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:0002072	HP:0002072	Chorea	0	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0002072	HP:0002072	Chorea	0	ACAT2 CL E G H	39	614055	Acetyl-CoA acetyltransferase-2 deficiency	614055	C0342735	OMIM	1	56	94	100678
HP:0002072	HP:0002072	Chorea	0	ADCY5 CL E G H	111	324588				ORPHA	1	653	236	600293
HP:0002072	HP:0002072	Chorea	0	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	653	236	600293
HP:0002072	HP:0002072	Chorea	0	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	1140	713	607574
HP:0002072	HP:0002072	Chorea	0	ATXN1 CL E G H	6310	98755				ORPHA	1	120	10548	601556
HP:0002072	HP:0002072	Chorea	0	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	120	10548	601556
HP:0002072	HP:0002072	Chorea	0	ATXN2 CL E G H	6311	98756				ORPHA	1	115	10555	601517
HP:0002072	HP:0002072	Chorea	0	ATXN7 CL E G H	6314	164500	Spinocerebellar ataxia 7	164500	C0752125	OMIM	1	98	10560	607640
HP:0002072	HP:0002072	Chorea	0	C9orf72 CL E G H	203228	401901				ORPHA	1	177	28337	614260
HP:0002072	HP:0002072	Chorea	0	CARS2 CL E G H	79587	616672	Combined oxidative phosphorylation deficiency 27	616672	C4225251	OMIM	1	825	25695	612800
HP:0002072	HP:0002072	Chorea	0	CHMP1A CL E G H	5119	614961	Pontocerebellar hypoplasia type 8	614961	C3554209	OMIM	1	248	8740	164010
HP:0002072	HP:0002072	Chorea	0	CP CL E G H	1356	48818				ORPHA	1	831	2295	117700
HP:0002072	HP:0002072	Chorea	0	CTDP1 CL E G H	9150	604168	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	604168	C1858726	OMIM	1	637	2498	604927
HP:0002072	HP:0002072	Chorea	0	DHX30 CL E G H	22907	617804	NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE	617804	C4540496	OMIM	1	162	16716	616423
HP:0002072	HP:0002072	Chorea	0	FOXG1 CL E G H	2290	613454	Rett syndrome, congenital variant	613454	C3150705	OMIM	1	725	3811	164874
HP:0002072	HP:0002072	Chorea	0	FTL CL E G H	2512	157846				ORPHA	1	185	3999	134790
HP:0002072	HP:0002072	Chorea	0	GM2A CL E G H	2760	309246				ORPHA	1	212	4367	613109
HP:0002072	HP:0002072	Chorea	0	GM2A CL E G H	2760	272750	Tay-Sachs disease, variant AB	272750	C0268275	OMIM	1	212	4367	613109
HP:0002072	HP:0002072	Chorea	0	GNAO1 CL E G H	2775	617493	Neurodevelopmental disorder with involuntary movements	617493	C4479569	OMIM	1	429	4389	139311
HP:0002072	HP:0002072	Chorea	0	GPR88 CL E G H	54112	616939	Chorea, childhood-onset, with psychomotor retardation	616939	C4310787	OMIM	1	69	4539	607468
HP:0002072	HP:0002072	Chorea	0	GRIA4 CL E G H	2893	617864	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES	617864	CN800195	OMIM	1	129	4574	138246
HP:0002072	HP:0002072	Chorea	0	GRIN1 CL E G H	2902	614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	614254	C3280282	OMIM	1	929	4584	138249
HP:0002072	HP:0002072	Chorea	0	GRIN2B CL E G H	2904	616139	Epileptic encephalopathy, early infantile, 27	616139	C4015316	OMIM	1	1353	4586	138252
HP:0002072	HP:0002072	Chorea	0	GRIN2B CL E G H	2904	613970	Mental retardation, autosomal dominant 6	613970	C3151411	OMIM	1	1353	4586	138252
HP:0002072	HP:0002072	Chorea	0	HTT CL E G H	3064	248111				ORPHA	1	760	4851	613004
HP:0002072	HP:0002072	Chorea	0	HTT CL E G H	3064	143100	Huntington's chorea	143100	C0020179	OMIM	1	760	4851	613004
HP:0002072	HP:0002072	Chorea	0	JPH3 CL E G H	57338	606438	Huntington disease-like 2	606438	C1847987	OMIM	1	176	14203	605268
HP:0002072	HP:0002072	Chorea	0	KCNA1 CL E G H	3736	98809	Paroxysmal kinesigenic dyskinesia		CN207123	ORPHA	1	575	6218	176260
HP:0002072	HP:0002072	Chorea	0	KIF1C CL E G H	10749	397946				ORPHA	1	579	6317	603060
HP:0002072	HP:0002072	Chorea	0	KIF5A CL E G H	3798	617235	Myoclonus, intractable, neonatal	617235	C4310658	OMIM	1	1014	6323	602821
HP:0002072	HP:0002072	Chorea	0	MECP2 CL E G H	4204	300260	MECP2 duplication syndrome	300260	C1846058	OMIM	1	1925	6990	300005
HP:0002072	HP:0002072	Chorea	0	MECR CL E G H	51102	617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	617282	C4310634	OMIM	1	151	19691	608205
HP:0002072	HP:0002072	Chorea	0	MICU1 CL E G H	10367	401768				ORPHA	1	265	1530	605084
HP:0002072	HP:0002072	Chorea	0	MRE11 CL E G H	4361	251347				ORPHA	1	1911	7230	600814
HP:0002072	HP:0002072	Chorea	0	MRE11 CL E G H	4361	604391	Ataxia-telangiectasia-like disorder 1	604391	C1858391	OMIM	1	1911	7230	600814
HP:0002072	HP:0002072	Chorea	0	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	1	656	17646	610661
HP:0002072	HP:0002072	Chorea	0	NKX2-1 CL E G H	7080	118700	Benign hereditary chorea	118700	C0393584	OMIM	1	317	11825	600635
HP:0002072	HP:0002072	Chorea	0	OPA3 CL E G H	80207	258501	3-Methylglutaconic aciduria type 3	258501	C0574084	OMIM	1	523	8142	606580
HP:0002072	HP:0002072	Chorea	0	PDE10A CL E G H	10846	494526				ORPHA	1	222	8772	610652
HP:0002072	HP:0002072	Chorea	0	PDE10A CL E G H	10846	494541				ORPHA	1	222	8772	610652
HP:0002072	HP:0002072	Chorea	0	PDE10A CL E G H	10846	616921	Dyskinesia, limb and orofacial, infantile-onset	616921	C4310792	OMIM	1	222	8772	610652
HP:0002072	HP:0002072	Chorea	0	PDE10A CL E G H	10846	616922	Striatal degeneration, autosomal dominant 2	616922	C4310791	OMIM	1	222	8772	610652
HP:0002072	HP:0002072	Chorea	0	PDGFB CL E G H	5155	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	151	8800	190040
HP:0002072	HP:0002072	Chorea	0	PDGFB CL E G H	5155	615483	Idiopathic basal ganglia calcification 5	615483	C3809645	OMIM	1	151	8800	190040
