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:0001252	HP:0001252	Hypotonia	0	A2ML1 CL E G H	144568	648				ORPHA	1	789	23336	610627
HP:0001252	HP:0001252	Hypotonia	0	A2ML1 CL E G H	144568	648				ORPHA	1	916	23336	610627
HP:0001252	HP:0001252	Hypotonia	0	AASS CL E G H	10157	238700	Hyperlysinemia	238700	C0268553	OMIM	1	97	17366	605113
HP:0001252	HP:0001252	Hypotonia	0	AASS CL E G H	10157	238700	Hyperlysinemia	238700	C0268553	OMIM	1	108	17366	605113
HP:0001252	HP:0001252	Hypotonia	0	ACAD8 CL E G H	27034	611283	Deficiency of isobutyryl-CoA dehydrogenase	611283	C1969809	OMIM	1	269	87	604773
HP:0001252	HP:0001252	Hypotonia	0	ACAD8 CL E G H	27034	611283	Deficiency of isobutyryl-CoA dehydrogenase	611283	C1969809	OMIM	1	291	87	604773
HP:0001252	HP:0001252	Hypotonia	0	ACADM CL E G H	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	201450	C0220710	OMIM	1	491	89	607008
HP:0001252	HP:0001252	Hypotonia	0	ACADM CL E G H	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	201450	C0220710	OMIM	1	559	89	607008
HP:0001252	HP:0001252	Hypotonia	0	ACADS CL E G H	35	201470	Deficiency of butyryl-CoA dehydrogenase	201470	C0342783	OMIM	1	262	90	606885
HP:0001252	HP:0001252	Hypotonia	0	ACADS CL E G H	35	201470	Deficiency of butyryl-CoA dehydrogenase	201470	C0342783	OMIM	1	294	90	606885
HP:0001252	HP:0001252	Hypotonia	0	ACADSB CL E G H	36	610006	Deficiency of 2-methylbutyryl-CoA dehydrogenase	610006	C1864912	OMIM	1	275	91	600301
HP:0001252	HP:0001252	Hypotonia	0	ACADSB CL E G H	36	610006	Deficiency of 2-methylbutyryl-CoA dehydrogenase	610006	C1864912	OMIM	1	290	91	600301
HP:0001252	HP:0001252	Hypotonia	0	ACADVL CL E G H	37	201475	Very long chain acyl-CoA dehydrogenase deficiency	201475	C3887523	OMIM	1	978	92	609575
HP:0001252	HP:0001252	Hypotonia	0	ACADVL CL E G H	37	201475	Very long chain acyl-CoA dehydrogenase deficiency	201475	C3887523	OMIM	1	1116	92	609575
HP:0001252	HP:0001252	Hypotonia	0	ACOX1 CL E G H	51	2971				ORPHA	1	388	119	609751
HP:0001252	HP:0001252	Hypotonia	0	ACOX1 CL E G H	51	2971				ORPHA	1	435	119	609751
HP:0001252	HP:0001252	Hypotonia	0	ACP2 CL E G H	53	200950	Acid phosphatase deficiency	200950	C0268410	OMIM	1	25	123	171650
HP:0001252	HP:0001252	Hypotonia	0	ACP2 CL E G H	53	200950	Acid phosphatase deficiency	200950	C0268410	OMIM	1	27	123	171650
HP:0001252	HP:0001252	Hypotonia	0	ACSL4 CL E G H	2182	86818				ORPHA	1	233	3571	300157
HP:0001252	HP:0001252	Hypotonia	0	ACSL4 CL E G H	2182	86818				ORPHA	1	239	3571	300157
HP:0001252	HP:0001252	Hypotonia	0	ACTA1 CL E G H	58	2020				ORPHA	1	325	129	102610
HP:0001252	HP:0001252	Hypotonia	0	ACTA1 CL E G H	58	2020				ORPHA	1	362	129	102610
HP:0001252	HP:0001252	Hypotonia	0	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	322	132	102630
HP:0001252	HP:0001252	Hypotonia	0	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	349	132	102630
HP:0001252	HP:0001252	Hypotonia	0	ACY1 CL E G H	95	137754				ORPHA	1	63	177	104620
HP:0001252	HP:0001252	Hypotonia	0	ACY1 CL E G H	95	137754				ORPHA	1	78	177	104620
HP:0001252	HP:0001252	Hypotonia	0	ACY1 CL E G H	95	609924	Aminoacylase 1 deficiency	609924	C1835922	OMIM	1	63	177	104620
HP:0001252	HP:0001252	Hypotonia	0	ACY1 CL E G H	95	609924	Aminoacylase 1 deficiency	609924	C1835922	OMIM	1	78	177	104620
HP:0001252	HP:0001252	Hypotonia	0	ADAMTS2 CL E G H	9509	1901				ORPHA	1	920	218	604539
HP:0001252	HP:0001252	Hypotonia	0	ADAMTS2 CL E G H	9509	1901				ORPHA	1	1000	218	604539
HP:0001252	HP:0001252	Hypotonia	0	ADCY6 CL E G H	112	2680				ORPHA	1	68	237	600294
HP:0001252	HP:0001252	Hypotonia	0	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	330	318	613228
HP:0001252	HP:0001252	Hypotonia	0	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	355	318	613228
HP:0001252	HP:0001252	Hypotonia	0	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	220	21869	610345
HP:0001252	HP:0001252	Hypotonia	0	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	236	21869	610345
HP:0001252	HP:0001252	Hypotonia	0	AHI1 CL E G H	54806	220493				ORPHA	1	650	21575	608894
HP:0001252	HP:0001252	Hypotonia	0	AHI1 CL E G H	54806	220493				ORPHA	1	827	21575	608894
HP:0001252	HP:0001252	Hypotonia	0	AHI1 CL E G H	54806	475	Acquired hypoprothrombinemia			ORPHA	1	650	21575	608894
HP:0001252	HP:0001252	Hypotonia	0	AHI1 CL E G H	54806	475	Acquired hypoprothrombinemia			ORPHA	1	827	21575	608894
HP:0001252	HP:0001252	Hypotonia	0	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	650	21575	608894
HP:0001252	HP:0001252	Hypotonia	0	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	827	21575	608894
HP:0001252	HP:0001252	Hypotonia	0	AHSG CL E G H	197	2850				ORPHA	1	61	349	138680
HP:0001252	HP:0001252	Hypotonia	0	AIPL1 CL E G H	23746	65				ORPHA	1	315	359	604392
HP:0001252	HP:0001252	Hypotonia	0	AIPL1 CL E G H	23746	65				ORPHA	1	374	359	604392
HP:0001252	HP:0001252	Hypotonia	0	ALDH18A1 CL E G H	5832	219150	Cutis laxa-corneal clouding-oligophrenia syndrome	219150	C0268354	OMIM	1	346	9722	138250
HP:0001252	HP:0001252	Hypotonia	0	ALDH18A1 CL E G H	5832	219150	Cutis laxa-corneal clouding-oligophrenia syndrome	219150	C0268354	OMIM	1	392	9722	138250
HP:0001252	HP:0001252	Hypotonia	0	ALDH5A1 CL E G H	7915	22	AFib amyloidosis		CN244920	ORPHA	1	472	408	610045
HP:0001252	HP:0001252	Hypotonia	0	ALDH5A1 CL E G H	7915	22	AFib amyloidosis		CN244920	ORPHA	1	537	408	610045
HP:0001252	HP:0001252	Hypotonia	0	ALDH5A1 CL E G H	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	271980	C0268631	OMIM	1	472	408	610045
HP:0001252	HP:0001252	Hypotonia	0	ALDH5A1 CL E G H	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	271980	C0268631	OMIM	1	537	408	610045
HP:0001252	HP:0001252	Hypotonia	0	ALDH7A1 CL E G H	501	3006				ORPHA	1	619	877	107323
HP:0001252	HP:0001252	Hypotonia	0	ALDH7A1 CL E G H	501	3006				ORPHA	1	696	877	107323
HP:0001252	HP:0001252	Hypotonia	0	ALDH7A1 CL E G H	501	266100	Pyridoxine-dependent epilepsy	266100	C1849508	OMIM	1	619	877	107323
HP:0001252	HP:0001252	Hypotonia	0	ALDH7A1 CL E G H	501	266100	Pyridoxine-dependent epilepsy	266100	C1849508	OMIM	1	696	877	107323
HP:0001252	HP:0001252	Hypotonia	0	ALG1 CL E G H	56052	608540	Congenital disorder of glycosylation type 1K	608540	C2931005	OMIM	1	260	18294	605907
HP:0001252	HP:0001252	Hypotonia	0	ALG1 CL E G H	56052	608540	Congenital disorder of glycosylation type 1K	608540	C2931005	OMIM	1	391	18294	605907
HP:0001252	HP:0001252	Hypotonia	0	ALG12 CL E G H	79087	79324				ORPHA	1	302	19358	607144
HP:0001252	HP:0001252	Hypotonia	0	ALG12 CL E G H	79087	79324				ORPHA	1	390	19358	607144
HP:0001252	HP:0001252	Hypotonia	0	ALG3 CL E G H	10195	79321				ORPHA	1	159	23056	608750
HP:0001252	HP:0001252	Hypotonia	0	ALG3 CL E G H	10195	79321				ORPHA	1	166	23056	608750
HP:0001252	HP:0001252	Hypotonia	0	ALG6 CL E G H	29929	79320				ORPHA	1	314	23157	604566
HP:0001252	HP:0001252	Hypotonia	0	ALG6 CL E G H	29929	79320				ORPHA	1	404	23157	604566
HP:0001252	HP:0001252	Hypotonia	0	ALG9 CL E G H	79796	79328				ORPHA	1	212	15672	606941
HP:0001252	HP:0001252	Hypotonia	0	ALG9 CL E G H	79796	79328				ORPHA	1	222	15672	606941
HP:0001252	HP:0001252	Hypotonia	0	ALPL CL E G H	249	241500	Infantile hypophosphatasia	241500	C0268412	OMIM	1	575	438	171760
HP:0001252	HP:0001252	Hypotonia	0	ALPL CL E G H	249	241500	Infantile hypophosphatasia	241500	C0268412	OMIM	1	671	438	171760
HP:0001252	HP:0001252	Hypotonia	0	AMMECR1 CL E G H	9949	86818				ORPHA	1	192	467	300195
HP:0001252	HP:0001252	Hypotonia	0	AMMECR1 CL E G H	9949	86818				ORPHA	1	196	467	300195
HP:0001252	HP:0001252	Hypotonia	0	AMT CL E G H	275	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	321	473	238310
HP:0001252	HP:0001252	Hypotonia	0	AMT CL E G H	275	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	382	473	238310
HP:0001252	HP:0001252	Hypotonia	0	ANTXR2 CL E G H	118429	2176	Epimetaphyseal skeletal dysplasia			ORPHA	1	247	21732	608041
HP:0001252	HP:0001252	Hypotonia	0	ANTXR2 CL E G H	118429	2176	Epimetaphyseal skeletal dysplasia			ORPHA	1	253	21732	608041
HP:0001252	HP:0001252	Hypotonia	0	AP1S2 CL E G H	8905	85335				ORPHA	1	216	560	300629
HP:0001252	HP:0001252	Hypotonia	0	AP1S2 CL E G H	8905	85335				ORPHA	1	219	560	300629
HP:0001252	HP:0001252	Hypotonia	0	APC2 CL E G H	10297	821				ORPHA	1	179	24036	612034
HP:0001252	HP:0001252	Hypotonia	0	APC2 CL E G H	10297	821				ORPHA	1	194	24036	612034
HP:0001252	HP:0001252	Hypotonia	0	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	125	20492	616003
HP:0001252	HP:0001252	Hypotonia	0	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	129	20492	616003
HP:0001252	HP:0001252	Hypotonia	0	AR CL E G H	367	481				ORPHA	1	479	644	313700
HP:0001252	HP:0001252	Hypotonia	0	AR CL E G H	367	481				ORPHA	1	525	644	313700
HP:0001252	HP:0001252	Hypotonia	0	ARHGAP31 CL E G H	57514	100300	Adams-Oliver syndrome 1	100300	CN028867	OMIM	1	174	29216	610911
HP:0001252	HP:0001252	Hypotonia	0	ARHGAP31 CL E G H	57514	100300	Adams-Oliver syndrome 1	100300	CN028867	OMIM	1	210	29216	610911
HP:0001252	HP:0001252	Hypotonia	0	ARID1A CL E G H	8289	1465				ORPHA	1	383	11110	603024
HP:0001252	HP:0001252	Hypotonia	0	ARID1A CL E G H	8289	1465				ORPHA	1	442	11110	603024
HP:0001252	HP:0001252	Hypotonia	0	ARID1B CL E G H	57492	1465				ORPHA	1	866	18040	614556
HP:0001252	HP:0001252	Hypotonia	0	ARID1B CL E G H	57492	1465				ORPHA	1	958	18040	614556
HP:0001252	HP:0001252	Hypotonia	0	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	866	18040	614556
HP:0001252	HP:0001252	Hypotonia	0	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	958	18040	614556
