	1	AP1S2 CL E G H	8905	304340	Pettigrew syndrome	304340	C0796254	OMIM	1	218	560	300629
HP:0001257	HP:0002501	Spasticity of pharyngeal muscles	1	AP1S2 CL E G H	8905	304340	Pettigrew syndrome	304340	C0796254	OMIM	1	218	560	300629
HP:0001257	HP:0006986	Upper limb spasticity	1	AP1S2 CL E G H	8905	304340	Pettigrew syndrome	304340	C0796254	OMIM	1	218	560	300629
HP:0001257	HP:0002491	Spasticity of facial muscles	1	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1	300	572	607245
HP:0001257	HP:0031866	Clasp-knife sign	1	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1	300	572	607245
HP:0001257	HP:0002061	Lower limb spasticity	1	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1	300	572	607245
HP:0001257	HP:0002179	Opisthotonus	1	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1	300	572	607245
HP:0001257	HP:0002191	Progressive spasticity	1	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1	300	572	607245
HP:0001257	HP:0001264	Spastic diplegia	1	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1	300	572	607245
HP:0001257	HP:0002464	Spastic dysarthria	1	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1	300	572	607245
HP:0001257	HP:0002064	Spastic gait	1	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1	300	572	607245
HP:0001257	HP:0011099	Spastic hemiparesis	1	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1	300	572	607245
HP:0001257	HP:0001285	Spastic tetraparesis	1	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1	300	572	607245
HP:0001257	HP:0002510	Spastic tetraplegia	1	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1	300	572	607245
HP:0001257	HP:0002501	Spasticity of pharyngeal muscles	1	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1	300	572	607245
HP:0001257	HP:0006986	Upper limb spasticity	1	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1	300	572	607245
HP:0001257	HP:0002491	Spasticity of facial muscles	1	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	122	575	607243
HP:0001257	HP:0031866	Clasp-knife sign	1	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	122	575	607243
HP:0001257	HP:0002061	Lower limb spasticity	1	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	122	575	607243
HP:0001257	HP:0002179	Opisthotonus	1	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	122	575	607243
HP:0001257	HP:0002191	Progressive spasticity	1	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	122	575	607243
HP:0001257	HP:0001264	Spastic diplegia	1	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	122	575	607243
HP:0001257	HP:0002464	Spastic dysarthria	1	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	122	575	607243
HP:0001257	HP:0002064	Spastic gait	1	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	122	575	607243
HP:0001257	HP:0011099	Spastic hemiparesis	1	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	122	575	607243
HP:0001257	HP:0001285	Spastic tetraparesis	1	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	122	575	607243
HP:0001257	HP:0002510	Spastic tetraplegia	1	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	122	575	607243
HP:0001257	HP:0002501	Spasticity of pharyngeal muscles	1	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	122	575	607243