HP:0002072	HP:0002072	Chorea	0	PDGFRB CL E G H	5159	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	531	8804	173410
HP:0002072	HP:0002072	Chorea	0	PITX3 CL E G H	5309	610623	Cataract 11	610623	C1864567	OMIM	1	54	9006	602669
HP:0002072	HP:0002072	Chorea	0	PLA2G6 CL E G H	8398	610217	Neurodegeneration with brain iron accumulation 2b	610217	C1857747	OMIM	1	775	9039	603604
HP:0002072	HP:0002072	Chorea	0	PRNP CL E G H	5621	157941				ORPHA	1	191	9449	176640
HP:0002072	HP:0002072	Chorea	0	PRNP CL E G H	5621	603218	Huntington disease-like 1	603218	C1864112	OMIM	1	191	9449	176640
HP:0002072	HP:0002072	Chorea	0	PRRT2 CL E G H	112476	98809	Paroxysmal kinesigenic dyskinesia		CN207123	ORPHA	1	799	30500	614386
HP:0002072	HP:0002072	Chorea	0	PUM1 CL E G H	9698	617931	SPINOCEREBELLAR ATAXIA 47	617931	CN244564	OMIM	1	175	14957	607204
HP:0002072	HP:0002072	Chorea	0	RHOBTB2 CL E G H	23221	618004	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64	618004	CN248512	OMIM	1	592	18756	607352
HP:0002072	HP:0002072	Chorea	0	SEPSECS CL E G H	51091	613811	Pontocerebellar hypoplasia type 2D	613811	C3151140	OMIM	1	481	30605	613009
HP:0002072	HP:0002072	Chorea	0	SLC20A2 CL E G H	6575	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	337	10947	158378
HP:0002072	HP:0002072	Chorea	0	SLC6A3 CL E G H	6531	238455				ORPHA	1	583	11049	126455
HP:0002072	HP:0002072	Chorea	0	SLC6A3 CL E G H	6531	613135	Infantile Parkinsonism-dystonia	613135	C2751067	OMIM	1	583	11049	126455
HP:0002072	HP:0002072	Chorea	0	SLC6A8 CL E G H	6535	52503				ORPHA	1	1062	11055	300036
HP:0002072	HP:0002072	Chorea	0	TAF1 CL E G H	6872	53351				ORPHA	1	534	11535	313650
HP:0002072	HP:0002072	Chorea	0	TAF1 CL E G H	6872	314250	Dystonia 3, torsion, X-linked	314250	C1839130	OMIM	1	534	11535	313650
HP:0002072	HP:0002072	Chorea	0	TBP CL E G H	6908	98759				ORPHA	1	131	11588	600075
HP:0002072	HP:0002072	Chorea	0	TBP CL E G H	6908	607136	Spinocerebellar ataxia 17	607136	C1846707	OMIM	1	131	11588	600075
HP:0002072	HP:0002072	Chorea	0	TRAPPC11 CL E G H	60684	369847				ORPHA	1	983	25751	614138
HP:0002072	HP:0002072	Chorea	0	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	1	983	25751	614138
HP:0002072	HP:0002072	Chorea	0	TREM2 CL E G H	54209	2770				ORPHA	1	154	17761	605086
HP:0002072	HP:0002072	Chorea	0	TSEN2 CL E G H	80746	612389	Pontocerebellar hypoplasia type 2B	612389	C2676466	OMIM	1	280	28422	608753
HP:0002072	HP:0002072	Chorea	0	TSEN34 CL E G H	79042	612390	Pontocerebellar hypoplasia type 2C	612390	C2676465	OMIM	1	168	15506	608754
HP:0002072	HP:0002072	Chorea	0	TYROBP CL E G H	7305	2770				ORPHA	1	110	12449	604142
HP:0002072	HP:0002072	Chorea	0	UBTF CL E G H	7343	617672	NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY	617672	C4540086	OMIM	1	84	12511	600673
HP:0002072	HP:0002072	Chorea	0	VPS13A CL E G H	23230	2388				ORPHA	1	2362	1908	605978
HP:0002072	HP:0001266	Choreoathetosis	1	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0002072	HP:0001266	Choreoathetosis	1	ACAT2 CL E G H	39	614055	Acetyl-CoA acetyltransferase-2 deficiency	614055	C0342735	OMIM	1	56	94	100678
HP:0002072	HP:0001266	Choreoathetosis	1	ADCY5 CL E G H	111	324588				ORPHA	1	653	236	600293
HP:0002072	HP:0001266	Choreoathetosis	1	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	653	236	600293
HP:0002072	HP:0001266	Choreoathetosis	1	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	1140	713	607574
HP:0002072	HP:0001266	Choreoathetosis	1	ATXN1 CL E G H	6310	98755				ORPHA	1	120	10548	601556
HP:0002072	HP:0001266	Choreoathetosis	1	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	120	10548	601556
HP:0002072	HP:0001266	Choreoathetosis	1	ATXN2 CL E G H	6311	98756				ORPHA	1	115	10555	601517
HP:0002072	HP:0001266	Choreoathetosis	1	ATXN7 CL E G H	6314	164500	Spinocerebellar ataxia 7	164500	C0752125	OMIM	1	98	10560	607640
HP:0002072	HP:0001266	Choreoathetosis	1	C9orf72 CL E G H	203228	401901				ORPHA	1	177	28337	614260
HP:0002072	HP:0001266	Choreoathetosis	1	CARS2 CL E G H	79587	616672	Combined oxidative phosphorylation deficiency 27	616672	C4225251	OMIM	1	825	25695	612800
HP:0002072	HP:0001266	Choreoathetosis	1	CHMP1A CL E G H	5119	614961	Pontocerebellar hypoplasia type 8	614961	C3554209	OMIM	1	248	8740	164010
HP:0002072	HP:0001266	Choreoathetosis	1	CP CL E G H	1356	48818				ORPHA	1	831	2295	117700
HP:0002072	HP:0001266	Choreoathetosis	1	CTDP1 CL E G H	9150	604168	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	604168	C1858726	OMIM	1	637	2498	604927
HP:0002072	HP:0001266	Choreoathetosis	1	DHX30 CL E G H	22907	617804	NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE	617804	C4540496	OMIM	1	162	16716	616423
HP:0002072	HP:0001266	Choreoathetosis	1	FOXG1 CL E G H	2290	613454	Rett syndrome, congenital variant	613454	C3150705	OMIM	1	725	3811	164874
HP:0002072	HP:0001266	Choreoathetosis	1	FTL CL E G H	2512	157846				ORPHA	1	185	3999	134790
HP:0002072	HP:0001266	Choreoathetosis	1	GM2A CL E G H	2760	309246				ORPHA	1	212	4367	613109
HP:0002072	HP:0001266	Choreoathetosis	1	GM2A CL E G H	2760	272750	Tay-Sachs disease, variant AB	272750	C0268275	OMIM	1	212	4367	613109
HP:0002072	HP:0001266	Choreoathetosis	1	GNAO1 CL E G H	2775	617493	Neurodevelopmental disorder with involuntary movements	617493	C4479569	OMIM	1	429	4389	139311