HP:0001252	HP:0001252	Hypotonia	0	ARID2 CL E G H	196528	1465				ORPHA	1	179	18037	609539
HP:0001252	HP:0001252	Hypotonia	0	ARID2 CL E G H	196528	1465				ORPHA	1	186	18037	609539
HP:0001252	HP:0001252	Hypotonia	0	ARL13B CL E G H	200894	475	Acquired hypoprothrombinemia			ORPHA	1	184	25419	608922
HP:0001252	HP:0001252	Hypotonia	0	ARL13B CL E G H	200894	475	Acquired hypoprothrombinemia			ORPHA	1	222	25419	608922
HP:0001252	HP:0001252	Hypotonia	0	ARL13B CL E G H	200894	612291	Joubert syndrome 8	612291	C2676771	OMIM	1	184	25419	608922
HP:0001252	HP:0001252	Hypotonia	0	ARL13B CL E G H	200894	612291	Joubert syndrome 8	612291	C2676771	OMIM	1	222	25419	608922
HP:0001252	HP:0001252	Hypotonia	0	ARL3 CL E G H	403	475	Acquired hypoprothrombinemia			ORPHA	1	64	694	604695
HP:0001252	HP:0001252	Hypotonia	0	ARL3 CL E G H	403	475	Acquired hypoprothrombinemia			ORPHA	1	90	694	604695
HP:0001252	HP:0001252	Hypotonia	0	ARMC9 CL E G H	80210	475	Acquired hypoprothrombinemia			ORPHA	1	251	20730	617612
HP:0001252	HP:0001252	Hypotonia	0	ARMC9 CL E G H	80210	475	Acquired hypoprothrombinemia			ORPHA	1	380	20730	617612
HP:0001252	HP:0001252	Hypotonia	0	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	732	713	607574
HP:0001252	HP:0001252	Hypotonia	0	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	841	713	607574
HP:0001252	HP:0001252	Hypotonia	0	ARVCF CL E G H	421	567				ORPHA	1	544	728	602269
HP:0001252	HP:0001252	Hypotonia	0	ARVCF CL E G H	421	567				ORPHA	1	550	728	602269
HP:0001252	HP:0001252	Hypotonia	0	ARX CL E G H	170302	452				ORPHA	1	565	18060	300382
HP:0001252	HP:0001252	Hypotonia	0	ARX CL E G H	170302	452				ORPHA	1	624	18060	300382
HP:0001252	HP:0001252	Hypotonia	0	ARX CL E G H	170302	300215	Lissencephaly 2, X-linked	300215	C1846171	OMIM	1	565	18060	300382
HP:0001252	HP:0001252	Hypotonia	0	ARX CL E G H	170302	300215	Lissencephaly 2, X-linked	300215	C1846171	OMIM	1	624	18060	300382
HP:0001252	HP:0001252	Hypotonia	0	ASCL1 CL E G H	429	99803	Haddad syndrome		C1859587	ORPHA	1	32	738	100790
HP:0001252	HP:0001252	Hypotonia	0	ASPA CL E G H	443	314911				ORPHA	1	245	756	608034
HP:0001252	HP:0001252	Hypotonia	0	ASPA CL E G H	443	314911				ORPHA	1	281	756	608034
HP:0001252	HP:0001252	Hypotonia	0	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	245	756	608034
HP:0001252	HP:0001252	Hypotonia	0	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	281	756	608034
HP:0001252	HP:0001252	Hypotonia	0	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	298	18318	612990
HP:0001252	HP:0001252	Hypotonia	0	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	388	18318	612990
HP:0001252	HP:0001252	Hypotonia	0	ATCAY CL E G H	85300	601238	Cerebellar ataxia, Cayman type	601238	C1832585	OMIM	1	175	779	608179
HP:0001252	HP:0001252	Hypotonia	0	ATCAY CL E G H	85300	601238	Cerebellar ataxia, Cayman type	601238	C1832585	OMIM	1	179	779	608179
HP:0001252	HP:0001252	Hypotonia	0	ATIC CL E G H	471	608688	AICAR transformylase/IMP cyclohydrolase deficiency	608688	C1837530	OMIM	1	67	794	601731
HP:0001252	HP:0001252	Hypotonia	0	ATIC CL E G H	471	608688	AICAR transformylase/IMP cyclohydrolase deficiency	608688	C1837530	OMIM	1	72	794	601731
HP:0001252	HP:0001252	Hypotonia	0	ATP6V0A2 CL E G H	23545	219200	Cutis laxa with osteodystrophy	219200	C0268355	OMIM	1	417	18481	611716
HP:0001252	HP:0001252	Hypotonia	0	ATP6V0A2 CL E G H	23545	219200	Cutis laxa with osteodystrophy	219200	C0268355	OMIM	1	458	18481	611716
HP:0001252	HP:0001252	Hypotonia	0	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	417	18481	611716
HP:0001252	HP:0001252	Hypotonia	0	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	458	18481	611716
HP:0001252	HP:0001252	Hypotonia	0	ATP7A CL E G H	538	198				ORPHA	1	897	869	300011
HP:0001252	HP:0001252	Hypotonia	0	ATP7A CL E G H	538	198				ORPHA	1	1003	869	300011
HP:0001252	HP:0001252	Hypotonia	0	ATP7A CL E G H	538	565				ORPHA	1	897	869	300011
HP:0001252	HP:0001252	Hypotonia	0	ATP7A CL E G H	538	565				ORPHA	1	1003	869	300011
HP:0001252	HP:0001252	Hypotonia	0	ATP8A2 CL E G H	51761	1766				ORPHA	1	126	13533	605870
HP:0001252	HP:0001252	Hypotonia	0	ATP8A2 CL E G H	51761	1766				ORPHA	1	193	13533	605870
HP:0001252	HP:0001252	Hypotonia	0	ATPAF2 CL E G H	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	604273	C2700431	OMIM	1	209	18802	608918
HP:0001252	HP:0001252	Hypotonia	0	ATPAF2 CL E G H	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	604273	C2700431	OMIM	1	219	18802	608918
HP:0001252	HP:0001252	Hypotonia	0	ATRX CL E G H	546	847				ORPHA	1	1103	886	300032
HP:0001252	HP:0001252	Hypotonia	0	ATRX CL E G H	546	847				ORPHA	1	1217	886	300032
HP:0001252	HP:0001252	Hypotonia	0	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	76	10548	601556
HP:0001252	HP:0001252	Hypotonia	0	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	78	10548	601556
HP:0001252	HP:0001252	Hypotonia	0	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	50	10555	601517
HP:0001252	HP:0001252	Hypotonia	0	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	52	10555	601517
HP:0001252	HP:0001252	Hypotonia	0	B3GALNT2 CL E G H	148789	588				ORPHA	1	343	28596	610194
HP:0001252	HP:0001252	Hypotonia	0	B3GALNT2 CL E G H	148789	588				ORPHA	1	411	28596	610194
HP:0001252	HP:0001252	Hypotonia	0	B3GALNT2 CL E G H	148789	899				ORPHA	1	343	28596	610194
HP:0001252	HP:0001252	Hypotonia	0	B3GALNT2 CL E G H	148789	899				ORPHA	1	411	28596	610194
HP:0001252	HP:0001252	Hypotonia	0	B3GALT6 CL E G H	126792	75496				ORPHA	1	281	17978	615291
HP:0001252	HP:0001252	Hypotonia	0	B3GALT6 CL E G H	126792	75496				ORPHA	1	337	17978	615291
HP:0001252	HP:0001252	Hypotonia	0	B3GALT6 CL E G H	126792	271640	Spondyloepimetaphyseal dysplasia with joint laxity	271640	C0432243	OMIM	1	281	17978	615291
HP:0001252	HP:0001252	Hypotonia	0	B3GALT6 CL E G H	126792	271640	Spondyloepimetaphyseal dysplasia with joint laxity	271640	C0432243	OMIM	1	337	17978	615291
HP:0001252	HP:0001252	Hypotonia	0	B3GAT3 CL E G H	26229	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1	89	923	606374
HP:0001252	HP:0001252	Hypotonia	0	B3GAT3 CL E G H	26229	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1	126	923	606374
HP:0001252	HP:0001252	Hypotonia	0	B4GALT1 CL E G H	2683	79332				ORPHA	1	141	924	137060
HP:0001252	HP:0001252	Hypotonia	0	B4GALT1 CL E G H	2683	79332				ORPHA	1	146	924	137060
HP:0001252	HP:0001252	Hypotonia	0	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1	141	924	137060
HP:0001252	HP:0001252	Hypotonia	0	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1	146	924	137060
HP:0001252	HP:0001252	Hypotonia	0	B4GALT7 CL E G H	11285	75496				ORPHA	1	175	930	604327
HP:0001252	HP:0001252	Hypotonia	0	B4GALT7 CL E G H	11285	75496				ORPHA	1	237	930	604327
HP:0001252	HP:0001252	Hypotonia	0	B4GALT7 CL E G H	11285	130070	Ehlers-Danlos syndrome progeroid type	130070	C1869122	OMIM	1	175	930	604327
HP:0001252	HP:0001252	Hypotonia	0	B4GALT7 CL E G H	11285	130070	Ehlers-Danlos syndrome progeroid type	130070	C1869122	OMIM	1	237	930	604327
HP:0001252	HP:0001252	Hypotonia	0	B4GAT1 CL E G H	11041	899				ORPHA	1	122	15685	605517
HP:0001252	HP:0001252	Hypotonia	0	B4GAT1 CL E G H	11041	899				ORPHA	1	151	15685	605517
HP:0001252	HP:0001252	Hypotonia	0	B9D1 CL E G H	27077	475	Acquired hypoprothrombinemia			ORPHA	1	196	24123	614144
HP:0001252	HP:0001252	Hypotonia	0	B9D1 CL E G H	27077	475	Acquired hypoprothrombinemia			ORPHA	1	230	24123	614144
HP:0001252	HP:0001252	Hypotonia	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	191	961	605681
HP:0001252	HP:0001252	Hypotonia	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	192	961	605681
HP:0001252	HP:0001252	Hypotonia	0	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	384	986	608348
HP:0001252	HP:0001252	Hypotonia	0	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	413	986	608348
HP:0001252	HP:0001252	Hypotonia	0	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	448	987	248611
HP:0001252	HP:0001252	Hypotonia	0	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	478	987	248611
HP:0001252	HP:0001252	Hypotonia	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	249	1020	603647
HP:0001252	HP:0001252	Hypotonia	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	279	1020	603647
HP:0001252	HP:0001252	Hypotonia	0	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	249	1020	603647
HP:0001252	HP:0001252	Hypotonia	0	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	279	1020	603647
HP:0001252	HP:0001252	Hypotonia	0	BRAF CL E G H	673	648				ORPHA	1	618	1097	164757
HP:0001252	HP:0001252	Hypotonia	0	BRAF CL E G H	673	648				ORPHA	1	680	1097	164757
HP:0001252	HP:0001252	Hypotonia	0	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	618	1097	164757
HP:0001252	HP:0001252	Hypotonia	0	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	680	1097	164757
HP:0001252	HP:0001252	Hypotonia	0	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	618	1097	164757
HP:0001252	HP:0001252	Hypotonia	0	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	680	1097	164757
HP:0001252	HP:0001252	Hypotonia	0	BRWD3 CL E G H	254065	300659	Mental retardation, X-linked 93	300659	C1970841	OMIM	1	452	17342	300553
HP:0001252	HP:0001252	Hypotonia	0	BRWD3 CL E G H	254065	300659	Mental retardation, X-linked 93	300659	C1970841	OMIM	1	472	17342	300553
HP:0001252	HP:0001252	Hypotonia	0	BSND CL E G H	7809	602522	Bartter syndrome type 4	602522	C1865270	OMIM	1	198	16512	606412
HP:0001252	HP:0001252	Hypotonia	0	BSND CL E G H	7809	602522	Bartter syndrome type 4	602522	C1865270	OMIM	1	209	16512	606412