HP:0001257	HP:0006986	Upper limb spasticity	1	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	122	575	607243
HP:0001257	HP:0002491	Spasticity of facial muscles	1	ARF1 CL E G H	375	618185	PERIVENTRICULAR NODULAR HETEROTOPIA 8	618185		OMIM	1	62	652	103180
HP:0001257	HP:0031866	Clasp-knife sign	1	ARF1 CL E G H	375	618185	PERIVENTRICULAR NODULAR HETEROTOPIA 8	618185		OMIM	1	62	652	103180
HP:0001257	HP:0002061	Lower limb spasticity	1	ARF1 CL E G H	375	618185	PERIVENTRICULAR NODULAR HETEROTOPIA 8	618185		OMIM	1	62	652	103180
HP:0001257	HP:0002179	Opisthotonus	1	ARF1 CL E G H	375	618185	PERIVENTRICULAR NODULAR HETEROTOPIA 8	618185		OMIM	1	62	652	103180
HP:0001257	HP:0002191	Progressive spasticity	1	ARF1 CL E G H	375	618185	PERIVENTRICULAR NODULAR HETEROTOPIA 8	618185		OMIM	1	62	652	103180
HP:0001257	HP:0001264	Spastic diplegia	1	ARF1 CL E G H	375	618185	PERIVENTRICULAR NODULAR HETEROTOPIA 8	618185		OMIM	1	62	652	103180
HP:0001257	HP:0002464	Spastic dysarthria	1	ARF1 CL E G H	375	618185	PERIVENTRICULAR NODULAR HETEROTOPIA 8	618185		OMIM	1	62	652	103180
HP:0001257	HP:0002064	Spastic gait	1	ARF1 CL E G H	375	618185	PERIVENTRICULAR NODULAR HETEROTOPIA 8	618185		OMIM	1	62	652	103180
HP:0001257	HP:0011099	Spastic hemiparesis	1	ARF1 CL E G H	375	618185	PERIVENTRICULAR NODULAR HETEROTOPIA 8	618185		OMIM	1	62	652	103180
HP:0001257	HP:0001285	Spastic tetraparesis	1	ARF1 CL E G H	375	618185	PERIVENTRICULAR NODULAR HETEROTOPIA 8	618185		OMIM	1	62	652	103180
HP:0001257	HP:0002510	Spastic tetraplegia	1	ARF1 CL E G H	375	618185	PERIVENTRICULAR NODULAR HETEROTOPIA 8	618185		OMIM	1	62	652	103180
HP:0001257	HP:0002501	Spasticity of pharyngeal muscles	1	ARF1 CL E G H	375	618185	PERIVENTRICULAR NODULAR HETEROTOPIA 8	618185		OMIM	1	62	652	103180
HP:0001257	HP:0006986	Upper limb spasticity	1	ARF1 CL E G H	375	618185	PERIVENTRICULAR NODULAR HETEROTOPIA 8	618185		OMIM	1	62	652	103180
HP:0001257	HP:0002491	Spasticity of facial muscles	1	ARNT2 CL E G H	9915	615926	Webb-Dattani syndrome	615926	C4014708	OMIM	1	111	16876	606036
HP:0001257	HP:0031866	Clasp-knife sign	1	ARNT2 CL E G H	9915	615926	Webb-Dattani syndrome	615926	C4014708	OMIM	1	111	16876	606036
HP:0001257	HP:0002061	Lower limb spasticity	1	ARNT2 CL E G H	9915	615926	Webb-Dattani syndrome	615926	C4014708	OMIM	1	111	16876	606036
HP:0001257	HP:0002179	Opisthotonus	1	ARNT2 CL E G H	9915	615926	Webb-Dattani syndrome	615926	C4014708	OMIM	1	111	16876	606036
HP:0001257	HP:0002191	Progressive spasticity	1	ARNT2 CL E G H	9915	615926	Webb-Dattani syndrome	615926	C4014708	OMIM	1	111	16876	606036
HP:0001257	HP:0001264	Spastic diplegia	1	ARNT2 CL E G H	9915	615926	Webb-Dattani syndrome	615926	C4014708	OMIM	1	111	16876	606036
HP:0001257	HP:0002464	Spastic dysarthria	1	ARNT2 CL E G H	9915	615926	Webb-Dattani syndrome	615926	C4014708	OMIM	1	111	16876	606036
HP:0001257	HP:0002064	Spastic gait	1	ARNT2 CL E G H	9915	615926	Webb-Dattani syndrome	615926	C4014708	OMIM	1	111	16876	606036
HP:0001257	HP:0011099	Spastic hemiparesis	1	ARNT2 CL E G H	9915	615926	Webb-Dattani syndrome	615926	C4014708	OMIM	1	111	16876	606036
HP:0001257	HP:0001285	Spastic tetraparesis	1	ARNT2 CL E G H	9915	615926	Webb-Dattani syndrome	615926	C4014708	OMIM	1	111	16876	606036
HP:0001257	HP:0002510	Spastic tetraplegia	1	ARNT2 CL E G H	9915	615926	Webb-Dattani syndrome	615926	C4014708	OMIM	1	111	16876	606036