HP:0002072	HP:0001266	Choreoathetosis	1	GPR88 CL E G H	54112	616939	Chorea, childhood-onset, with psychomotor retardation	616939	C4310787	OMIM	1	69	4539	607468
HP:0002072	HP:0001266	Choreoathetosis	1	GRIA4 CL E G H	2893	617864	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES	617864	CN800195	OMIM	1	129	4574	138246
HP:0002072	HP:0001266	Choreoathetosis	1	GRIN1 CL E G H	2902	614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	614254	C3280282	OMIM	1	929	4584	138249
HP:0002072	HP:0001266	Choreoathetosis	1	GRIN2B CL E G H	2904	616139	Epileptic encephalopathy, early infantile, 27	616139	C4015316	OMIM	1	1353	4586	138252
HP:0002072	HP:0001266	Choreoathetosis	1	GRIN2B CL E G H	2904	613970	Mental retardation, autosomal dominant 6	613970	C3151411	OMIM	1	1353	4586	138252
HP:0002072	HP:0001266	Choreoathetosis	1	HTT CL E G H	3064	248111				ORPHA	1	760	4851	613004
HP:0002072	HP:0001266	Choreoathetosis	1	HTT CL E G H	3064	143100	Huntington's chorea	143100	C0020179	OMIM	1	760	4851	613004
HP:0002072	HP:0001266	Choreoathetosis	1	JPH3 CL E G H	57338	606438	Huntington disease-like 2	606438	C1847987	OMIM	1	176	14203	605268
HP:0002072	HP:0001266	Choreoathetosis	1	KCNA1 CL E G H	3736	98809	Paroxysmal kinesigenic dyskinesia		CN207123	ORPHA	1	575	6218	176260
HP:0002072	HP:0001266	Choreoathetosis	1	KIF1C CL E G H	10749	397946				ORPHA	1	579	6317	603060
HP:0002072	HP:0001266	Choreoathetosis	1	KIF5A CL E G H	3798	617235	Myoclonus, intractable, neonatal	617235	C4310658	OMIM	1	1014	6323	602821
HP:0002072	HP:0001266	Choreoathetosis	1	MECP2 CL E G H	4204	300260	MECP2 duplication syndrome	300260	C1846058	OMIM	1	1925	6990	300005
HP:0002072	HP:0001266	Choreoathetosis	1	MECR CL E G H	51102	617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	617282	C4310634	OMIM	1	151	19691	608205
HP:0002072	HP:0001266	Choreoathetosis	1	MICU1 CL E G H	10367	401768				ORPHA	1	265	1530	605084
HP:0002072	HP:0001266	Choreoathetosis	1	MRE11 CL E G H	4361	251347				ORPHA	1	1911	7230	600814
HP:0002072	HP:0001266	Choreoathetosis	1	MRE11 CL E G H	4361	604391	Ataxia-telangiectasia-like disorder 1	604391	C1858391	OMIM	1	1911	7230	600814
HP:0002072	HP:0001266	Choreoathetosis	1	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	1	656	17646	610661
HP:0002072	HP:0001266	Choreoathetosis	1	NKX2-1 CL E G H	7080	118700	Benign hereditary chorea	118700	C0393584	OMIM	1	317	11825	600635
HP:0002072	HP:0001266	Choreoathetosis	1	OPA3 CL E G H	80207	258501	3-Methylglutaconic aciduria type 3	258501	C0574084	OMIM	1	523	8142	606580
HP:0002072	HP:0001266	Choreoathetosis	1	PDE10A CL E G H	10846	494526				ORPHA	1	222	8772	610652
HP:0002072	HP:0001266	Choreoathetosis	1	PDE10A CL E G H	10846	494541				ORPHA	1	222	8772	610652
HP:0002072	HP:0001266	Choreoathetosis	1	PDE10A CL E G H	10846	616921	Dyskinesia, limb and orofacial, infantile-onset	616921	C4310792	OMIM	1	222	8772	610652
HP:0002072	HP:0001266	Choreoathetosis	1	PDE10A CL E G H	10846	616922	Striatal degeneration, autosomal dominant 2	616922	C4310791	OMIM	1	222	8772	610652
HP:0002072	HP:0001266	Choreoathetosis	1	PDGFB CL E G H	5155	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	151	8800	190040
HP:0002072	HP:0001266	Choreoathetosis	1	PDGFB CL E G H	5155	615483	Idiopathic basal ganglia calcification 5	615483	C3809645	OMIM	1	151	8800	190040
HP:0002072	HP:0001266	Choreoathetosis	1	PDGFRB CL E G H	5159	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	531	8804	173410
HP:0002072	HP:0001266	Choreoathetosis	1	PITX3 CL E G H	5309	610623	Cataract 11	610623	C1864567	OMIM	1	54	9006	602669
HP:0002072	HP:0001266	Choreoathetosis	1	PLA2G6 CL E G H	8398	610217	Neurodegeneration with brain iron accumulation 2b	610217	C1857747	OMIM	1	775	9039	603604
HP:0002072	HP:0001266	Choreoathetosis	1	PRNP CL E G H	5621	157941				ORPHA	1	191	9449	176640
HP:0002072	HP:0001266	Choreoathetosis	1	PRNP CL E G H	5621	603218	Huntington disease-like 1	603218	C1864112	OMIM	1	191	9449	176640
HP:0002072	HP:0001266	Choreoathetosis	1	PRRT2 CL E G H	112476	98809	Paroxysmal kinesigenic dyskinesia		CN207123	ORPHA	1	799	30500	614386
HP:0002072	HP:0001266	Choreoathetosis	1	PUM1 CL E G H	9698	617931	SPINOCEREBELLAR ATAXIA 47	617931	CN244564	OMIM	1	175	14957	607204
HP:0002072	HP:0001266	Choreoathetosis	1	RHOBTB2 CL E G H	23221	618004	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64	618004	CN248512	OMIM	1	592	18756	607352
HP:0002072	HP:0001266	Choreoathetosis	1	SEPSECS CL E G H	51091	613811	Pontocerebellar hypoplasia type 2D	613811	C3151140	OMIM	1	481	30605	613009
HP:0002072	HP:0001266	Choreoathetosis	1	SLC20A2 CL E G H	6575	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	337	10947	158378
HP:0002072	HP:0001266	Choreoathetosis	1	SLC6A3 CL E G H	6531	238455				ORPHA	1	583	11049	126455
HP:0002072	HP:0001266	Choreoathetosis	1	SLC6A3 CL E G H	6531	613135	Infantile Parkinsonism-dystonia	613135	C2751067	OMIM	1	583	11049	126455
HP:0002072	HP:0001266	Choreoathetosis	1	SLC6A8 CL E G H	6535	52503				ORPHA	1	1062	11055	300036
HP:0002072	HP:0001266	Choreoathetosis	1	TAF1 CL E G H	6872	53351				ORPHA	1	534	11535	313650
HP:0002072	HP:0001266	Choreoathetosis	1	TAF1 CL E G H	6872	314250	Dystonia 3, torsion, X-linked	314250	C1839130	OMIM	1	534	11535	313650
HP:0002072	HP:0001266	Choreoathetosis	1	TBP CL E G H	6908	98759				ORPHA	1	131	11588	600075
HP:0002072	HP:0001266	Choreoathetosis	1	TBP CL E G H	6908	607136	Spinocerebellar ataxia 17	607136	C1846707	OMIM	1	131	11588	600075