HP:0001252	HP:0001252	Hypotonia	0	BTD CL E G H	686	79241				ORPHA	1	366	1122	609019
HP:0001252	HP:0001252	Hypotonia	0	BTD CL E G H	686	79241				ORPHA	1	409	1122	609019
HP:0001252	HP:0001252	Hypotonia	0	BTD CL E G H	686	253260	Biotinidase deficiency	253260	C0220754	OMIM	1	366	1122	609019
HP:0001252	HP:0001252	Hypotonia	0	BTD CL E G H	686	253260	Biotinidase deficiency	253260	C0220754	OMIM	1	409	1122	609019
HP:0001252	HP:0001252	Hypotonia	0	CA8 CL E G H	767	1766				ORPHA	1	77	1382	114815
HP:0001252	HP:0001252	Hypotonia	0	CA8 CL E G H	767	1766				ORPHA	1	83	1382	114815
HP:0001252	HP:0001252	Hypotonia	0	CAMKMT CL E G H	79823	163693				ORPHA	1	32	26276	609559
HP:0001252	HP:0001252	Hypotonia	0	CAMKMT CL E G H	79823	163693				ORPHA	1	33	26276	609559
HP:0001252	HP:0001252	Hypotonia	0	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	185	19721	613165
HP:0001252	HP:0001252	Hypotonia	0	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	218	19721	613165
HP:0001252	HP:0001252	Hypotonia	0	CASR CL E G H	846	417	Aloi Tomasini Isaia syndrome			ORPHA	1	1318	1514	601199
HP:0001252	HP:0001252	Hypotonia	0	CASR CL E G H	846	417	Aloi Tomasini Isaia syndrome			ORPHA	1	1569	1514	601199
HP:0001252	HP:0001252	Hypotonia	0	CASR CL E G H	846	239200	Neonatal severe hyperparathyroidism	239200	C1832615	OMIM	1	1318	1514	601199
HP:0001252	HP:0001252	Hypotonia	0	CASR CL E G H	846	239200	Neonatal severe hyperparathyroidism	239200	C1832615	OMIM	1	1569	1514	601199
HP:0001252	HP:0001252	Hypotonia	0	CC2D2A CL E G H	57545	2318				ORPHA	1	881	29253	612013
HP:0001252	HP:0001252	Hypotonia	0	CC2D2A CL E G H	57545	2318				ORPHA	1	1064	29253	612013
HP:0001252	HP:0001252	Hypotonia	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	881	29253	612013
HP:0001252	HP:0001252	Hypotonia	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1064	29253	612013
HP:0001252	HP:0001252	Hypotonia	0	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	881	29253	612013
HP:0001252	HP:0001252	Hypotonia	0	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	1064	29253	612013
HP:0001252	HP:0001252	Hypotonia	0	CCDC22 CL E G H	28952	7	Typical Joubert syndrome MRI findings		CN228298	ORPHA	1	242	28909	300859
HP:0001252	HP:0001252	Hypotonia	0	CCDC22 CL E G H	28952	7	Typical Joubert syndrome MRI findings		CN228298	ORPHA	1	250	28909	300859
HP:0001252	HP:0001252	Hypotonia	0	CD96 CL E G H	10225	211750	C syndrome	211750	C0796095	OMIM	1	56	16892	606037
HP:0001252	HP:0001252	Hypotonia	0	CD96 CL E G H	10225	211750	C syndrome	211750	C0796095	OMIM	1	62	16892	606037
HP:0001252	HP:0001252	Hypotonia	0	CD96 CL E G H	10225	1308	Chorioretinopathy dominant form microcephaly			ORPHA	1	56	16892	606037
HP:0001252	HP:0001252	Hypotonia	0	CD96 CL E G H	10225	1308	Chorioretinopathy dominant form microcephaly			ORPHA	1	62	16892	606037
HP:0001252	HP:0001252	Hypotonia	0	CDKL5 CL E G H	6792	300672	Early infantile epileptic encephalopathy 2	300672	C1839333	OMIM	1	1270	11411	300203
HP:0001252	HP:0001252	Hypotonia	0	CDKL5 CL E G H	6792	300672	Early infantile epileptic encephalopathy 2	300672	C1839333	OMIM	1	1399	11411	300203
HP:0001252	HP:0001252	Hypotonia	0	CDKN1C CL E G H	1028	85173				ORPHA	1	673	1786	600856
HP:0001252	HP:0001252	Hypotonia	0	CDKN1C CL E G H	1028	85173				ORPHA	1	806	1786	600856
HP:0001252	HP:0001252	Hypotonia	0	CEP104 CL E G H	9731	475	Acquired hypoprothrombinemia			ORPHA	1	354	24866	616690
HP:0001252	HP:0001252	Hypotonia	0	CEP104 CL E G H	9731	475	Acquired hypoprothrombinemia			ORPHA	1	384	24866	616690
HP:0001252	HP:0001252	Hypotonia	0	CEP120 CL E G H	153241	220493				ORPHA	1	210	26690	613446
HP:0001252	HP:0001252	Hypotonia	0	CEP120 CL E G H	153241	220493				ORPHA	1	250	26690	613446
HP:0001252	HP:0001252	Hypotonia	0	CEP120 CL E G H	153241	475	Acquired hypoprothrombinemia			ORPHA	1	210	26690	613446
HP:0001252	HP:0001252	Hypotonia	0	CEP120 CL E G H	153241	475	Acquired hypoprothrombinemia			ORPHA	1	250	26690	613446
HP:0001252	HP:0001252	Hypotonia	0	CEP290 CL E G H	80184	65				ORPHA	1	1535	29021	610142
HP:0001252	HP:0001252	Hypotonia	0	CEP290 CL E G H	80184	65				ORPHA	1	1902	29021	610142
HP:0001252	HP:0001252	Hypotonia	0	CEP290 CL E G H	80184	2318				ORPHA	1	1535	29021	610142
HP:0001252	HP:0001252	Hypotonia	0	CEP290 CL E G H	80184	2318				ORPHA	1	1902	29021	610142
HP:0001252	HP:0001252	Hypotonia	0	CEP290 CL E G H	80184	610188	Joubert syndrome 5	610188	C1857780	OMIM	1	1535	29021	610142
HP:0001252	HP:0001252	Hypotonia	0	CEP290 CL E G H	80184	610188	Joubert syndrome 5	610188	C1857780	OMIM	1	1902	29021	610142
HP:0001252	HP:0001252	Hypotonia	0	CEP41 CL E G H	95681	220493				ORPHA	1	297	12370	610523
HP:0001252	HP:0001252	Hypotonia	0	CEP41 CL E G H	95681	220493				ORPHA	1	347	12370	610523
HP:0001252	HP:0001252	Hypotonia	0	CEP41 CL E G H	95681	475	Acquired hypoprothrombinemia			ORPHA	1	297	12370	610523
HP:0001252	HP:0001252	Hypotonia	0	CEP41 CL E G H	95681	475	Acquired hypoprothrombinemia			ORPHA	1	347	12370	610523
HP:0001252	HP:0001252	Hypotonia	0	CFL2 CL E G H	1073	610687	Nemaline myopathy 7	610687	C1853154	OMIM	1	128	1875	601443
HP:0001252	HP:0001252	Hypotonia	0	CFL2 CL E G H	1073	610687	Nemaline myopathy 7	610687	C1853154	OMIM	1	139	1875	601443
HP:0001252	HP:0001252	Hypotonia	0	CHD7 CL E G H	55636	138				ORPHA	1	1752	20626	608892
HP:0001252	HP:0001252	Hypotonia	0	CHD7 CL E G H	55636	138				ORPHA	1	1980	20626	608892
HP:0001252	HP:0001252	Hypotonia	0	CHST3 CL E G H	9469	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1	285	1971	603799
HP:0001252	HP:0001252	Hypotonia	0	CHST3 CL E G H	9469	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1	333	1971	603799
HP:0001252	HP:0001252	Hypotonia	0	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	78	26877	616174
HP:0001252	HP:0001252	Hypotonia	0	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	94	26877	616174
HP:0001252	HP:0001252	Hypotonia	0	CLCNKA CL E G H	1187	613090	Bartter syndrome, type 4b	613090	C2751312	OMIM	1	186	2026	602024
HP:0001252	HP:0001252	Hypotonia	0	CLCNKA CL E G H	1187	613090	Bartter syndrome, type 4b	613090	C2751312	OMIM	1	187	2026	602024
HP:0001252	HP:0001252	Hypotonia	0	CLCNKB CL E G H	1188	613090	Bartter syndrome, type 4b	613090	C2751312	OMIM	1	304	2027	602023
HP:0001252	HP:0001252	Hypotonia	0	CLCNKB CL E G H	1188	613090	Bartter syndrome, type 4b	613090	C2751312	OMIM	1	338	2027	602023
HP:0001252	HP:0001252	Hypotonia	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	176	2586	603432
HP:0001252	HP:0001252	Hypotonia	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	177	2586	603432
HP:0001252	HP:0001252	Hypotonia	0	CNTNAP1 CL E G H	8506	2680				ORPHA	1	158	8011	602346
HP:0001252	HP:0001252	Hypotonia	0	CNTNAP1 CL E G H	8506	2680				ORPHA	1	216	8011	602346
HP:0001252	HP:0001252	Hypotonia	0	COA6 CL E G H	388753	616501	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4	616501	C4225304	OMIM	1	73	18025	614772
HP:0001252	HP:0001252	Hypotonia	0	COA6 CL E G H	388753	616501	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4	616501	C4225304	OMIM	1	76	18025	614772
HP:0001252	HP:0001252	Hypotonia	0	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	27	25716	615623
HP:0001252	HP:0001252	Hypotonia	0	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	31	25716	615623
HP:0001252	HP:0001252	Hypotonia	0	COG1 CL E G H	9382	611209	COG1 congenital disorder of glycosylation	611209	C1970016	OMIM	1	181	6545	606973
HP:0001252	HP:0001252	Hypotonia	0	COG1 CL E G H	9382	611209	COG1 congenital disorder of glycosylation	611209	C1970016	OMIM	1	248	6545	606973
HP:0001252	HP:0001252	Hypotonia	0	COG5 CL E G H	10466	613612	Congenital disorder of glycosylation type 2i	613612	C3150876	OMIM	1	311	14857	606821
HP:0001252	HP:0001252	Hypotonia	0	COG5 CL E G H	10466	613612	Congenital disorder of glycosylation type 2i	613612	C3150876	OMIM	1	490	14857	606821
HP:0001252	HP:0001252	Hypotonia	0	COG7 CL E G H	91949	79333				ORPHA	1	211	18622	606978
HP:0001252	HP:0001252	Hypotonia	0	COG7 CL E G H	91949	79333				ORPHA	1	254	18622	606978
HP:0001252	HP:0001252	Hypotonia	0	COG8 CL E G H	84342	611182	Congenital disorder of glycosylation type 2H	611182	C1970021	OMIM	1	156	18623	606979
HP:0001252	HP:0001252	Hypotonia	0	COG8 CL E G H	84342	611182	Congenital disorder of glycosylation type 2H	611182	C1970021	OMIM	1	177	18623	606979
HP:0001252	HP:0001252	Hypotonia	0	COL1A1 CL E G H	1277	1899				ORPHA	1	1397	2197	120150
HP:0001252	HP:0001252	Hypotonia	0	COL1A1 CL E G H	1277	1899				ORPHA	1	1655	2197	120150
HP:0001252	HP:0001252	Hypotonia	0	COL1A1 CL E G H	1277	130060	Ehlers-Danlos syndrome, procollagen proteinase deficient	130060	C0268345	OMIM	1	1397	2197	120150
HP:0001252	HP:0001252	Hypotonia	0	COL1A1 CL E G H	1277	130060	Ehlers-Danlos syndrome, procollagen proteinase deficient	130060	C0268345	OMIM	1	1655	2197	120150
HP:0001252	HP:0001252	Hypotonia	0	COL1A2 CL E G H	1278	1899				ORPHA	1	1042	2198	120160
HP:0001252	HP:0001252	Hypotonia	0	COL1A2 CL E G H	1278	1899				ORPHA	1	1203	2198	120160
HP:0001252	HP:0001252	Hypotonia	0	COL2A1 CL E G H	1280	183900	Spondyloepiphyseal dysplasia	183900	C0038015	OMIM	1	1213	2200	120140
HP:0001252	HP:0001252	Hypotonia	0	COL2A1 CL E G H	1280	183900	Spondyloepiphyseal dysplasia	183900	C0038015	OMIM	1	1540	2200	120140
HP:0001252	HP:0001252	Hypotonia	0	COL4A1 CL E G H	1282	899				ORPHA	1	837	2202	120130
HP:0001252	HP:0001252	Hypotonia	0	COL4A1 CL E G H	1282	899				ORPHA	1	1010	2202	120130
HP:0001252	HP:0001252	Hypotonia	0	COLQ CL E G H	8292	98915				ORPHA	1	364	2226	603033
HP:0001252	HP:0001252	Hypotonia	0	COLQ CL E G H	8292	98915				ORPHA	1	418	2226	603033
