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:0002169	HP:0002169	Clonus	0	ABCB7 CL E G H	22	301310	Anemia sideroblastic and spinocerebellar ataxia	301310	C1845028	OMIM	1	251	48	300135
HP:0002169	HP:0002169	Clonus	0	ABCB7 CL E G H	22	301310	Anemia sideroblastic and spinocerebellar ataxia	301310	C1845028	OMIM	1	246	48	300135
HP:0002169	HP:0002169	Clonus	0	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	230	469	102771
HP:0002169	HP:0002169	Clonus	0	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	172	469	102771
HP:0002169	HP:0002169	Clonus	0	BRAT1 CL E G H	221927	614498	Rigidity and multifocal seizure syndrome, lethal neonatal	614498	C3281029	OMIM	1	847	21701	614506
HP:0002169	HP:0002169	Clonus	0	BRAT1 CL E G H	221927	614498	Rigidity and multifocal seizure syndrome, lethal neonatal	614498	C3281029	OMIM	1	725	21701	614506
HP:0002169	HP:0002169	Clonus	0	C12orf65 CL E G H	91574	615035	Spastic paraplegia 55, autosomal recessive	615035	C3539506	OMIM	1		26784	613541
HP:0002169	HP:0002169	Clonus	0	CAV1 CL E G H	857	606721	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	606721	C1847582	OMIM	1	85	1527	601047
HP:0002169	HP:0002169	Clonus	0	CAV1 CL E G H	857	606721	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	606721	C1847582	OMIM	1	81	1527	601047
HP:0002169	HP:0002169	Clonus	0	CCT5 CL E G H	22948	139578				ORPHA	1	306	1618	610150
HP:0002169	HP:0002169	Clonus	0	CCT5 CL E G H	22948	139578				ORPHA	1	293	1618	610150
HP:0002169	HP:0002169	Clonus	0	CCT5 CL E G H	22948	256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	256840	C1850395	OMIM	1	306	1618	610150
HP:0002169	HP:0002169	Clonus	0	CCT5 CL E G H	22948	256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	256840	C1850395	OMIM	1	293	1618	610150
HP:0002169	HP:0002169	Clonus	0	ERLIN1 CL E G H	10613	615681	Spastic paraplegia 62, autosomal recessive	615681	C4284588	OMIM	1	84	16947	611604
HP:0002169	HP:0002169	Clonus	0	ERLIN1 CL E G H	10613	615681	Spastic paraplegia 62, autosomal recessive	615681	C4284588	OMIM	1	59	16947	611604
HP:0002169	HP:0002169	Clonus	0	HIKESHI CL E G H	51501	616881	Leukodystrophy, hypomyelinating, 13	616881	C4225170	OMIM	1	43	26938	614908
HP:0002169	HP:0002169	Clonus	0	HIKESHI CL E G H	51501	616881	Leukodystrophy, hypomyelinating, 13	616881	C4225170	OMIM	1	35	26938	614908
HP:0002169	HP:0002169	Clonus	0	KCNT1 CL E G H	57582	614959	Early infantile epileptic encephalopathy 14	614959	C3554195	OMIM	1	1476	18865	608167
HP:0002169	HP:0002169	Clonus	0	KCNT1 CL E G H	57582	614959	Early infantile epileptic encephalopathy 14	614959	C3554195	OMIM	1	1303	18865	608167
HP:0002169	HP:0002169	Clonus	0	KIF1C CL E G H	10749	397946				ORPHA	1	335	6317	603060
HP:0002169	HP:0002169	Clonus	0	KIF1C CL E G H	10749	397946				ORPHA	1	286	6317	603060
HP:0002169	HP:0002169	Clonus	0	MED17 CL E G H	9440	613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	613668	C3150921	OMIM	1	282	2375	603810
HP:0002169	HP:0002169	Clonus	0	MED17 CL E G H	9440	613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	613668	C3150921	OMIM	1	248	2375	603810