HP:0002072	HP:0001266	Choreoathetosis	1	TRAPPC11 CL E G H	60684	369847				ORPHA	1	983	25751	614138
HP:0002072	HP:0001266	Choreoathetosis	1	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	1	983	25751	614138
HP:0002072	HP:0001266	Choreoathetosis	1	TREM2 CL E G H	54209	2770				ORPHA	1	154	17761	605086
HP:0002072	HP:0001266	Choreoathetosis	1	TSEN2 CL E G H	80746	612389	Pontocerebellar hypoplasia type 2B	612389	C2676466	OMIM	1	280	28422	608753
HP:0002072	HP:0001266	Choreoathetosis	1	TSEN34 CL E G H	79042	612390	Pontocerebellar hypoplasia type 2C	612390	C2676465	OMIM	1	168	15506	608754
HP:0002072	HP:0001266	Choreoathetosis	1	TYROBP CL E G H	7305	2770				ORPHA	1	110	12449	604142
HP:0002072	HP:0001266	Choreoathetosis	1	UBTF CL E G H	7343	617672	NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY	617672	C4540086	OMIM	1	84	12511	600673
HP:0002072	HP:0001266	Choreoathetosis	1	VPS13A CL E G H	23230	2388				ORPHA	1	2362	1908	605978
HP:0002072	HP:0007326	Progressive choreoathetosis	2	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0002072	HP:0007326	Progressive choreoathetosis	2	ACAT2 CL E G H	39	614055	Acetyl-CoA acetyltransferase-2 deficiency	614055	C0342735	OMIM	1	56	94	100678
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	ACAT2 CL E G H	39	614055	Acetyl-CoA acetyltransferase-2 deficiency	614055	C0342735	OMIM	1	56	94	100678
HP:0002072	HP:0007326	Progressive choreoathetosis	2	ADCY5 CL E G H	111	324588				ORPHA	1	653	236	600293
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	ADCY5 CL E G H	111	324588				ORPHA	1	653	236	600293
HP:0002072	HP:0007326	Progressive choreoathetosis	2	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	653	236	600293
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	653	236	600293
HP:0002072	HP:0007326	Progressive choreoathetosis	2	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	1140	713	607574
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	1140	713	607574
HP:0002072	HP:0007326	Progressive choreoathetosis	2	ATXN1 CL E G H	6310	98755				ORPHA	1	120	10548	601556
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	ATXN1 CL E G H	6310	98755				ORPHA	1	120	10548	601556
HP:0002072	HP:0007326	Progressive choreoathetosis	2	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	120	10548	601556
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	120	10548	601556
HP:0002072	HP:0007326	Progressive choreoathetosis	2	ATXN2 CL E G H	6311	98756				ORPHA	1	115	10555	601517
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	ATXN2 CL E G H	6311	98756				ORPHA	1	115	10555	601517
HP:0002072	HP:0007326	Progressive choreoathetosis	2	ATXN7 CL E G H	6314	164500	Spinocerebellar ataxia 7	164500	C0752125	OMIM	1	98	10560	607640
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	ATXN7 CL E G H	6314	164500	Spinocerebellar ataxia 7	164500	C0752125	OMIM	1	98	10560	607640
HP:0002072	HP:0007326	Progressive choreoathetosis	2	C9orf72 CL E G H	203228	401901				ORPHA	1	177	28337	614260
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	C9orf72 CL E G H	203228	401901				ORPHA	1	177	28337	614260
HP:0002072	HP:0007326	Progressive choreoathetosis	2	CARS2 CL E G H	79587	616672	Combined oxidative phosphorylation deficiency 27	616672	C4225251	OMIM	1	825	25695	612800
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	CARS2 CL E G H	79587	616672	Combined oxidative phosphorylation deficiency 27	616672	C4225251	OMIM	1	825	25695	612800
HP:0002072	HP:0007326	Progressive choreoathetosis	2	CHMP1A CL E G H	5119	614961	Pontocerebellar hypoplasia type 8	614961	C3554209	OMIM	1	248	8740	164010
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	CHMP1A CL E G H	5119	614961	Pontocerebellar hypoplasia type 8	614961	C3554209	OMIM	1	248	8740	164010
HP:0002072	HP:0007326	Progressive choreoathetosis	2	CP CL E G H	1356	48818				ORPHA	1	831	2295	117700
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	CP CL E G H	1356	48818				ORPHA	1	831	2295	117700
HP:0002072	HP:0007326	Progressive choreoathetosis	2	CTDP1 CL E G H	9150	604168	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	604168	C1858726	OMIM	1	637	2498	604927
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	CTDP1 CL E G H	9150	604168	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	604168	C1858726	OMIM	1	637	2498	604927
HP:0002072	HP:0007326	Progressive choreoathetosis	2	DHX30 CL E G H	22907	617804	NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE	617804	C4540496	OMIM	1	162	16716	616423
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	DHX30 CL E G H	22907	617804	NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE	617804	C4540496	OMIM	1	162	16716	616423
HP:0002072	HP:0007326	Progressive choreoathetosis	2	FOXG1 CL E G H	2290	613454	Rett syndrome, congenital variant	613454	C3150705	OMIM	1	725	3811	164874
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	FOXG1 CL E G H	2290	613454	Rett syndrome, congenital variant	613454	C3150705	OMIM	1	725	3811	164874
HP:0002072	HP:0007326	Progressive choreoathetosis	2	FTL CL E G H	2512	157846				ORPHA	1	185	3999	134790
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	FTL CL E G H	2512	157846				ORPHA	1	185	3999	134790
HP:0002072	HP:0007326	Progressive choreoathetosis	2	GM2A CL E G H	2760	309246				ORPHA	1	212	4367	613109