HP:0001252	HP:0001252	Hypotonia	0	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	364	2226	603033
HP:0001252	HP:0001252	Hypotonia	0	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	418	2226	603033
HP:0001252	HP:0001252	Hypotonia	0	COMT CL E G H	1312	567				ORPHA	1	579	2228	116790
HP:0001252	HP:0001252	Hypotonia	0	COMT CL E G H	1312	567				ORPHA	1	587	2228	116790
HP:0001252	HP:0001252	Hypotonia	0	COQ7 CL E G H	10229	616733	Coenzyme Q10 deficiency, primary, 8	616733	C4225226	OMIM	1	67	2244	601683
HP:0001252	HP:0001252	Hypotonia	0	COQ7 CL E G H	10229	616733	Coenzyme Q10 deficiency, primary, 8	616733	C4225226	OMIM	1	107	2244	601683
HP:0001252	HP:0001252	Hypotonia	0	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	247	2260	602125
HP:0001252	HP:0001252	Hypotonia	0	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	263	2260	602125
HP:0001252	HP:0001252	Hypotonia	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	247	2260	602125
HP:0001252	HP:0001252	Hypotonia	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	263	2260	602125
HP:0001252	HP:0001252	Hypotonia	0	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	24	28216	614478
HP:0001252	HP:0001252	Hypotonia	0	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	28	28216	614478
HP:0001252	HP:0001252	Hypotonia	0	COX15 CL E G H	1355	255241				ORPHA	1	216	2263	603646
HP:0001252	HP:0001252	Hypotonia	0	COX15 CL E G H	1355	255241				ORPHA	1	233	2263	603646
HP:0001252	HP:0001252	Hypotonia	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	216	2263	603646
HP:0001252	HP:0001252	Hypotonia	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	233	2263	603646
HP:0001252	HP:0001252	Hypotonia	0	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	139	26970	614698
HP:0001252	HP:0001252	Hypotonia	0	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	155	26970	614698
HP:0001252	HP:0001252	Hypotonia	0	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	44	2280	124089
HP:0001252	HP:0001252	Hypotonia	0	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	52	2280	124089
HP:0001252	HP:0001252	Hypotonia	0	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	18	2294	123870
HP:0001252	HP:0001252	Hypotonia	0	CPLANE1 CL E G H	65250	475	Acquired hypoprothrombinemia			ORPHA	1	824	25801	614571
HP:0001252	HP:0001252	Hypotonia	0	CPLANE1 CL E G H	65250	475	Acquired hypoprothrombinemia			ORPHA	1	1239	25801	614571
HP:0001252	HP:0001252	Hypotonia	0	CPLANE1 CL E G H	65250	277170	Orofaciodigital syndrome 6	277170	C2745997	OMIM	1	824	25801	614571
HP:0001252	HP:0001252	Hypotonia	0	CPLANE1 CL E G H	65250	277170	Orofaciodigital syndrome 6	277170	C2745997	OMIM	1	1239	25801	614571
HP:0001252	HP:0001252	Hypotonia	0	CPS1 CL E G H	1373	147				ORPHA	1	814	2323	608307
HP:0001252	HP:0001252	Hypotonia	0	CPS1 CL E G H	1373	147				ORPHA	1	910	2323	608307
HP:0001252	HP:0001252	Hypotonia	0	CPT1A CL E G H	1374	156				ORPHA	1	452	2328	600528
HP:0001252	HP:0001252	Hypotonia	0	CPT1A CL E G H	1374	156				ORPHA	1	503	2328	600528
HP:0001252	HP:0001252	Hypotonia	0	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	452	2328	600528
HP:0001252	HP:0001252	Hypotonia	0	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	503	2328	600528
HP:0001252	HP:0001252	Hypotonia	0	CPT2 CL E G H	1376	228308				ORPHA	1	505	2330	600650
HP:0001252	HP:0001252	Hypotonia	0	CPT2 CL E G H	1376	228308				ORPHA	1	618	2330	600650
HP:0001252	HP:0001252	Hypotonia	0	CRB1 CL E G H	23418	65				ORPHA	1	894	2343	604210
HP:0001252	HP:0001252	Hypotonia	0	CRB1 CL E G H	23418	65				ORPHA	1	1085	2343	604210
HP:0001252	HP:0001252	Hypotonia	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0001252	HP:0001252	Hypotonia	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0001252	HP:0001252	Hypotonia	0	CRX CL E G H	1406	65				ORPHA	1	361	2383	602225
HP:0001252	HP:0001252	Hypotonia	0	CRX CL E G H	1406	65				ORPHA	1	419	2383	602225
HP:0001252	HP:0001252	Hypotonia	0	CSPP1 CL E G H	79848	475	Acquired hypoprothrombinemia			ORPHA	1	476	26193	611654
HP:0001252	HP:0001252	Hypotonia	0	CSPP1 CL E G H	79848	475	Acquired hypoprothrombinemia			ORPHA	1	687	26193	611654
HP:0001252	HP:0001252	Hypotonia	0	CTNND2 CL E G H	1501	281	Ramer Ladda syndrome			ORPHA	1	304	2516	604275
HP:0001252	HP:0001252	Hypotonia	0	CTNND2 CL E G H	1501	281	Ramer Ladda syndrome			ORPHA	1	308	2516	604275
HP:0001252	HP:0001252	Hypotonia	0	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	118	2606	609506
HP:0001252	HP:0001252	Hypotonia	0	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	136	2606	609506
HP:0001252	HP:0001252	Hypotonia	0	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	63	20580	608713
HP:0001252	HP:0001252	Hypotonia	0	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	74	20580	608713
HP:0001252	HP:0001252	Hypotonia	0	D2HGDH CL E G H	728294	600721	D-2-hydroxyglutaric aciduria 1	600721	C3152055	OMIM	1	331	28358	609186
HP:0001252	HP:0001252	Hypotonia	0	D2HGDH CL E G H	728294	600721	D-2-hydroxyglutaric aciduria 1	600721	C3152055	OMIM	1	357	28358	609186
HP:0001252	HP:0001252	Hypotonia	0	DAG1 CL E G H	1605	899				ORPHA	1	376	2666	128239
HP:0001252	HP:0001252	Hypotonia	0	DAG1 CL E G H	1605	899				ORPHA	1	467	2666	128239
HP:0001252	HP:0001252	Hypotonia	0	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	467	2698	248610
HP:0001252	HP:0001252	Hypotonia	0	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	511	2698	248610
HP:0001252	HP:0001252	Hypotonia	0	DCX CL E G H	1641	2148				ORPHA	1	357	2714	300121
HP:0001252	HP:0001252	Hypotonia	0	DCX CL E G H	1641	2148				ORPHA	1	368	2714	300121
HP:0001252	HP:0001252	Hypotonia	0	DEAF1 CL E G H	10522	819				ORPHA	1	179	14677	602635
HP:0001252	HP:0001252	Hypotonia	0	DEAF1 CL E G H	10522	819				ORPHA	1	311	14677	602635
HP:0001252	HP:0001252	Hypotonia	0	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	140	2858	601465
HP:0001252	HP:0001252	Hypotonia	0	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	156	2858	601465
HP:0001252	HP:0001252	Hypotonia	0	DHCR7 CL E G H	1717	818				ORPHA	1	511	2860	602858
HP:0001252	HP:0001252	Hypotonia	0	DHCR7 CL E G H	1717	818				ORPHA	1	546	2860	602858
HP:0001252	HP:0001252	Hypotonia	0	DIS3L2 CL E G H	129563	2849				ORPHA	1	1249	28648	614184
HP:0001252	HP:0001252	Hypotonia	0	DIS3L2 CL E G H	129563	2849				ORPHA	1	1505	28648	614184
HP:0001252	HP:0001252	Hypotonia	0	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	5601	2928	300377
HP:0001252	HP:0001252	Hypotonia	0	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	6395	2928	300377
HP:0001252	HP:0001252	Hypotonia	0	DMPK CL E G H	1760	273				ORPHA	1	235	2933	605377
HP:0001252	HP:0001252	Hypotonia	0	DMPK CL E G H	1760	160900	Steinert myotonic dystrophy syndrome	160900	C3250443	OMIM	1	235	2933	605377
HP:0001252	HP:0001252	Hypotonia	0	DPAGT1 CL E G H	1798	86309				ORPHA	1	199	2995	191350
HP:0001252	HP:0001252	Hypotonia	0	DPAGT1 CL E G H	1798	86309				ORPHA	1	233	2995	191350
HP:0001252	HP:0001252	Hypotonia	0	DPAGT1 CL E G H	1798	608093	Congenital disorder of glycosylation type 1J	608093	C2931004	OMIM	1	199	2995	191350
HP:0001252	HP:0001252	Hypotonia	0	DPAGT1 CL E G H	1798	608093	Congenital disorder of glycosylation type 1J	608093	C2931004	OMIM	1	233	2995	191350
HP:0001252	HP:0001252	Hypotonia	0	DPF2 CL E G H	5977	1465				ORPHA	1	37	9964	601671
HP:0001252	HP:0001252	Hypotonia	0	DPF2 CL E G H	5977	1465				ORPHA	1	45	9964	601671
HP:0001252	HP:0001252	Hypotonia	0	DPM1 CL E G H	8813	79322				ORPHA	1	156	3005	603503
HP:0001252	HP:0001252	Hypotonia	0	DPM1 CL E G H	8813	79322				ORPHA	1	188	3005	603503
HP:0001252	HP:0001252	Hypotonia	0	DPM1 CL E G H	8813	608799	Congenital disorder of glycosylation type 1E	608799	C1837396	OMIM	1	156	3005	603503
HP:0001252	HP:0001252	Hypotonia	0	DPM1 CL E G H	8813	608799	Congenital disorder of glycosylation type 1E	608799	C1837396	OMIM	1	188	3005	603503
HP:0001252	HP:0001252	Hypotonia	0	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	338	3012	612779
HP:0001252	HP:0001252	Hypotonia	0	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	340	3012	612779
HP:0001252	HP:0001252	Hypotonia	0	DUOX2 CL E G H	50506	95716				ORPHA	1	434	13273	606759
HP:0001252	HP:0001252	Hypotonia	0	DUOX2 CL E G H	50506	95716				ORPHA	1	668	13273	606759
HP:0001252	HP:0001252	Hypotonia	0	DUOXA2 CL E G H	405753	95716				ORPHA	1	69	32698	612772
HP:0001252	HP:0001252	Hypotonia	0	DUOXA2 CL E G H	405753	95716				ORPHA	1	70	32698	612772
HP:0001252	HP:0001252	Hypotonia	0	DYNC1H1 CL E G H	1778	614563	Mental retardation, autosomal dominant 13	614563	C3281202	OMIM	1	2023	2961	600112
HP:0001252	HP:0001252	Hypotonia	0	DYNC1H1 CL E G H	1778	614563	Mental retardation, autosomal dominant 13	614563	C3281202	OMIM	1	2385	2961	600112
HP:0001252	HP:0001252	Hypotonia	0	ECHS1 CL E G H	1892	255241				ORPHA	1	241	3151	602292
HP:0001252	HP:0001252	Hypotonia	0	ECHS1 CL E G H	1892	255241				ORPHA	1	301	3151	602292
HP:0001252	HP:0001252	Hypotonia	0	EDNRB CL E G H	1910	277580	Waardenburg syndrome type 4A	277580	C1848519	OMIM	1	233	3180	131244
HP:0001252	HP:0001252	Hypotonia	0	EDNRB CL E G H	1910	277580	Waardenburg syndrome type 4A	277580	C1848519	OMIM	1	258	3180	131244
HP:0001252	HP:0001252	Hypotonia	0	EFNB1 CL E G H	1947	1520				ORPHA	1	201	3226	300035
HP:0001252	HP:0001252	Hypotonia	0	EFNB1 CL E G H	1947	1520				ORPHA	1	210	3226	300035
HP:0001252	HP:0001252	Hypotonia	0	EFNB1 CL E G H	1947	304110	Craniofrontonasal dysplasia	304110	C0220767	OMIM	1	201	3226	300035
HP:0001252	HP:0001252	Hypotonia	0	EFNB1 CL E G H	1947	304110	Craniofrontonasal dysplasia	304110	C0220767	OMIM	1	210	3226	300035