HP:0002169	HP:0002169	Clonus	0	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0002169	HP:0002169	Clonus	0	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0002169	HP:0002169	Clonus	0	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0002169	HP:0002169	Clonus	0	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0002169	HP:0002169	Clonus	0	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0002169	HP:0002169	Clonus	0	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0002169	HP:0002169	Clonus	0	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0002169	HP:0002169	Clonus	0	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0002169	HP:0002169	Clonus	0	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0002169	HP:0002169	Clonus	0	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0002169	HP:0002169	Clonus	0	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0002169	HP:0002169	Clonus	0	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0002169	HP:0002169	Clonus	0	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0002169	HP:0002169	Clonus	0	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0002169	HP:0002169	Clonus	0	NIPA1 CL E G H	123606	600363	Spastic paraplegia 6	600363	C1838192	OMIM	1	557	17043	608145
HP:0002169	HP:0002169	Clonus	0	NIPA1 CL E G H	123606	600363	Spastic paraplegia 6	600363	C1838192	OMIM	1	526	17043	608145
HP:0002169	HP:0002169	Clonus	0	OCRL CL E G H	4952	534	Acute myeloblastic leukemia without maturation			ORPHA	1	475	8108	300535
HP:0002169	HP:0002169	Clonus	0	OCRL CL E G H	4952	534	Acute myeloblastic leukemia without maturation			ORPHA	1	425	8108	300535
HP:0002169	HP:0002169	Clonus	0	OSTM1 CL E G H	28962	259720	Osteopetrosis, autosomal recessive 5	259720	C1968603	OMIM	1	191	21652	607649
HP:0002169	HP:0002169	Clonus	0	OSTM1 CL E G H	28962	259720	Osteopetrosis, autosomal recessive 5	259720	C1968603	OMIM	1	146	21652	607649
HP:0002169	HP:0002169	Clonus	0	PC CL E G H	5091	266150	Pyruvate carboxylase deficiency	266150	C0034341	OMIM	1	643	8636	608786
HP:0002169	HP:0002169	Clonus	0	PC CL E G H	5091	266150	Pyruvate carboxylase deficiency	266150	C0034341	OMIM	1	574	8636	608786
HP:0002169	HP:0002169	Clonus	0	PLPBP CL E G H	11212	617290	Epilepsy, early-onset, vitamin b6-dependent	617290	C4310632	OMIM	1	82	9457	604436
HP:0002169	HP:0002169	Clonus	0	PLPBP CL E G H	11212	617290	Epilepsy, early-onset, vitamin b6-dependent	617290	C4310632	OMIM	1	80	9457	604436
HP:0002169	HP:0002169	Clonus	0	PRUNE1 CL E G H	58497	617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	617481	C4479566	OMIM	1	35	13420	617413
HP:0002169	HP:0002169	Clonus	0	PRUNE1 CL E G H	58497	617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	617481	C4479566	OMIM	1	34	13420	617413
HP:0002169	HP:0002169	Clonus	0	RTN2 CL E G H	6253	100993				ORPHA	1	172	10468	603183
HP:0002169	HP:0002169	Clonus	0	RTN2 CL E G H	6253	100993				ORPHA	1	152	10468	603183
HP:0002169	HP:0002169	Clonus	0	SEPSECS CL E G H	51091	613811	Pontocerebellar hypoplasia type 2D	613811	C3151140	OMIM	1	329	30605	613009
HP:0002169	HP:0002169	Clonus	0	SEPSECS CL E G H	51091	613811	Pontocerebellar hypoplasia type 2D	613811	C3151140	OMIM	1	292	30605	613009
HP:0002169	HP:0002169	Clonus	0	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	318	10923	300095