HP:0001257	HP:0002501	Spasticity of pharyngeal muscles	1	ARNT2 CL E G H	9915	615926	Webb-Dattani syndrome	615926	C4014708	OMIM	1	111	16876	606036
HP:0001257	HP:0006986	Upper limb spasticity	1	ARNT2 CL E G H	9915	615926	Webb-Dattani syndrome	615926	C4014708	OMIM	1	111	16876	606036
HP:0001257	HP:0002491	Spasticity of facial muscles	1	ARX CL E G H	170302	2508				ORPHA	1	679	18060	300382
HP:0001257	HP:0031866	Clasp-knife sign	1	ARX CL E G H	170302	2508				ORPHA	1	679	18060	300382
HP:0001257	HP:0002061	Lower limb spasticity	1	ARX CL E G H	170302	2508				ORPHA	1	679	18060	300382
HP:0001257	HP:0002179	Opisthotonus	1	ARX CL E G H	170302	2508				ORPHA	1	679	18060	300382
HP:0001257	HP:0002191	Progressive spasticity	1	ARX CL E G H	170302	2508				ORPHA	1	679	18060	300382
HP:0001257	HP:0001264	Spastic diplegia	1	ARX CL E G H	170302	2508				ORPHA	1	679	18060	300382
HP:0001257	HP:0002464	Spastic dysarthria	1	ARX CL E G H	170302	2508				ORPHA	1	679	18060	300382
HP:0001257	HP:0002064	Spastic gait	1	ARX CL E G H	170302	2508				ORPHA	1	679	18060	300382
HP:0001257	HP:0011099	Spastic hemiparesis	1	ARX CL E G H	170302	2508				ORPHA	1	679	18060	300382
HP:0001257	HP:0001285	Spastic tetraparesis	1	ARX CL E G H	170302	2508				ORPHA	1	679	18060	300382
HP:0001257	HP:0002510	Spastic tetraplegia	1	ARX CL E G H	170302	2508				ORPHA	1	679	18060	300382
HP:0001257	HP:0002501	Spasticity of pharyngeal muscles	1	ARX CL E G H	170302	2508				ORPHA	1	679	18060	300382
HP:0001257	HP:0006986	Upper limb spasticity	1	ARX CL E G H	170302	2508				ORPHA	1	679	18060	300382
HP:0001257	HP:0002491	Spasticity of facial muscles	1	ARX CL E G H	170302	3175				ORPHA	1	679	18060	300382
HP:0001257	HP:0031866	Clasp-knife sign	1	ARX CL E G H	170302	3175				ORPHA	1	679	18060	300382
HP:0001257	HP:0002061	Lower limb spasticity	1	ARX CL E G H	170302	3175				ORPHA	1	679	18060	300382
HP:0001257	HP:0002179	Opisthotonus	1	ARX CL E G H	170302	3175				ORPHA	1	679	18060	300382
HP:0001257	HP:0002191	Progressive spasticity	1	ARX CL E G H	170302	3175				ORPHA	1	679	18060	300382
HP:0001257	HP:0001264	Spastic diplegia	1	ARX CL E G H	170302	3175				ORPHA	1	679	18060	300382
HP:0001257	HP:0002464	Spastic dysarthria	1	ARX CL E G H	170302	3175				ORPHA	1	679	18060	300382
HP:0001257	HP:0002064	Spastic gait	1	ARX CL E G H	170302	3175				ORPHA	1	679	18060	300382
HP:0001257	HP:0011099	Spastic hemiparesis	1	ARX CL E G H	170302	3175				ORPHA	1	679	18060	300382
HP:0001257	HP:0001285	Spastic tetraparesis	1	ARX CL E G H	170302	3175				ORPHA	1	679	18060	300382
HP:0001257	HP:0002510	Spastic tetraplegia	1	ARX CL E G H	170302	3175				ORPHA	1	679	18060	300382
HP:0001257	HP:0002501	Spasticity of pharyngeal muscles	1	ARX CL E G H	170302	3175				ORPHA	1	679	18060	300382
HP:0001257	HP:0006986	Upper limb spasticity	1	ARX CL E G H	170302	3175				ORPHA	1	679	18060	300382
HP:0001257	HP:0002491	Spasticity of facial muscles	1	ARX CL E G H	170302	308350	Epileptic encephalopathy, early infantile, 1	308350	C3463992	OMIM	1	679	18060	300382
HP:0001257	HP:0031866	Clasp-knife sign	1	ARX CL E G H	170302	308350	Epileptic encephalopathy, early infantile, 1	308350	C3463992	OMIM	1	679	18060	300382
HP:0001257	HP:0002061	Lower limb spasticity	1