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	GM2A CL E G H	2760	309246				ORPHA	1	212	4367	613109
HP:0002072	HP:0007326	Progressive choreoathetosis	2	GM2A CL E G H	2760	272750	Tay-Sachs disease, variant AB	272750	C0268275	OMIM	1	212	4367	613109
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	GM2A CL E G H	2760	272750	Tay-Sachs disease, variant AB	272750	C0268275	OMIM	1	212	4367	613109
HP:0002072	HP:0007326	Progressive choreoathetosis	2	GNAO1 CL E G H	2775	617493	Neurodevelopmental disorder with involuntary movements	617493	C4479569	OMIM	1	429	4389	139311
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	GNAO1 CL E G H	2775	617493	Neurodevelopmental disorder with involuntary movements	617493	C4479569	OMIM	1	429	4389	139311
HP:0002072	HP:0007326	Progressive choreoathetosis	2	GPR88 CL E G H	54112	616939	Chorea, childhood-onset, with psychomotor retardation	616939	C4310787	OMIM	1	69	4539	607468
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	GPR88 CL E G H	54112	616939	Chorea, childhood-onset, with psychomotor retardation	616939	C4310787	OMIM	1	69	4539	607468
HP:0002072	HP:0007326	Progressive choreoathetosis	2	GRIA4 CL E G H	2893	617864	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES	617864	CN800195	OMIM	1	129	4574	138246
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	GRIA4 CL E G H	2893	617864	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES	617864	CN800195	OMIM	1	129	4574	138246
HP:0002072	HP:0007326	Progressive choreoathetosis	2	GRIN1 CL E G H	2902	614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	614254	C3280282	OMIM	1	929	4584	138249
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	GRIN1 CL E G H	2902	614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	614254	C3280282	OMIM	1	929	4584	138249
HP:0002072	HP:0007326	Progressive choreoathetosis	2	GRIN2B CL E G H	2904	616139	Epileptic encephalopathy, early infantile, 27	616139	C4015316	OMIM	1	1353	4586	138252
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	GRIN2B CL E G H	2904	616139	Epileptic encephalopathy, early infantile, 27	616139	C4015316	OMIM	1	1353	4586	138252
HP:0002072	HP:0007326	Progressive choreoathetosis	2	GRIN2B CL E G H	2904	613970	Mental retardation, autosomal dominant 6	613970	C3151411	OMIM	1	1353	4586	138252
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	GRIN2B CL E G H	2904	613970	Mental retardation, autosomal dominant 6	613970	C3151411	OMIM	1	1353	4586	138252
HP:0002072	HP:0007326	Progressive choreoathetosis	2	HTT CL E G H	3064	248111				ORPHA	1	760	4851	613004
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	HTT CL E G H	3064	248111				ORPHA	1	760	4851	613004
HP:0002072	HP:0007326	Progressive choreoathetosis	2	HTT CL E G H	3064	143100	Huntington's chorea	143100	C0020179	OMIM	1	760	4851	613004
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	HTT CL E G H	3064	143100	Huntington's chorea	143100	C0020179	OMIM	1	760	4851	613004
HP:0002072	HP:0007326	Progressive choreoathetosis	2	JPH3 CL E G H	57338	606438	Huntington disease-like 2	606438	C1847987	OMIM	1	176	14203	605268
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	JPH3 CL E G H	57338	606438	Huntington disease-like 2	606438	C1847987	OMIM	1	176	14203	605268
HP:0002072	HP:0007326	Progressive choreoathetosis	2	KCNA1 CL E G H	3736	98809	Paroxysmal kinesigenic dyskinesia		CN207123	ORPHA	1	575	6218	176260
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	KCNA1 CL E G H	3736	98809	Paroxysmal kinesigenic dyskinesia		CN207123	ORPHA	1	575	6218	176260
HP:0002072	HP:0007326	Progressive choreoathetosis	2	KIF1C CL E G H	10749	397946				ORPHA	1	579	6317	603060
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	KIF1C CL E G H	10749	397946				ORPHA	1	579	6317	603060
HP:0002072	HP:0007326	Progressive choreoathetosis	2	KIF5A CL E G H	3798	617235	Myoclonus, intractable, neonatal	617235	C4310658	OMIM	1	1014	6323	602821
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	KIF5A CL E G H	3798	617235	Myoclonus, intractable, neonatal	617235	C4310658	OMIM	1	1014	6323	602821
HP:0002072	HP:0007326	Progressive choreoathetosis	2	MECP2 CL E G H	4204	300260	MECP2 duplication syndrome	300260	C1846058	OMIM	1	1925	6990	300005
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	MECP2 CL E G H	4204	300260	MECP2 duplication syndrome	300260	C1846058	OMIM	1	1925	6990	300005
HP:0002072	HP:0007326	Progressive choreoathetosis	2	MECR CL E G H	51102	617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	617282	C4310634	OMIM	1	151	19691	608205
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	MECR CL E G H	51102	617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	617282	C4310634	OMIM	1	151	19691	608205
HP:0002072	HP:0007326	Progressive choreoathetosis	2	MICU1 CL E G H	10367	401768				ORPHA	1	265	1530	605084
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	MICU1 CL E G H	10367	401768				ORPHA	1	265	1530	605084
HP:0002072	HP:0007326	Progressive choreoathetosis	2	MRE11 CL E G H	4361	251347				ORPHA	1	1911	7230	600814
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	MRE11 CL E G H	4361	251347				ORPHA	1	1911	7230	600814
HP:0002072	HP:0007326	Progressive choreoathetosis	2	MRE11 CL E G H	4361	604391	Ataxia-telangiectasia-like disorder 1	604391	C1858391	OMIM	1	1911	7230	600814