HP:0002169	HP:0002169	Clonus	0	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	290	10923	300095
HP:0002169	HP:0002169	Clonus	0	SLC25A15 CL E G H	10166	238970	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	238970	C0268540	OMIM	1	304	10985	603861
HP:0002169	HP:0002169	Clonus	0	SLC25A15 CL E G H	10166	238970	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	238970	C0268540	OMIM	1	282	10985	603861
HP:0002169	HP:0002169	Clonus	0	SLC33A1 CL E G H	9197	171863				ORPHA	1	126	95	603690
HP:0002169	HP:0002169	Clonus	0	SLC33A1 CL E G H	9197	171863				ORPHA	1	101	95	603690
HP:0002169	HP:0002169	Clonus	0	SLC6A9 CL E G H	6536	617301	Glycine encephalopathy with normal serum glycine	617301	C4310943	OMIM	1	126	11056	601019
HP:0002169	HP:0002169	Clonus	0	SLC6A9 CL E G H	6536	617301	Glycine encephalopathy with normal serum glycine	617301	C4310943	OMIM	1	91	11056	601019
HP:0002169	HP:0002169	Clonus	0	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	550	25439	616830
HP:0002169	HP:0002169	Clonus	0	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	480	25439	616830
HP:0002169	HP:0002169	Clonus	0	TRAK1 CL E G H	22906	618201	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68	618201		OMIM	1	71	29947	608112
HP:0002169	HP:0002169	Clonus	0	TRAK1 CL E G H	22906	618201	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68	618201		OMIM	1	40	29947	608112
HP:0002169	HP:0002169	Clonus	0	TSEN2 CL E G H	80746	612389	Pontocerebellar hypoplasia type 2B	612389	C2676466	OMIM	1	228	28422	608753
HP:0002169	HP:0002169	Clonus	0	TSEN2 CL E G H	80746	612389	Pontocerebellar hypoplasia type 2B	612389	C2676466	OMIM	1	208	28422	608753
HP:0002169	HP:0002169	Clonus	0	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	22	26941	610554
HP:0002169	HP:0002169	Clonus	0	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	20	26941	610554
HP:0002169	HP:0002169	Clonus	0	USP8 CL E G H	9101	401795				ORPHA	1	115	12631	603158
HP:0002169	HP:0002169	Clonus	0	USP8 CL E G H	9101	401795				ORPHA	1	98	12631	603158
HP:0002169	HP:0002169	Clonus	0	VPS37A CL E G H	137492	319199				ORPHA	1	188	24928	609927
HP:0002169	HP:0002169	Clonus	0	VPS37A CL E G H	137492	319199				ORPHA	1	173	24928	609927
HP:0002169	HP:0002169	Clonus	0	VPS37A CL E G H	137492	614898	Spastic paraplegia 53, autosomal recessive	614898	C3539494	OMIM	1	188	24928	609927
HP:0002169	HP:0002169	Clonus	0	VPS37A CL E G H	137492	614898	Spastic paraplegia 53, autosomal recessive	614898	C3539494	OMIM	1	173	24928	609927
HP:0002169	HP:0002169	Clonus	0	ZFYVE26 CL E G H	23503	270700	Spastic paraplegia 15	270700	C1849128	OMIM	1	1457	20761	612012
HP:0002169	HP:0002169	Clonus	0	ZFYVE26 CL E G H	23503	270700	Spastic paraplegia 15	270700	C1849128	OMIM	1	1264	20761	612012
HP:0002169	HP:0011448	Ankle clonus	1	ABCB7 CL E G H	22	301310	Anemia sideroblastic and spinocerebellar ataxia	301310	C1845028	OMIM	1	251	48	300135
HP:0002169	HP:0011449	Knee clonus	1	ABCB7 CL E G H	22	301310	Anemia sideroblastic and spinocerebellar ataxia	301310	C1845028	OMIM	1	251	48	300135
HP:0002169	HP:0011448	Ankle clonus	1	ABCB7 CL E G H	22	301310	Anemia sideroblastic and spinocerebellar ataxia	301310	C1845028	OMIM	1	246	48	300135