HP:0001252	HP:0001252	Hypotonia	0	EGR2 CL E G H	1959	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	245	3239	129010
HP:0001252	HP:0001252	Hypotonia	0	EGR2 CL E G H	1959	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	286	3239	129010
HP:0001252	HP:0001252	Hypotonia	0	EHMT1 CL E G H	79813	96147				ORPHA	1	1164	24650	607001
HP:0001252	HP:0001252	Hypotonia	0	EHMT1 CL E G H	79813	96147				ORPHA	1	1301	24650	607001
HP:0001252	HP:0001252	Hypotonia	0	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	1	178	3255	604032
HP:0001252	HP:0001252	Hypotonia	0	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	1	296	3255	604032
HP:0001252	HP:0001252	Hypotonia	0	EIF2B1 CL E G H	1967	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	103	3257	606686
HP:0001252	HP:0001252	Hypotonia	0	EIF2B1 CL E G H	1967	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	122	3257	606686
HP:0001252	HP:0001252	Hypotonia	0	EIF2B2 CL E G H	8892	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	104	3258	606454
HP:0001252	HP:0001252	Hypotonia	0	EIF2B2 CL E G H	8892	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	120	3258	606454
HP:0001252	HP:0001252	Hypotonia	0	EIF2B3 CL E G H	8891	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	97	3259	606273
HP:0001252	HP:0001252	Hypotonia	0	EIF2B3 CL E G H	8891	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	125	3259	606273
HP:0001252	HP:0001252	Hypotonia	0	EIF2B4 CL E G H	8890	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	103	3260	606687
HP:0001252	HP:0001252	Hypotonia	0	EIF2B4 CL E G H	8890	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	129	3260	606687
HP:0001252	HP:0001252	Hypotonia	0	EIF2B5 CL E G H	8893	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	283	3261	603945
HP:0001252	HP:0001252	Hypotonia	0	EIF2B5 CL E G H	8893	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	335	3261	603945
HP:0001252	HP:0001252	Hypotonia	0	EIF2S3 CL E G H	1968	85282				ORPHA	1	190	3267	300161
HP:0001252	HP:0001252	Hypotonia	0	EIF2S3 CL E G H	1968	85282				ORPHA	1	196	3267	300161
HP:0001252	HP:0001252	Hypotonia	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	657	3327	130160
HP:0001252	HP:0001252	Hypotonia	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	704	3327	130160
HP:0001252	HP:0001252	Hypotonia	0	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	1	657	3327	130160
HP:0001252	HP:0001252	Hypotonia	0	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	1	704	3327	130160
HP:0001252	HP:0001252	Hypotonia	0	ELP1 CL E G H	8518	1764				ORPHA	1	1054	5959	603722
HP:0001252	HP:0001252	Hypotonia	0	ELP1 CL E G H	8518	1764				ORPHA	1	1181	5959	603722
HP:0001252	HP:0001252	Hypotonia	0	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1054	5959	603722
HP:0001252	HP:0001252	Hypotonia	0	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1181	5959	603722
HP:0001252	HP:0001252	Hypotonia	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HP:0001252	HP:0001252	Hypotonia	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0001252	HP:0001252	Hypotonia	0	EPCAM CL E G H	4072	144				ORPHA	1	360	11529	185535
HP:0001252	HP:0001252	Hypotonia	0	EPCAM CL E G H	4072	144				ORPHA	1	374	11529	185535
HP:0001252	HP:0001252	Hypotonia	0	EPG5 CL E G H	57724	1493	Congenital mesoblastic nephroma			ORPHA	1	801	29331	615068
HP:0001252	HP:0001252	Hypotonia	0	EPG5 CL E G H	57724	1493	Congenital mesoblastic nephroma			ORPHA	1	1033	29331	615068
HP:0001252	HP:0001252	Hypotonia	0	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	801	29331	615068
HP:0001252	HP:0001252	Hypotonia	0	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1033	29331	615068
HP:0001252	HP:0001252	Hypotonia	0	ERCC1 CL E G H	2067	1466				ORPHA	1	106	3433	126380
HP:0001252	HP:0001252	Hypotonia	0	ERCC1 CL E G H	2067	1466				ORPHA	1	110	3433	126380
HP:0001252	HP:0001252	Hypotonia	0	ERCC2 CL E G H	2068	1466				ORPHA	1	360	3434	126340
HP:0001252	HP:0001252	Hypotonia	0	ERCC2 CL E G H	2068	1466				ORPHA	1	479	3434	126340
HP:0001252	HP:0001252	Hypotonia	0	ERCC5 CL E G H	2073	1466				ORPHA	1	361	3437	133530
HP:0001252	HP:0001252	Hypotonia	0	ERCC5 CL E G H	2073	1466				ORPHA	1	374	3437	133530
HP:0001252	HP:0001252	Hypotonia	0	ERCC6 CL E G H	2074	1466				ORPHA	1	825	3438	609413
HP:0001252	HP:0001252	Hypotonia	0	ERCC6 CL E G H	2074	1466				ORPHA	1	946	3438	609413
HP:0001252	HP:0001252	Hypotonia	0	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	825	3438	609413
HP:0001252	HP:0001252	Hypotonia	0	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	946	3438	609413
HP:0001252	HP:0001252	Hypotonia	0	ERF CL E G H	2077	3267				ORPHA	1	111	3444	611888
HP:0001252	HP:0001252	Hypotonia	0	ERF CL E G H	2077	3267				ORPHA	1	120	3444	611888
HP:0001252	HP:0001252	Hypotonia	0	ETFA CL E G H	2108	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	241	3481	608053
HP:0001252	HP:0001252	Hypotonia	0	ETFA CL E G H	2108	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	275	3481	608053
HP:0001252	HP:0001252	Hypotonia	0	ETFB CL E G H	2109	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	139	3482	130410
HP:0001252	HP:0001252	Hypotonia	0	ETFB CL E G H	2109	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	169	3482	130410
HP:0001252	HP:0001252	Hypotonia	0	ETFDH CL E G H	2110	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	430	3483	231675
HP:0001252	HP:0001252	Hypotonia	0	ETFDH CL E G H	2110	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	520	3483	231675
HP:0001252	HP:0001252	Hypotonia	0	ETHE1 CL E G H	23474	602473	Ethylmalonic encephalopathy	602473	C1865349	OMIM	1	204	23287	608451
HP:0001252	HP:0001252	Hypotonia	0	ETHE1 CL E G H	23474	602473	Ethylmalonic encephalopathy	602473	C1865349	OMIM	1	226	23287	608451
HP:0001252	HP:0001252	Hypotonia	0	EZH2 CL E G H	2146	277590	Weaver syndrome	277590	C0265210	OMIM	1	329	3527	601573
HP:0001252	HP:0001252	Hypotonia	0	EZH2 CL E G H	2146	277590	Weaver syndrome	277590	C0265210	OMIM	1	364	3527	601573
HP:0001252	HP:0001252	Hypotonia	0	FAN1 CL E G H	22909	144				ORPHA	1	351	29170	613534
HP:0001252	HP:0001252	Hypotonia	0	FAN1 CL E G H	22909	144				ORPHA	1	361	29170	613534
HP:0001252	HP:0001252	Hypotonia	0	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	270	29160	612322
HP:0001252	HP:0001252	Hypotonia	0	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	294	29160	612322
HP:0001252	HP:0001252	Hypotonia	0	FBN1 CL E G H	2200	2462				ORPHA	1	4968	3603	134797
HP:0001252	HP:0001252	Hypotonia	0	FBN1 CL E G H	2200	2462				ORPHA	1	5457	3603	134797
HP:0001252	HP:0001252	Hypotonia	0	FBN1 CL E G H	2200	284979				ORPHA	1	4968	3603	134797
HP:0001252	HP:0001252	Hypotonia	0	FBN1 CL E G H	2200	284979				ORPHA	1	5457	3603	134797
HP:0001252	HP:0001252	Hypotonia	0	FBP1 CL E G H	2203	229700	Fructose-biphosphatase deficiency	229700	C0016756	OMIM	1	170	3606	611570
HP:0001252	HP:0001252	Hypotonia	0	FBP1 CL E G H	2203	229700	Fructose-biphosphatase deficiency	229700	C0016756	OMIM	1	179	3606	611570
HP:0001252	HP:0001252	Hypotonia	0	FDX2 CL E G H	112812	251900	Mitochondrial myopathy	251900	C0162670	OMIM	1	51	30546	614585
HP:0001252	HP:0001252	Hypotonia	0	FDX2 CL E G H	112812	251900	Mitochondrial myopathy	251900	C0162670	OMIM	1	65	30546	614585
HP:0001252	HP:0001252	Hypotonia	0	FGFR3 CL E G H	2261	1860				ORPHA	1	541	3690	134934
HP:0001252	HP:0001252	Hypotonia	0	FGFR3 CL E G H	2261	1860				ORPHA	1	542	3690	134934
HP:0001252	HP:0001252	Hypotonia	0	FGFR3 CL E G H	2261	93274				ORPHA	1	541	3690	134934
HP:0001252	HP:0001252	Hypotonia	0	FGFR3 CL E G H	2261	93274				ORPHA	1	542	3690	134934
HP:0001252	HP:0001252	Hypotonia	0	FGFR3 CL E G H	2261	15	Antisocial personality disorder			ORPHA	1	541	3690	134934
HP:0001252	HP:0001252	Hypotonia	0	FGFR3 CL E G H	2261	15	Antisocial personality disorder			ORPHA	1	542	3690	134934
HP:0001252	HP:0001252	Hypotonia	0	FGFR3 CL E G H	2261	187600	Thanatophoric dysplasia type 1	187600	C1868678	OMIM	1	541	3690	134934
HP:0001252	HP:0001252	Hypotonia	0	FGFR3 CL E G H	2261	187600	Thanatophoric dysplasia type 1	187600	C1868678	OMIM	1	542	3690	134934
HP:0001252	HP:0001252	Hypotonia	0	FH CL E G H	2271	606812	Fumarase deficiency	606812	C0342770	OMIM	1	1136	3700	136850
HP:0001252	HP:0001252	Hypotonia	0	FH CL E G H	2271	606812	Fumarase deficiency	606812	C0342770	OMIM	1	1292	3700	136850
HP:0001252	HP:0001252	Hypotonia	0	FKBP14 CL E G H	55033	614557	Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss	614557	C3281160	OMIM	1	118	18625	614505
HP:0001252	HP:0001252	Hypotonia	0	FKBP14 CL E G H	55033	614557	Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss	614557	C3281160	OMIM	1	144	18625	614505
HP:0001252	HP:0001252	Hypotonia	0	FKRP CL E G H	79147	588				ORPHA	1	572	17997	606596
HP:0001252	HP:0001252	Hypotonia	0	FKRP CL E G H	79147	588				ORPHA	1	671	17997	606596
HP:0001252	HP:0001252	Hypotonia	0	FKRP CL E G H	79147	899				ORPHA	1	572	17997	606596
HP:0001252	HP:0001252	Hypotonia	0	FKRP CL E G H	79147	899				ORPHA	1	671	17997	606596
HP:0001252	HP:0001252	Hypotonia	0	FKRP CL E G H	79147	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	572	17997	606596
HP:0001252	HP:0001252	Hypotonia	0	FKRP CL E G H	79147	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	671	17997	606596
HP:0001252	HP:0001252	Hypotonia	0	FKTN CL E G H	2218	588				ORPHA	1	599	3622	607440
HP:0001252	HP:0001252	Hypotonia	0	FKTN CL E G H	2218	588				ORPHA	1	679	3622	607440
HP:0001252	HP:0001252	Hypotonia	0	FKTN CL E G H	2218	899				ORPHA	1	599	3622	607440