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	MRE11 CL E G H	4361	604391	Ataxia-telangiectasia-like disorder 1	604391	C1858391	OMIM	1	1911	7230	600814
HP:0002072	HP:0007326	Progressive choreoathetosis	2	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	1	656	17646	610661
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	1	656	17646	610661
HP:0002072	HP:0007326	Progressive choreoathetosis	2	NKX2-1 CL E G H	7080	118700	Benign hereditary chorea	118700	C0393584	OMIM	1	317	11825	600635
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	NKX2-1 CL E G H	7080	118700	Benign hereditary chorea	118700	C0393584	OMIM	1	317	11825	600635
HP:0002072	HP:0007326	Progressive choreoathetosis	2	OPA3 CL E G H	80207	258501	3-Methylglutaconic aciduria type 3	258501	C0574084	OMIM	1	523	8142	606580
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	OPA3 CL E G H	80207	258501	3-Methylglutaconic aciduria type 3	258501	C0574084	OMIM	1	523	8142	606580
HP:0002072	HP:0007326	Progressive choreoathetosis	2	PDE10A CL E G H	10846	494526				ORPHA	1	222	8772	610652
HP:0002072	HP:0007326	Progressive choreoathetosis	2	PDE10A CL E G H	10846	494541				ORPHA	1	222	8772	610652
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	PDE10A CL E G H	10846	494526				ORPHA	1	222	8772	610652
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	PDE10A CL E G H	10846	494541				ORPHA	1	222	8772	610652
HP:0002072	HP:0007326	Progressive choreoathetosis	2	PDE10A CL E G H	10846	616921	Dyskinesia, limb and orofacial, infantile-onset	616921	C4310792	OMIM	1	222	8772	610652
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	PDE10A CL E G H	10846	616921	Dyskinesia, limb and orofacial, infantile-onset	616921	C4310792	OMIM	1	222	8772	610652
HP:0002072	HP:0007326	Progressive choreoathetosis	2	PDE10A CL E G H	10846	616922	Striatal degeneration, autosomal dominant 2	616922	C4310791	OMIM	1	222	8772	610652
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	PDE10A CL E G H	10846	616922	Striatal degeneration, autosomal dominant 2	616922	C4310791	OMIM	1	222	8772	610652
HP:0002072	HP:0007326	Progressive choreoathetosis	2	PDGFB CL E G H	5155	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	151	8800	190040
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	PDGFB CL E G H	5155	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	151	8800	190040
HP:0002072	HP:0007326	Progressive choreoathetosis	2	PDGFB CL E G H	5155	615483	Idiopathic basal ganglia calcification 5	615483	C3809645	OMIM	1	151	8800	190040
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	PDGFB CL E G H	5155	615483	Idiopathic basal ganglia calcification 5	615483	C3809645	OMIM	1	151	8800	190040
HP:0002072	HP:0007326	Progressive choreoathetosis	2	PDGFRB CL E G H	5159	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	531	8804	173410
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	PDGFRB CL E G H	5159	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	531	8804	173410
HP:0002072	HP:0007326	Progressive choreoathetosis	2	PITX3 CL E G H	5309	610623	Cataract 11	610623	C1864567	OMIM	1	54	9006	602669
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	PITX3 CL E G H	5309	610623	Cataract 11	610623	C1864567	OMIM	1	54	9006	602669
HP:0002072	HP:0007326	Progressive choreoathetosis	2	PLA2G6 CL E G H	8398	610217	Neurodegeneration with brain iron accumulation 2b	610217	C1857747	OMIM	1	775	9039	603604
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	PLA2G6 CL E G H	8398	610217	Neurodegeneration with brain iron accumulation 2b	610217	C1857747	OMIM	1	775	9039	603604
HP:0002072	HP:0007326	Progressive choreoathetosis	2	PRNP CL E G H	5621	157941				ORPHA	1	191	9449	176640
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	PRNP CL E G H	5621	157941				ORPHA	1	191	9449	176640
HP:0002072	HP:0007326	Progressive choreoathetosis	2	PRNP CL E G H	5621	603218	Huntington disease-like 1	603218	C1864112	OMIM	1	191	9449	176640
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	PRNP CL E G H	5621	603218	Huntington disease-like 1	603218	C1864112	OMIM	1	191	9449	176640
HP:0002072	HP:0007326	Progressive choreoathetosis	2	PRRT2 CL E G H	112476	98809	Paroxysmal kinesigenic dyskinesia		CN207123	ORPHA	1	799	30500	614386
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	PRRT2 CL E G H	112476	98809	Paroxysmal kinesigenic dyskinesia		CN207123	ORPHA	1	799	30500	614386
HP:0002072	HP:0007326	Progressive choreoathetosis	2	PUM1 CL E G H	9698	617931	SPINOCEREBELLAR ATAXIA 47	617931	CN244564	OMIM	1	175	14957	607204
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	PUM1 CL E G H	9698	617931	SPINOCEREBELLAR ATAXIA 47	617931	CN244564	OMIM	1	175	14957	607204
HP:0002072	HP:0007326	Progressive choreoathetosis	2	RHOBTB2 CL E G H	23221	618004	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64	618004	CN248512	OMIM	1	592	18756	607352
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	RHOBTB2 CL E G H	23221	618004	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64	618004	CN248512	OMIM	1	592	18756	607352
HP:0002072	HP:0007326	Progressive choreoathetosis	2	SEPSECS CL E G H	51091	613811	Pontocerebellar hypoplasia type 2D	613811	C3151140	OMIM	1	481	30605	613009
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	SEPSECS CL E G H	51091	613811	Pontocerebellar hypoplasia type 2D	613811	C3151140	OMIM	1	481	30605	613009