HP:0002169	HP:0011449	Knee clonus	1	ABCB7 CL E G H	22	301310	Anemia sideroblastic and spinocerebellar ataxia	301310	C1845028	OMIM	1	246	48	300135
HP:0002169	HP:0011728	Elbow clonus	1	ABCB7 CL E G H	22	301310	Anemia sideroblastic and spinocerebellar ataxia	301310	C1845028	OMIM	1	251	48	300135
HP:0002169	HP:0011728	Elbow clonus	1	ABCB7 CL E G H	22	301310	Anemia sideroblastic and spinocerebellar ataxia	301310	C1845028	OMIM	1	246	48	300135
HP:0002169	HP:0011448	Ankle clonus	1	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	230	469	102771
HP:0002169	HP:0011449	Knee clonus	1	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	230	469	102771
HP:0002169	HP:0011448	Ankle clonus	1	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	172	469	102771
HP:0002169	HP:0011449	Knee clonus	1	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	172	469	102771
HP:0002169	HP:0011728	Elbow clonus	1	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	230	469	102771
HP:0002169	HP:0011728	Elbow clonus	1	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	172	469	102771
HP:0002169	HP:0011448	Ankle clonus	1	BRAT1 CL E G H	221927	614498	Rigidity and multifocal seizure syndrome, lethal neonatal	614498	C3281029	OMIM	1	847	21701	614506
HP:0002169	HP:0011449	Knee clonus	1	BRAT1 CL E G H	221927	614498	Rigidity and multifocal seizure syndrome, lethal neonatal	614498	C3281029	OMIM	1	847	21701	614506
HP:0002169	HP:0011448	Ankle clonus	1	BRAT1 CL E G H	221927	614498	Rigidity and multifocal seizure syndrome, lethal neonatal	614498	C3281029	OMIM	1	725	21701	614506
HP:0002169	HP:0011449	Knee clonus	1	BRAT1 CL E G H	221927	614498	Rigidity and multifocal seizure syndrome, lethal neonatal	614498	C3281029	OMIM	1	725	21701	614506
HP:0002169	HP:0011728	Elbow clonus	1	BRAT1 CL E G H	221927	614498	Rigidity and multifocal seizure syndrome, lethal neonatal	614498	C3281029	OMIM	1	847	21701	614506
HP:0002169	HP:0011728	Elbow clonus	1	BRAT1 CL E G H	221927	614498	Rigidity and multifocal seizure syndrome, lethal neonatal	614498	C3281029	OMIM	1	725	21701	614506
HP:0002169	HP:0011728	Elbow clonus	1	C12orf65 CL E G H	91574	615035	Spastic paraplegia 55, autosomal recessive	615035	C3539506	OMIM	1		26784	613541
HP:0002169	HP:0011448	Ankle clonus	1	C12orf65 CL E G H	91574	615035	Spastic paraplegia 55, autosomal recessive	615035	C3539506	OMIM	1		26784	613541
HP:0002169	HP:0011449	Knee clonus	1	C12orf65 CL E G H	91574	615035	Spastic paraplegia 55, autosomal recessive	615035	C3539506	OMIM	1		26784	613541
HP:0002169	HP:0011449	Knee clonus	1	CAV1 CL E G H	857	606721	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	606721	C1847582	OMIM	1	85	1527	601047
HP:0002169	HP:0011448	Ankle clonus	1	CAV1 CL E G H	857	606721	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	606721	C1847582	OMIM	1	85	1527	601047
HP:0002169	HP:0011449	Knee clonus	1	CAV1 CL E G H	857	606721	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	606721	C1847582	OMIM	1	81	1527	601047
HP:0002169	HP:0011448	Ankle clonus	1	CAV1 CL E G H	857	606721	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	606721	C1847582	OMIM	1	81	1527	601047
HP:0002169	HP:0011728	Elbow clonus	1	CAV1 CL E G H	857	606721	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	606721	C1847582	OMIM	1	85	1527	601047