HP:0001252	HP:0001252	Hypotonia	0	FKTN CL E G H	2218	899				ORPHA	1	679	3622	607440
HP:0001252	HP:0001252	Hypotonia	0	FKTN CL E G H	2218	253800	Fukuyama congenital muscular dystrophy	253800	C0410174	OMIM	1	599	3622	607440
HP:0001252	HP:0001252	Hypotonia	0	FKTN CL E G H	2218	253800	Fukuyama congenital muscular dystrophy	253800	C0410174	OMIM	1	679	3622	607440
HP:0001252	HP:0001252	Hypotonia	0	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	599	3622	607440
HP:0001252	HP:0001252	Hypotonia	0	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	679	3622	607440
HP:0001252	HP:0001252	Hypotonia	0	FKTN CL E G H	2218	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	599	3622	607440
HP:0001252	HP:0001252	Hypotonia	0	FKTN CL E G H	2218	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	679	3622	607440
HP:0001252	HP:0001252	Hypotonia	0	FKTN CL E G H	2218	272	VACTERL hydrocephaly			ORPHA	1	599	3622	607440
HP:0001252	HP:0001252	Hypotonia	0	FKTN CL E G H	2218	272	VACTERL hydrocephaly			ORPHA	1	679	3622	607440
HP:0001252	HP:0001252	Hypotonia	0	FLII CL E G H	2314	819				ORPHA	1	155	3750	600362
HP:0001252	HP:0001252	Hypotonia	0	FLII CL E G H	2314	819				ORPHA	1	158	3750	600362
HP:0001252	HP:0001252	Hypotonia	0	FMR1 CL E G H	2332	908				ORPHA	1	317	3775	309550
HP:0001252	HP:0001252	Hypotonia	0	FMR1 CL E G H	2332	908				ORPHA	1	322	3775	309550
HP:0001252	HP:0001252	Hypotonia	0	FMR1 CL E G H	2332	261483				ORPHA	1	317	3775	309550
HP:0001252	HP:0001252	Hypotonia	0	FMR1 CL E G H	2332	261483				ORPHA	1	322	3775	309550
HP:0001252	HP:0001252	Hypotonia	0	FOXE1 CL E G H	2304	95713				ORPHA	1	69	3806	602617
HP:0001252	HP:0001252	Hypotonia	0	FOXE1 CL E G H	2304	95713				ORPHA	1	70	3806	602617
HP:0001252	HP:0001252	Hypotonia	0	FOXG1 CL E G H	2290	261144				ORPHA	1	491	3811	164874
HP:0001252	HP:0001252	Hypotonia	0	FOXG1 CL E G H	2290	261144				ORPHA	1	534	3811	164874
HP:0001252	HP:0001252	Hypotonia	0	FOXRED1 CL E G H	55572	255241				ORPHA	1	210	26927	613622
HP:0001252	HP:0001252	Hypotonia	0	FOXRED1 CL E G H	55572	255241				ORPHA	1	231	26927	613622
HP:0001252	HP:0001252	Hypotonia	0	FUCA1 CL E G H	2517	349	Neuroaxonal dystrophy renal tubular acidosis			ORPHA	1	137	4006	612280
HP:0001252	HP:0001252	Hypotonia	0	FUCA1 CL E G H	2517	349	Neuroaxonal dystrophy renal tubular acidosis			ORPHA	1	188	4006	612280
HP:0001252	HP:0001252	Hypotonia	0	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	1592	4065	606800
HP:0001252	HP:0001252	Hypotonia	0	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	1784	4065	606800
HP:0001252	HP:0001252	Hypotonia	0	GABRA1 CL E G H	2554	33069				ORPHA	1	418	4075	137160
HP:0001252	HP:0001252	Hypotonia	0	GABRA1 CL E G H	2554	33069				ORPHA	1	458	4075	137160
HP:0001252	HP:0001252	Hypotonia	0	GABRD CL E G H	2563	1606				ORPHA	1	340	4084	137163
HP:0001252	HP:0001252	Hypotonia	0	GABRD CL E G H	2563	1606				ORPHA	1	361	4084	137163
HP:0001252	HP:0001252	Hypotonia	0	GABRG2 CL E G H	2566	33069				ORPHA	1	425	4087	137164
HP:0001252	HP:0001252	Hypotonia	0	GABRG2 CL E G H	2566	33069				ORPHA	1	480	4087	137164
HP:0001252	HP:0001252	Hypotonia	0	GALC CL E G H	2581	245200	Galactosylceramide beta-galactosidase deficiency	245200	C0023521	OMIM	1	746	4115	606890
HP:0001252	HP:0001252	Hypotonia	0	GALC CL E G H	2581	245200	Galactosylceramide beta-galactosidase deficiency	245200	C0023521	OMIM	1	843	4115	606890
HP:0001252	HP:0001252	Hypotonia	0	GALE CL E G H	2582	230350	UDPglucose-4-epimerase deficiency	230350	C0751161	OMIM	1	132	4116	606953
HP:0001252	HP:0001252	Hypotonia	0	GALE CL E G H	2582	230350	UDPglucose-4-epimerase deficiency	230350	C0751161	OMIM	1	141	4116	606953
HP:0001252	HP:0001252	Hypotonia	0	GATA1 CL E G H	2623	190685	Complete trisomy 21 syndrome	190685	C0013080	OMIM	1	283	4170	305371
HP:0001252	HP:0001252	Hypotonia	0	GATA1 CL E G H	2623	190685	Complete trisomy 21 syndrome	190685	C0013080	OMIM	1	304	4170	305371
HP:0001252	HP:0001252	Hypotonia	0	GBA CL E G H	2629	85212				ORPHA	1	261	4177	606463
HP:0001252	HP:0001252	Hypotonia	0	GBA CL E G H	2629	85212				ORPHA	1	269	4177	606463
HP:0001252	HP:0001252	Hypotonia	0	GBE1 CL E G H	2632	232500	Glycogen storage disease, type IV	232500	C0017923	OMIM	1	422	4180	607839
HP:0001252	HP:0001252	Hypotonia	0	GBE1 CL E G H	2632	232500	Glycogen storage disease, type IV	232500	C0017923	OMIM	1	505	4180	607839
HP:0001252	HP:0001252	Hypotonia	0	GCDH CL E G H	2639	25				ORPHA	1	468	4189	608801
HP:0001252	HP:0001252	Hypotonia	0	GCDH CL E G H	2639	25				ORPHA	1	521	4189	608801
HP:0001252	HP:0001252	Hypotonia	0	GCDH CL E G H	2639	231670	Glutaric aciduria, type 1	231670	C0268595	OMIM	1	468	4189	608801
HP:0001252	HP:0001252	Hypotonia	0	GCDH CL E G H	2639	231670	Glutaric aciduria, type 1	231670	C0268595	OMIM	1	521	4189	608801
HP:0001252	HP:0001252	Hypotonia	0	GCSH CL E G H	2653	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	151	4208	238330
HP:0001252	HP:0001252	Hypotonia	0	GCSH CL E G H	2653	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	157	4208	238330
HP:0001252	HP:0001252	Hypotonia	0	GDF6 CL E G H	392255	65				ORPHA	1	212	4221	601147
HP:0001252	HP:0001252	Hypotonia	0	GDF6 CL E G H	392255	65				ORPHA	1	270	4221	601147
HP:0001252	HP:0001252	Hypotonia	0	GLDC CL E G H	2731	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	1274	4313	238300
HP:0001252	HP:0001252	Hypotonia	0	GLDC CL E G H	2731	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	1523	4313	238300
HP:0001252	HP:0001252	Hypotonia	0	GM2A CL E G H	2760	272750	Tay-Sachs disease, variant AB	272750	C0268275	OMIM	1	142	4367	613109
HP:0001252	HP:0001252	Hypotonia	0	GM2A CL E G H	2760	272750	Tay-Sachs disease, variant AB	272750	C0268275	OMIM	1	153	4367	613109
HP:0001252	HP:0001252	Hypotonia	0	GMPPB CL E G H	29925	588				ORPHA	1	203	22932	615320
HP:0001252	HP:0001252	Hypotonia	0	GMPPB CL E G H	29925	588				ORPHA	1	234	22932	615320
HP:0001252	HP:0001252	Hypotonia	0	GMPPB CL E G H	29925	363623				ORPHA	1	203	22932	615320
HP:0001252	HP:0001252	Hypotonia	0	GMPPB CL E G H	29925	363623				ORPHA	1	234	22932	615320
HP:0001252	HP:0001252	Hypotonia	0	GNPAT CL E G H	8443	222765	Rhizomelic chondrodysplasia punctata type 2	222765	C1857242	OMIM	1	193	4416	602744
HP:0001252	HP:0001252	Hypotonia	0	GNPAT CL E G H	8443	222765	Rhizomelic chondrodysplasia punctata type 2	222765	C1857242	OMIM	1	241	4416	602744
HP:0001252	HP:0001252	Hypotonia	0	GORAB CL E G H	92344	2078				ORPHA	1	130	25676	607983
HP:0001252	HP:0001252	Hypotonia	0	GORAB CL E G H	92344	2078				ORPHA	1	174	25676	607983
HP:0001252	HP:0001252	Hypotonia	0	GP1BB CL E G H	2812	567				ORPHA	1	430	4440	138720
HP:0001252	HP:0001252	Hypotonia	0	GP1BB CL E G H	2812	567				ORPHA	1	438	4440	138720
HP:0001252	HP:0001252	Hypotonia	0	GPC3 CL E G H	2719	312870	Simpson-Golabi-Behmel syndrome	312870	C0796154	OMIM	1	694	4451	300037
HP:0001252	HP:0001252	Hypotonia	0	GPC3 CL E G H	2719	312870	Simpson-Golabi-Behmel syndrome	312870	C0796154	OMIM	1	783	4451	300037
HP:0001252	HP:0001252	Hypotonia	0	GPC4 CL E G H	2239	312870	Simpson-Golabi-Behmel syndrome	312870	C0796154	OMIM	1	212	4452	300168
HP:0001252	HP:0001252	Hypotonia	0	GPC4 CL E G H	2239	312870	Simpson-Golabi-Behmel syndrome	312870	C0796154	OMIM	1	217	4452	300168
HP:0001252	HP:0001252	Hypotonia	0	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	159	4659	601679
HP:0001252	HP:0001252	Hypotonia	0	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	160	4659	601679
HP:0001252	HP:0001252	Hypotonia	0	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	211	4661	604318
HP:0001252	HP:0001252	Hypotonia	0	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	213	4661	604318
HP:0001252	HP:0001252	Hypotonia	0	GUCY2D CL E G H	3000	65				ORPHA	1	593	4689	600179
HP:0001252	HP:0001252	Hypotonia	0	GUCY2D CL E G H	3000	65				ORPHA	1	731	4689	600179
HP:0001252	HP:0001252	Hypotonia	0	GUSB CL E G H	2990	584	Al Gazali Donnai Mueller syndrome			ORPHA	1	193	4696	611499
HP:0001252	HP:0001252	Hypotonia	0	GUSB CL E G H	2990	584	Al Gazali Donnai Mueller syndrome			ORPHA	1	230	4696	611499
HP:0001252	HP:0001252	Hypotonia	0	HACD1 CL E G H	9200	2020				ORPHA	1	47	9639	610467
HP:0001252	HP:0001252	Hypotonia	0	HACD1 CL E G H	9200	2020				ORPHA	1	85	9639	610467
HP:0001252	HP:0001252	Hypotonia	0	HACE1 CL E G H	57531	616756	Spastic paraplegia and psychomotor retardation with or without seizures	616756	C4225215	OMIM	1	76	21033	610876
HP:0001252	HP:0001252	Hypotonia	0	HACE1 CL E G H	57531	616756	Spastic paraplegia and psychomotor retardation with or without seizures	616756	C4225215	OMIM	1	91	21033	610876
HP:0001252	HP:0001252	Hypotonia	0	HADHA CL E G H	3030	746	Apert like polydactyly syndrome			ORPHA	1	477	4801	600890
HP:0001252	HP:0001252	Hypotonia	0	HADHA CL E G H	3030	746	Apert like polydactyly syndrome			ORPHA	1	527	4801	600890
HP:0001252	HP:0001252	Hypotonia	0	HADHA CL E G H	3030	609016	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	609016	CN074230	OMIM	1	477	4801	600890
HP:0001252	HP:0001252	Hypotonia	0	HADHA CL E G H	3030	609016	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	609016	CN074230	OMIM	1	527	4801	600890
HP:0001252	HP:0001252	Hypotonia	0	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	477	4801	600890
HP:0001252	HP:0001252	Hypotonia	0	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	527	4801	600890
HP:0001252	HP:0001252	Hypotonia	0	HADHB CL E G H	3032	746	Apert like polydactyly syndrome			ORPHA	1	213	4803	143450
HP:0001252	HP:0001252	Hypotonia	0	HADHB CL E G H	3032	746	Apert like polydactyly syndrome			ORPHA	1	242	4803	143450