HP:0002072	HP:0007326	Progressive choreoathetosis	2	SLC20A2 CL E G H	6575	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	337	10947	158378
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	SLC20A2 CL E G H	6575	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	337	10947	158378
HP:0002072	HP:0007326	Progressive choreoathetosis	2	SLC6A3 CL E G H	6531	238455				ORPHA	1	583	11049	126455
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	SLC6A3 CL E G H	6531	238455				ORPHA	1	583	11049	126455
HP:0002072	HP:0007326	Progressive choreoathetosis	2	SLC6A3 CL E G H	6531	613135	Infantile Parkinsonism-dystonia	613135	C2751067	OMIM	1	583	11049	126455
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	SLC6A3 CL E G H	6531	613135	Infantile Parkinsonism-dystonia	613135	C2751067	OMIM	1	583	11049	126455
HP:0002072	HP:0007326	Progressive choreoathetosis	2	SLC6A8 CL E G H	6535	52503				ORPHA	1	1062	11055	300036
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	SLC6A8 CL E G H	6535	52503				ORPHA	1	1062	11055	300036
HP:0002072	HP:0007326	Progressive choreoathetosis	2	TAF1 CL E G H	6872	53351				ORPHA	1	534	11535	313650
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	TAF1 CL E G H	6872	53351				ORPHA	1	534	11535	313650
HP:0002072	HP:0007326	Progressive choreoathetosis	2	TAF1 CL E G H	6872	314250	Dystonia 3, torsion, X-linked	314250	C1839130	OMIM	1	534	11535	313650
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	TAF1 CL E G H	6872	314250	Dystonia 3, torsion, X-linked	314250	C1839130	OMIM	1	534	11535	313650
HP:0002072	HP:0007326	Progressive choreoathetosis	2	TBP CL E G H	6908	98759				ORPHA	1	131	11588	600075
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	TBP CL E G H	6908	98759				ORPHA	1	131	11588	600075
HP:0002072	HP:0007326	Progressive choreoathetosis	2	TBP CL E G H	6908	607136	Spinocerebellar ataxia 17	607136	C1846707	OMIM	1	131	11588	600075
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	TBP CL E G H	6908	607136	Spinocerebellar ataxia 17	607136	C1846707	OMIM	1	131	11588	600075
HP:0002072	HP:0007326	Progressive choreoathetosis	2	TRAPPC11 CL E G H	60684	369847				ORPHA	1	983	25751	614138
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	TRAPPC11 CL E G H	60684	369847				ORPHA	1	983	25751	614138
HP:0002072	HP:0007326	Progressive choreoathetosis	2	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	1	983	25751	614138
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	1	983	25751	614138
HP:0002072	HP:0007326	Progressive choreoathetosis	2	TREM2 CL E G H	54209	2770				ORPHA	1	154	17761	605086
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	TREM2 CL E G H	54209	2770				ORPHA	1	154	17761	605086
HP:0002072	HP:0007326	Progressive choreoathetosis	2	TSEN2 CL E G H	80746	612389	Pontocerebellar hypoplasia type 2B	612389	C2676466	OMIM	1	280	28422	608753
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	TSEN2 CL E G H	80746	612389	Pontocerebellar hypoplasia type 2B	612389	C2676466	OMIM	1	280	28422	608753
HP:0002072	HP:0007326	Progressive choreoathetosis	2	TSEN34 CL E G H	79042	612390	Pontocerebellar hypoplasia type 2C	612390	C2676465	OMIM	1	168	15506	608754
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	TSEN34 CL E G H	79042	612390	Pontocerebellar hypoplasia type 2C	612390	C2676465	OMIM	1	168	15506	608754
HP:0002072	HP:0007326	Progressive choreoathetosis	2	TYROBP CL E G H	7305	2770				ORPHA	1	110	12449	604142
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	TYROBP CL E G H	7305	2770				ORPHA	1	110	12449	604142
HP:0002072	HP:0007326	Progressive choreoathetosis	2	UBTF CL E G H	7343	617672	NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY	617672	C4540086	OMIM	1	84	12511	600673
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	UBTF CL E G H	7343	617672	NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY	617672	C4540086	OMIM	1	84	12511	600673
HP:0002072	HP:0007326	Progressive choreoathetosis	2	VPS13A CL E G H	23230	2388				ORPHA	1	2362	1908	605978
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	VPS13A CL E G H	23230	2388				ORPHA	1	2362	1908	605978
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002072	HP:0002072	Chorea	0	ADA2 CL E G H	51816	820				ORPHA	0	533	1839	607575
HP:0002072	HP:0002072	Chorea	0	ARSA CL E G H	410	309271				ORPHA	0	1140	713	607574
HP:0002072	HP:0002072	Chorea	0	ATN1 CL E G H	1822	125370	Dentatorubral pallidoluysian atrophy	125370	C0751781	OMIM	0	213	3033	607462
HP:0002072	HP:0002072	Chorea	0	ATP7A CL E G H	538	565				ORPHA	0	1751	869	300011
HP:0002072	HP:0002072	Chorea	0	FXN CL E G H	2395	95				ORPHA	0	158	3951	606829
HP:0002072	HP:0002072	Chorea	0	GNAO1 CL E G H	2775	615473	Early infantile epileptic encephalopathy 17	615473	C3809606	OMIM	0	429	4389	139311
HP:0002072	HP:0002072	Chorea	0	HCFC1 CL E G H	3054	309541	Mental retardation 3, X-linked	309541	C0796208	OMIM	0	858	4839	300019
HP:0002072	HP:0002072	Chorea	0	JPH3 CL E G H	57338	98934				ORPHA	0	176	14203	605268
HP:0002072	HP:0002072	Chorea	0	KCNMA1 CL E G H	3778	79137				ORPHA	0	1097	6284	600150
HP:0002072	HP:0002072	Chorea	0	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0002072	HP:0002072	Chorea	0	PANK2 CL E G H	80025	216873				ORPHA	0	499	15894	606157
HP:0002072	HP:0002072	Chorea	0	PRNP CL E G H	5621	282166				ORPHA	0	191	9449	176640
HP:0002072	HP:0002072	Chorea	0	PSAP CL E G H	5660	309271				ORPHA	0	772	9498	176801
HP:0002072	HP:0002072	Chorea	0	SETX CL E G H	23064	606002	Spinocerebellar ataxia autosomal recessive 1	606002	C1853761	OMIM	0	1556	445	608465
HP:0002072	HP:0002072	Chorea	0	TRAPPC11 CL E G H	60684	369840				ORPHA	0	983	25751	614138
HP:0002072	HP:0001266	Choreoathetosis	1	ADA2 CL E G H	51816	820				ORPHA	0	533	1839	607575
HP:0002072	HP:0001266	Choreoathetosis	1	ARSA CL E G H	410	309271				ORPHA	0	1140	713	607574
HP:0002072	HP:0001266	Choreoathetosis	1	ATN1 CL E G H	1822	125370	Dentatorubral pallidoluysian atrophy	125370	C0751781	OMIM	0	213	3033	607462
HP:0002072	HP:0001266	Choreoathetosis	1	ATP7A CL E G H	538	565				ORPHA	0	1751	869	300011
HP:0002072	HP:0001266	Choreoathetosis	1	FXN CL E G H	2395	95				ORPHA	0	158	3951	606829
HP:0002072	HP:0001266	Choreoathetosis	1	GNAO1 CL E G H	2775	615473	Early infantile epileptic encephalopathy 17	615473	C3809606	OMIM	0	429	4389	139311
HP:0002072	HP:0001266	Choreoathetosis	1	HCFC1 CL E G H	3054	309541	Mental retardation 3, X-linked	309541	C0796208	OMIM	0	858	4839	300019
HP:0002072	HP:0001266	Choreoathetosis	1	JPH3 CL E G H	57338	98934				ORPHA	0	176	14203	605268
HP:0002072	HP:0001266	Choreoathetosis	1	KCNMA1 CL E G H	3778	79137				ORPHA	0	1097	6284	600150
HP:0002072	HP:0001266	Choreoathetosis	1	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0002072	HP:0001266	Choreoathetosis	1	PANK2 CL E G H	80025	216873				ORPHA	0	499	15894	606157
HP:0002072	HP:0001266	Choreoathetosis	1	PRNP CL E G H	5621	282166				ORPHA	0	191	9449	176640
HP:0002072	HP:0001266	Choreoathetosis	1	PSAP CL E G H	5660	309271				ORPHA	0	772	9498	176801
HP:0002072	HP:0001266	Choreoathetosis	1	SETX CL E G H	23064	606002	Spinocerebellar ataxia autosomal recessive 1	606002	C1853761	OMIM	0	1556	445	608465
HP:0002072	HP:0001266	Choreoathetosis	1	TRAPPC11 CL E G H	60684	369840				ORPHA	0	983	25751	614138
HP:0002072	HP:0007326	Progressive choreoathetosis	2	ADA2 CL E G H	51816	820				ORPHA	0	533	1839	607575
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	ADA2 CL E G H	51816	820				ORPHA	0	533	1839	607575
HP:0002072	HP:0007326	Progressive choreoathetosis	2	ARSA CL E G H	410	309271				ORPHA	0	1140	713	607574
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	ARSA CL E G H	410	309271				ORPHA	0	1140	713	607574
HP:0002072	HP:0007326	Progressive choreoathetosis	2	ATN1 CL E G H	1822	125370	Dentatorubral pallidoluysian atrophy	125370	C0751781	OMIM	0	213	3033	607462
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	ATN1 CL E G H	1822	125370	Dentatorubral pallidoluysian atrophy	125370	C0751781	OMIM	0	213	3033	607462
HP:0002072	HP:0007326	Progressive choreoathetosis	2	ATP7A CL E G H	538	565				ORPHA	0	1751	869	300011
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	ATP7A CL E G H	538	565				ORPHA	0	1751	869	300011
HP:0002072	HP:0007326	Progressive choreoathetosis	2	FXN CL E G H	2395	95				ORPHA	0	158	3951	606829
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	FXN CL E G H	2395	95				ORPHA	0	158	3951	606829
HP:0002072	HP:0007326	Progressive choreoathetosis	2	GNAO1 CL E G H	2775	615473	Early infantile epileptic encephalopathy 17	615473	C3809606	OMIM	0	429	4389	139311
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	GNAO1 CL E G H	2775	615473	Early infantile epileptic encephalopathy 17	615473	C3809606	OMIM	0	429	4389	139311
HP:0002072	HP:0007326	Progressive choreoathetosis	2	HCFC1 CL E G H	3054	309541	Mental retardation 3, X-linked	309541	C0796208	OMIM	0	858	4839	300019
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	HCFC1 CL E G H	3054	309541	Mental retardation 3, X-linked	309541	C0796208	OMIM	0	858	4839	300019
HP:0002072	HP:0007326	Progressive choreoathetosis	2	JPH3 CL E G H	57338	98934				ORPHA	0	176	14203	605268
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	JPH3 CL E G H	57338	98934				ORPHA	0	176	14203	605268
HP:0002072	HP:0007326	Progressive choreoathetosis	2	KCNMA1 CL E G H	3778	79137				ORPHA	0	1097	6284	600150
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	KCNMA1 CL E G H	3778	79137				ORPHA	0	1097	6284	600150
HP:0002072	HP:0007326	Progressive choreoathetosis	2	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0002072	HP:0007326	Progressive choreoathetosis	2	PANK2 CL E G H	80025	216873				ORPHA	0	499	15894	606157
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	PANK2 CL E G H	80025	216873				ORPHA	0	499	15894	606157
HP:0002072	HP:0007326	Progressive choreoathetosis	2	PRNP CL E G H	5621	282166				ORPHA	0	191	9449	176640
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	PRNP CL E G H	5621	282166				ORPHA	0	191	9449	176640
HP:0002072	HP:0007326	Progressive choreoathetosis	2	PSAP CL E G H	5660	309271				ORPHA	0	772	9498	176801
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	PSAP CL E G H	5660	309271				ORPHA	0	772	9498	176801
HP:0002072	HP:0007326	Progressive choreoathetosis	2	SETX CL E G H	23064	606002	Spinocerebellar ataxia autosomal recessive 1	606002	C1853761	OMIM	0	1556	445	608465
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	SETX CL E G H	23064	606002	Spinocerebellar ataxia autosomal recessive 1	606002	C1853761	OMIM	0	1556	445	608465
HP:0002072	HP:0007326	Progressive choreoathetosis	2	TRAPPC11 CL E G H	60684	369840				ORPHA	0	983	25751	614138
HP:0002072	HP:0007098	Paroxysmal choreoathetosis	2	TRAPPC11 CL E G H	60684	369840				ORPHA	0	983	25751	614138