HP:0001252	HP:0001252	Hypotonia	0	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	213	4803	143450
HP:0001252	HP:0001252	Hypotonia	0	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	242	4803	143450
HP:0001252	HP:0001252	Hypotonia	0	HBA1 CL E G H	3039	98791				ORPHA	1	369	4823	141800
HP:0001252	HP:0001252	Hypotonia	0	HBA1 CL E G H	3039	98791				ORPHA	1	375	4823	141800
HP:0001252	HP:0001252	Hypotonia	0	HBA2 CL E G H	3040	98791				ORPHA	1	303	4824	141850
HP:0001252	HP:0001252	Hypotonia	0	HBA2 CL E G H	3040	98791				ORPHA	1	320	4824	141850
HP:0001252	HP:0001252	Hypotonia	0	HDAC4 CL E G H	9759	1001	Branchial arch defects			ORPHA	1	385	14063	605314
HP:0001252	HP:0001252	Hypotonia	0	HDAC4 CL E G H	9759	1001	Branchial arch defects			ORPHA	1	407	14063	605314
HP:0001252	HP:0001252	Hypotonia	0	HESX1 CL E G H	8820	226307				ORPHA	1	63	4877	601802
HP:0001252	HP:0001252	Hypotonia	0	HESX1 CL E G H	8820	226307				ORPHA	1	74	4877	601802
HP:0001252	HP:0001252	Hypotonia	0	HIBCH CL E G H	26275	88639				ORPHA	1	137	4908	610690
HP:0001252	HP:0001252	Hypotonia	0	HIBCH CL E G H	26275	88639				ORPHA	1	153	4908	610690
HP:0001252	HP:0001252	Hypotonia	0	HIRA CL E G H	7290	567				ORPHA	1	437	4916	600237
HP:0001252	HP:0001252	Hypotonia	0	HIRA CL E G H	7290	567				ORPHA	1	442	4916	600237
HP:0001252	HP:0001252	Hypotonia	0	HLCS CL E G H	3141	79242				ORPHA	1	581	4976	609018
HP:0001252	HP:0001252	Hypotonia	0	HLCS CL E G H	3141	79242				ORPHA	1	623	4976	609018
HP:0001252	HP:0001252	Hypotonia	0	HLCS CL E G H	3141	253270	Holocarboxylase synthetase deficiency	253270	C0268581	OMIM	1	581	4976	609018
HP:0001252	HP:0001252	Hypotonia	0	HLCS CL E G H	3141	253270	Holocarboxylase synthetase deficiency	253270	C0268581	OMIM	1	623	4976	609018
HP:0001252	HP:0001252	Hypotonia	0	HNRNPU CL E G H	3192	238769				ORPHA	1	498	5048	602869
HP:0001252	HP:0001252	Hypotonia	0	HNRNPU CL E G H	3192	238769				ORPHA	1	571	5048	602869
HP:0001252	HP:0001252	Hypotonia	0	HPD CL E G H	3242	2118				ORPHA	1	134	5147	609695
HP:0001252	HP:0001252	Hypotonia	0	HPD CL E G H	3242	2118				ORPHA	1	147	5147	609695
HP:0001252	HP:0001252	Hypotonia	0	HPRT1 CL E G H	3251	300322	Lesch-Nyhan syndrome	300322	C0023374	OMIM	1	306	5157	308000
HP:0001252	HP:0001252	Hypotonia	0	HPRT1 CL E G H	3251	300322	Lesch-Nyhan syndrome	300322	C0023374	OMIM	1	320	5157	308000
HP:0001252	HP:0001252	Hypotonia	0	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	1	411	5173	190020
HP:0001252	HP:0001252	Hypotonia	0	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	1	467	5173	190020
HP:0001252	HP:0001252	Hypotonia	0	HSD17B10 CL E G H	3028	300438	2-methyl-3-hydroxybutyric aciduria	300438	C3266731	OMIM	1	202	4800	300256
HP:0001252	HP:0001252	Hypotonia	0	HSD17B10 CL E G H	3028	300438	2-methyl-3-hydroxybutyric aciduria	300438	C3266731	OMIM	1	213	4800	300256
HP:0001252	HP:0001252	Hypotonia	0	HSPD1 CL E G H	3329	612233	Leukodystrophy, hypomyelinating, 4	612233	C2677109	OMIM	1	157	5261	118190
HP:0001252	HP:0001252	Hypotonia	0	HSPD1 CL E G H	3329	612233	Leukodystrophy, hypomyelinating, 4	612233	C2677109	OMIM	1	181	5261	118190
HP:0001252	HP:0001252	Hypotonia	0	HYLS1 CL E G H	219844	475	Acquired hypoprothrombinemia			ORPHA	1	177	26558	610693
HP:0001252	HP:0001252	Hypotonia	0	HYLS1 CL E G H	219844	475	Acquired hypoprothrombinemia			ORPHA	1	199	26558	610693
HP:0001252	HP:0001252	Hypotonia	0	IDH2 CL E G H	3418	613657	D-2-hydroxyglutaric aciduria 2	613657	C3150909	OMIM	1	140	5383	147650
HP:0001252	HP:0001252	Hypotonia	0	IDH2 CL E G H	3418	613657	D-2-hydroxyglutaric aciduria 2	613657	C3150909	OMIM	1	162	5383	147650
HP:0001252	HP:0001252	Hypotonia	0	IDUA CL E G H	3425	93473				ORPHA	1	971	5391	252800
HP:0001252	HP:0001252	Hypotonia	0	IDUA CL E G H	3425	93473				ORPHA	1	1114	5391	252800
HP:0001252	HP:0001252	Hypotonia	0	IFIH1 CL E G H	64135	182250	Singleton-Merten syndrome 1	182250	C4225427	OMIM	1	476	18873	606951
HP:0001252	HP:0001252	Hypotonia	0	IFIH1 CL E G H	64135	182250	Singleton-Merten syndrome 1	182250	C4225427	OMIM	1	718	18873	606951
HP:0001252	HP:0001252	Hypotonia	0	IFT140 CL E G H	9742	65				ORPHA	1	851	29077	614620
HP:0001252	HP:0001252	Hypotonia	0	IFT140 CL E G H	9742	65				ORPHA	1	1098	29077	614620
HP:0001252	HP:0001252	Hypotonia	0	IMPDH1 CL E G H	3614	65				ORPHA	1	283	6052	146690
HP:0001252	HP:0001252	Hypotonia	0	IMPDH1 CL E G H	3614	65				ORPHA	1	345	6052	146690
HP:0001252	HP:0001252	Hypotonia	0	INPP5E CL E G H	56623	220493				ORPHA	1	466	21474	613037
HP:0001252	HP:0001252	Hypotonia	0	INPP5E CL E G H	56623	220493				ORPHA	1	559	21474	613037
HP:0001252	HP:0001252	Hypotonia	0	INPP5E CL E G H	56623	475	Acquired hypoprothrombinemia			ORPHA	1	466	21474	613037
HP:0001252	HP:0001252	Hypotonia	0	INPP5E CL E G H	56623	475	Acquired hypoprothrombinemia			ORPHA	1	559	21474	613037
HP:0001252	HP:0001252	Hypotonia	0	INPP5E CL E G H	56623	1454	Common atrioventricular canal		C0221215	ORPHA	1	466	21474	613037
HP:0001252	HP:0001252	Hypotonia	0	INPP5E CL E G H	56623	1454	Common atrioventricular canal		C0221215	ORPHA	1	559	21474	613037
HP:0001252	HP:0001252	Hypotonia	0	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	466	21474	613037
HP:0001252	HP:0001252	Hypotonia	0	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	559	21474	613037
HP:0001252	HP:0001252	Hypotonia	0	INPP5K CL E G H	51763	559				ORPHA	1	145	33882	607875
HP:0001252	HP:0001252	Hypotonia	0	INPP5K CL E G H	51763	559				ORPHA	1	153	33882	607875
HP:0001252	HP:0001252	Hypotonia	0	INPPL1 CL E G H	3636	2746	Hoyeraal syndrome			ORPHA	1	157	6080	600829
HP:0001252	HP:0001252	Hypotonia	0	INPPL1 CL E G H	3636	2746	Hoyeraal syndrome			ORPHA	1	228	6080	600829
HP:0001252	HP:0001252	Hypotonia	0	INPPL1 CL E G H	3636	258480	Opsismodysplasia	258480	C0432219	OMIM	1	157	6080	600829
HP:0001252	HP:0001252	Hypotonia	0	INPPL1 CL E G H	3636	258480	Opsismodysplasia	258480	C0432219	OMIM	1	228	6080	600829
HP:0001252	HP:0001252	Hypotonia	0	IQCB1 CL E G H	9657	65				ORPHA	1	276	28949	609237
HP:0001252	HP:0001252	Hypotonia	0	IQCB1 CL E G H	9657	65				ORPHA	1	352	28949	609237
HP:0001252	HP:0001252	Hypotonia	0	IQSEC2 CL E G H	23096	819				ORPHA	1	753	29059	300522
HP:0001252	HP:0001252	Hypotonia	0	IQSEC2 CL E G H	23096	819				ORPHA	1	832	29059	300522
HP:0001252	HP:0001252	Hypotonia	0	ISPD CL E G H	729920	899				ORPHA	1	545	37276	614631
HP:0001252	HP:0001252	Hypotonia	0	ISPD CL E G H	729920	899				ORPHA	1	549	37276	614631
HP:0001252	HP:0001252	Hypotonia	0	ITGA3 CL E G H	3675	614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	614748	C3553636	OMIM	1	155	6139	605025
HP:0001252	HP:0001252	Hypotonia	0	ITGA3 CL E G H	3675	614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	614748	C3553636	OMIM	1	168	6139	605025
HP:0001252	HP:0001252	Hypotonia	0	ITGA7 CL E G H	3679	2020				ORPHA	1	523	6143	600536
HP:0001252	HP:0001252	Hypotonia	0	ITGA7 CL E G H	3679	2020				ORPHA	1	628	6143	600536
HP:0001252	HP:0001252	Hypotonia	0	ITGB6 CL E G H	3694	2850				ORPHA	1	90	6161	147558
HP:0001252	HP:0001252	Hypotonia	0	ITGB6 CL E G H	3694	2850				ORPHA	1	92	6161	147558
HP:0001252	HP:0001252	Hypotonia	0	ITPR1 CL E G H	3708	1065	Camptodactyly joint contractures and facial skeletal dysplasia			ORPHA	1	895	6180	147265
HP:0001252	HP:0001252	Hypotonia	0	ITPR1 CL E G H	3708	1065	Camptodactyly joint contractures and facial skeletal dysplasia			ORPHA	1	969	6180	147265
HP:0001252	HP:0001252	Hypotonia	0	IYD CL E G H	389434	95716				ORPHA	1	65	21071	612025
HP:0001252	HP:0001252	Hypotonia	0	JMJD1C CL E G H	221037	567				ORPHA	1	810	12313	604503
HP:0001252	HP:0001252	Hypotonia	0	JMJD1C CL E G H	221037	567				ORPHA	1	899	12313	604503
HP:0001252	HP:0001252	Hypotonia	0	KANK1 CL E G H	23189	612900	Cerebral palsy, spastic quadriplegic, 2	612900	C2752061	OMIM	1	510	19309	607704
HP:0001252	HP:0001252	Hypotonia	0	KANK1 CL E G H	23189	612900	Cerebral palsy, spastic quadriplegic, 2	612900	C2752061	OMIM	1	647	19309	607704
HP:0001252	HP:0001252	Hypotonia	0	KAT6B CL E G H	23522	648				ORPHA	1	396	17582	605880
HP:0001252	HP:0001252	Hypotonia	0	KAT6B CL E G H	23522	648				ORPHA	1	487	17582	605880
HP:0001252	HP:0001252	Hypotonia	0	KAT6B CL E G H	23522	3047				ORPHA	1	396	17582	605880
HP:0001252	HP:0001252	Hypotonia	0	KAT6B CL E G H	23522	3047				ORPHA	1	487	17582	605880
HP:0001252	HP:0001252	Hypotonia	0	KAT6B CL E G H	23522	606170	Genitopatellar syndrome	606170	C1853566	OMIM	1	396	17582	605880
HP:0001252	HP:0001252	Hypotonia	0	KAT6B CL E G H	23522	606170	Genitopatellar syndrome	606170	C1853566	OMIM	1	487	17582	605880
HP:0001252	HP:0001252	Hypotonia	0	KCNAB2 CL E G H	8514	1606				ORPHA	1	88	6229	601142
HP:0001252	HP:0001252	Hypotonia	0	KCNAB2 CL E G H	8514	1606				ORPHA	1	91	6229	601142
HP:0001252	HP:0001252	Hypotonia	0	KCNC3 CL E G H	3748	605259	Spinocerebellar ataxia 13	605259	C1854488	OMIM	1	126	6235	176264
HP:0001252	HP:0001252	Hypotonia	0	KCNC3 CL E G H	3748	605259	Spinocerebellar ataxia 13	605259	C1854488	OMIM	1	166	6235	176264
HP:0001252	HP:0001252	Hypotonia	0	KCNE5 CL E G H	23630	86818				ORPHA	1	191	6241	300328
HP:0001252	HP:0001252	Hypotonia	0	KCNE5 CL E G H	23630	86818				ORPHA	1	206	6241	300328
HP:0001252	HP:0001252	Hypotonia	0	KCNH1 CL E G H	3756	611816	Temple-Baraitser syndrome	611816	C2678486	OMIM	1	177	6250	603305
HP:0001252	HP:0001252	Hypotonia	0	KCNH1 CL E G H	3756	611816	Temple-Baraitser syndrome	611816	C2678486	OMIM	1	277	6250	603305
HP:0001252	HP:0001252	Hypotonia	0	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	177	6250	603305
HP:0001252	HP:0001252	Hypotonia	0	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	277	6250	603305
HP:0001252	HP:0001252	Hypotonia	0	KCNJ10 CL E G H	3766	612780	SeSAME syndrome	612780	C2748572	OMIM	1	289	6256	602208
HP:0001252	HP:0001252	Hypotonia	0	KCNJ10 CL E G H	3766	612780	SeSAME syndrome	612780	C2748572	OMIM	1	319	6256	602208
HP:0001252	HP:0001252	Hypotonia	0	KCNJ13 CL E G H	3769	65				ORPHA	1	146	6259	603208
HP:0001252	HP:0001252	Hypotonia	0	KCNJ13 CL E G H	3769	65				ORPHA	1	174	6259	603208
HP:0001252	HP:0001252	Hypotonia	0	KCNK9 CL E G H	51305	612292	Birk Barel mental retardation dysmorphism syndrome	612292	C2676770	OMIM	1	81	6283	605874
HP:0001252	HP:0001252	Hypotonia	0	KCNK9 CL E G H	51305	612292	Birk Barel mental retardation dysmorphism syndrome	612292	C2676770	OMIM	1	83	6283	605874
HP:0001252	HP:0001252	Hypotonia	0	KCNQ2 CL E G H	3785	306				ORPHA	1	1380	6296	602235
HP:0001252	HP:0001252	Hypotonia	0	KCNQ2 CL E G H	3785	306				ORPHA	1	1534	6296	602235
HP:0001252	HP:0001252	Hypotonia	0	KCNQ2 CL E G H	3785	439218				ORPHA	1	1380	6296	602235
HP:0001252	HP:0001252	Hypotonia	0	KCNQ2 CL E G H	3785	439218				ORPHA	1	1534	6296	602235
HP:0001252	HP:0001252	Hypotonia	0	KCNQ3 CL E G H	3786	306				ORPHA	1	886	6297	602232
HP:0001252	HP:0001252	Hypotonia	0	KCNQ3 CL E G H	3786	306				ORPHA	1	977	6297	602232
HP:0001252	HP:0001252	Hypotonia	0	KDM6A CL E G H	7403	2322				ORPHA	1	502	12637	300128
HP:0001252	HP:0001252	Hypotonia	0	KDM6A CL E G H	7403	2322				ORPHA	1	562	12637	300128
HP:0001252	HP:0001252	Hypotonia	0	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	502	12637	300128
HP:0001252	HP:0001252	Hypotonia	0	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	562	12637	300128
HP:0001252	HP:0001252	Hypotonia	0	KDM6A CL E G H	7403	300867	Kabuki syndrome 2	300867	C3275495	OMIM	1	502	12637	300128
HP:0001252	HP:0001252	Hypotonia	0	KDM6A CL E G H	7403	300867	Kabuki syndrome 2	300867	C3275495	OMIM	1	562	12637	300128
HP:0001252	HP:0001252	Hypotonia	0	KIAA0556 CL E G H	23247	475	Acquired hypoprothrombinemia			ORPHA	1		29068	616650
HP:0001252	HP:0001252	Hypotonia	0	KIAA0586 CL E G H	9786	475	Acquired hypoprothrombinemia			ORPHA	1	338	19960	610178
HP:0001252	HP:0001252	Hypotonia	0	KIAA0586 CL E G H	9786	475	Acquired hypoprothrombinemia			ORPHA	1	662	19960	610178
HP:0001252	HP:0001252	Hypotonia	0	KIF11 CL E G H	3832	2526				ORPHA	1	405	6388	148760
HP:0001252	HP:0001252	Hypotonia	0	KIF11 CL E G H	3832	2526				ORPHA	1	498	6388	148760
HP:0001252	HP:0001252	Hypotonia	0	KIF1A CL E G H	547	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	1441	888	601255
HP:0001252	HP:0001252	Hypotonia	0	KIF1A CL E G H	547	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	1735	888	601255
HP:0001252	HP:0001252	Hypotonia	0	KIF1BP CL E G H	26128	66629				ORPHA	1		23419	609367
HP:0001252	HP:0001252	Hypotonia	0	KIF22 CL E G H	3835	603546	Spondyloepimetaphyseal dysplasia with multiple dislocations	603546	C1863732	OMIM	1	319	6391	603213
HP:0001252	HP:0001252	Hypotonia	0	KIF22 CL E G H	3835	603546	Spondyloepimetaphyseal dysplasia with multiple dislocations	603546	C1863732	OMIM	1	368	6391	603213
HP:0001252	HP:0001252	Hypotonia	0	KMT2A CL E G H	4297	319182				ORPHA	1	673	7132	159555
HP:0001252	HP:0001252	Hypotonia	0	KMT2A CL E G H	4297	319182				ORPHA	1	974	7132	159555
HP:0001252	HP:0001252	Hypotonia	0	KMT2D CL E G H	8085	2322				ORPHA	1	1828	7133	602113
HP:0001252	HP:0001252	Hypotonia	0	KMT2D CL E G H	8085	2322				ORPHA	1	2371	7133	602113
HP:0001252	HP:0001252	Hypotonia	0	KMT2D CL E G H	8085	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	1828	7133	602113
HP:0001252	HP:0001252	Hypotonia	0	KMT2D CL E G H	8085	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	2371	7133	602113
HP:0001252	HP:0001252	Hypotonia	0	KRAS CL E G H	3845	144				ORPHA	1	331	6407	190070
HP:0001252	HP:0001252	Hypotonia	0	KRAS CL E G H	3845	144				ORPHA	1	341	6407	190070
HP:0001252	HP:0001252	Hypotonia	0	KRAS CL E G H	3845	648				ORPHA	1	331	6407	190070
HP:0001252	HP:0001252	Hypotonia	0	KRAS CL E G H	3845	648				ORPHA	1	341	6407	190070
HP:0001252	HP:0001252	Hypotonia	0	KRAS CL E G H	3845	3339				ORPHA	1	331	6407	190070
HP:0001252	HP:0001252	Hypotonia	0	KRAS CL E G H	3845	3339				ORPHA	1	341	6407	190070
HP:0001252	HP:0001252	Hypotonia	0	KRAS CL E G H	3845	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	331	6407	190070
HP:0001252	HP:0001252	Hypotonia	0	KRAS CL E G H	3845	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	341	6407	190070
HP:0001252	HP:0001252	Hypotonia	0	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	1	331	6407	190070
HP:0001252	HP:0001252	Hypotonia	0	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	1	341	6407	190070
HP:0001252	HP:0001252	Hypotonia	0	L2HGDH CL E G H	79944	79314				ORPHA	1	124	20499	609584
HP:0001252	HP:0001252	Hypotonia	0	L2HGDH CL E G H	79944	79314				ORPHA	1	160	20499	609584
HP:0001252	HP:0001252	Hypotonia	0	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	1	2327	6482	156225
HP:0001252	HP:0001252	Hypotonia	0	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	1	2739	6482	156225
HP:0001252	HP:0001252	Hypotonia	0	LAMB2 CL E G H	3913	98915				ORPHA	1	470	6487	150325
HP:0001252	HP:0001252	Hypotonia	0	LAMB2 CL E G H	3913	98915				ORPHA	1	600	6487	150325
HP:0001252	HP:0001252	Hypotonia	0	LAMB2 CL E G H	3913	609049	Pierson syndrome	609049	C1836876	OMIM	1	470	6487	150325
HP:0001252	HP:0001252	Hypotonia	0	LAMB2 CL E G H	3913	609049	Pierson syndrome	609049	C1836876	OMIM	1	600	6487	150325
HP:0001252	HP:0001252	Hypotonia	0	LARGE1 CL E G H	9215	588				ORPHA	1	516	6511	603590
HP:0001252	HP:0001252	Hypotonia	0	LARGE1 CL E G H	9215	588				ORPHA	1	597	6511	603590
HP:0001252	HP:0001252	Hypotonia	0	LARGE1 CL E G H	9215	899				ORPHA	1	516	6511	603590
HP:0001252	HP:0001252	Hypotonia	0	LARGE1 CL E G H	9215	899				ORPHA	1	597	6511	603590
HP:0001252	HP:0001252	Hypotonia	0	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	516	6511	603590
HP:0001252	HP:0001252	Hypotonia	0	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	597	6511	603590
HP:0001252	HP:0001252	Hypotonia	0	LARGE1 CL E G H	9215	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	516	6511	603590
HP:0001252	HP:0001252	Hypotonia	0	LARGE1 CL E G H	9215	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	597	6511	603590
HP:0001252	HP:0001252	Hypotonia	0	LAS1L CL E G H	81887	309585	Wilson-Turner X-linked mental retardation syndrome	309585	C1839736	OMIM	1	211	25726	300964
HP:0001252	HP:0001252	Hypotonia	0	LAS1L CL E G H	81887	309585	Wilson-Turner X-linked mental retardation syndrome	309585	C1839736	OMIM	1	220	25726	300964
HP:0001252	HP:0001252	Hypotonia	0	LCA5 CL E G H	167691	65				ORPHA	1	374	31923	611408
HP:0001252	HP:0001252	Hypotonia	0	LCA5 CL E G H	167691	65				ORPHA	1	458	31923	611408
HP:0001252	HP:0001252	Hypotonia	0	LETM1 CL E G H	3954	280	Halal Setton Wang syndrome			ORPHA	1	188	6556	604407
HP:0001252	HP:0001252	Hypotonia	0	LETM1 CL E G H	3954	280	Halal Setton Wang syndrome			ORPHA	1	228	6556	604407
HP:0001252	HP:0001252	Hypotonia	0	LGI4 CL E G H	163175	2680				ORPHA	1	74	18712	608303
HP:0001252	HP:0001252	Hypotonia	0	LGI4 CL E G H	163175	2680				ORPHA	1	79	18712	608303
HP:0001252	HP:0001252	Hypotonia	0	LHX3 CL E G H	8022	226307				ORPHA	1	282	6595	600577
HP:0001252	HP:0001252	Hypotonia	0	LHX3 CL E G H	8022	226307				ORPHA	1	300	6595	600577
HP:0001252	HP:0001252	Hypotonia	0	LHX4 CL E G H	89884	226307				ORPHA	1	131	21734	602146
HP:0001252	HP:0001252	Hypotonia	0	LHX4 CL E G H	89884	226307				ORPHA	1	135	21734	602146
HP:0001252	HP:0001252	Hypotonia	0	LIFR CL E G H	3977	601559	Stuve-Wiedemann syndrome	601559	C0796176	OMIM	1	554	6597	151443
HP:0001252	HP:0001252	Hypotonia	0	LIFR CL E G H	3977	601559	Stuve-Wiedemann syndrome	601559	C0796176	OMIM	1	610	6597	151443
HP:0001252	HP:0001252	Hypotonia	0	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	196	6613	601329
HP:0001252	HP:0001252	Hypotonia	0	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	197	6613	601329
HP:0001252	HP:0001252	Hypotonia	0	LIPT1 CL E G H	51601	255241				ORPHA	1	73	29569	610284
HP:0001252	HP:0001252	Hypotonia	0	LIPT1 CL E G H	51601	255241				ORPHA	1	90	29569	610284
HP:0001252	HP:0001252	Hypotonia	0	LMBRD1 CL E G H	55788	79284				ORPHA	1	157	23038	612625
HP:0001252	HP:0001252	Hypotonia	0	LMBRD1 CL E G H	55788	79284				ORPHA	1	193	23038	612625
HP:0001252	HP:0001252	Hypotonia	0	LMBRD1 CL E G H	55788	277380	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE	277380	C1848578	OMIM	1	157	23038	612625
HP:0001252	HP:0001252	Hypotonia	0	LMBRD1 CL E G H	55788	277380	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE	277380	C1848578	OMIM	1	193	23038	612625
HP:0001252	HP:0001252	Hypotonia	0	LMNA CL E G H	4000	157973				ORPHA	1	1347	6636	150330
HP:0001252	HP:0001252	Hypotonia	0	LMNA CL E G H	4000	157973				ORPHA	1	1486	6636	150330
HP:0001252	HP:0001252	Hypotonia	0	LONP1 CL E G H	9361	1458				ORPHA	1	221	9479	605490
HP:0001252	HP:0001252	Hypotonia	0	LONP1 CL E G H	9361	1458				ORPHA	1	357	9479	605490
HP:0001252	HP:0001252	Hypotonia	0	LONP1 CL E G H	9361	600373	CODAS syndrome	600373	C1838180	OMIM	1	221	9479	605490
HP:0001252	HP:0001252	Hypotonia	0	LONP1 CL E G H	9361	600373	CODAS syndrome	600373	C1838180	OMIM	1	357	9479	605490
HP:0001252	HP:0001252	Hypotonia	0	LRAT CL E G H	9227	65				ORPHA	1	182	6685	604863
HP:0001252	HP:0001252	Hypotonia	0	LRAT CL E G H	9227	65				ORPHA	1	205	6685	604863
HP:0001252	HP:0001252	Hypotonia	0	LRP5 CL E G H	4041	259770	Osteoporosis with pseudoglioma	259770	C0432252	OMIM	1	861	6697	603506
HP:0001252	HP:0001252	Hypotonia	0	LRP5 CL E G H	4041	259770	Osteoporosis with pseudoglioma	259770