HP:0002169	HP:0011728	Elbow clonus	1	CAV1 CL E G H	857	606721	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	606721	C1847582	OMIM	1	81	1527	601047
HP:0002169	HP:0011448	Ankle clonus	1	CCT5 CL E G H	22948	139578				ORPHA	1	306	1618	610150
HP:0002169	HP:0011449	Knee clonus	1	CCT5 CL E G H	22948	139578				ORPHA	1	306	1618	610150
HP:0002169	HP:0011448	Ankle clonus	1	CCT5 CL E G H	22948	139578				ORPHA	1	293	1618	610150
HP:0002169	HP:0011449	Knee clonus	1	CCT5 CL E G H	22948	139578				ORPHA	1	293	1618	610150
HP:0002169	HP:0011728	Elbow clonus	1	CCT5 CL E G H	22948	139578				ORPHA	1	306	1618	610150
HP:0002169	HP:0011728	Elbow clonus	1	CCT5 CL E G H	22948	139578				ORPHA	1	293	1618	610150
HP:0002169	HP:0011448	Ankle clonus	1	CCT5 CL E G H	22948	256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	256840	C1850395	OMIM	1	306	1618	610150
HP:0002169	HP:0011449	Knee clonus	1	CCT5 CL E G H	22948	256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	256840	C1850395	OMIM	1	306	1618	610150
HP:0002169	HP:0011448	Ankle clonus	1	CCT5 CL E G H	22948	256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	256840	C1850395	OMIM	1	293	1618	610150
HP:0002169	HP:0011449	Knee clonus	1	CCT5 CL E G H	22948	256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	256840	C1850395	OMIM	1	293	1618	610150
HP:0002169	HP:0011728	Elbow clonus	1	CCT5 CL E G H	22948	256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	256840	C1850395	OMIM	1	306	1618	610150
HP:0002169	HP:0011728	Elbow clonus	1	CCT5 CL E G H	22948	256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	256840	C1850395	OMIM	1	293	1618	610150
HP:0002169	HP:0011448	Ankle clonus	1	ERLIN1 CL E G H	10613	615681	Spastic paraplegia 62, autosomal recessive	615681	C4284588	OMIM	1	84	16947	611604
HP:0002169	HP:0011449	Knee clonus	1	ERLIN1 CL E G H	10613	615681	Spastic paraplegia 62, autosomal recessive	615681	C4284588	OMIM	1	84	16947	611604
HP:0002169	HP:0011448	Ankle clonus	1	ERLIN1 CL E G H	10613	615681	Spastic paraplegia 62, autosomal recessive	615681	C4284588	OMIM	1	59	16947	611604
HP:0002169	HP:0011449	Knee clonus	1	ERLIN1 CL E G H	10613	615681	Spastic paraplegia 62, autosomal recessive	615681	C4284588	OMIM	1	59	16947	611604
HP:0002169	HP:0011728	Elbow clonus	1	ERLIN1 CL E G H	10613	615681	Spastic paraplegia 62, autosomal recessive	615681	C4284588	OMIM	1	84	16947	611604
HP:0002169	HP:0011728	Elbow clonus	1	ERLIN1 CL E G H	10613	615681	Spastic paraplegia 62, autosomal recessive	615681	C4284588	OMIM	1	59	16947	611604
HP:0002169	HP:0011448	Ankle clonus	1	HIKESHI CL E G H	51501	616881	Leukodystrophy, hypomyelinating, 13	616881	C4225170	OMIM	1	43	26938	614908
HP:0002169	HP:0011449	Knee clonus	1	HIKESHI CL E G H	51501	616881	Leukodystrophy, hypomyelinating, 13	616881	C4225170	OMIM	1	43	26938	614908
HP:0002169	HP:0011448	Ankle clonus	1	HIKESHI CL E G H	51501	616881	Leukodystrophy, hypomyelinating, 13	616881	C4225170	OMIM	1	35	26938	614908
HP:0002169	HP:0011449	Knee clonus	1	HIKESHI CL E G H	51501	616881	Leukodystrophy, hypomyelinating, 13	616881	C4225170	OMIM	1	35	26938	614908
HP:0002169	HP:0011728	Elbow clonus	1	HIKESHI CL E G H	51501	616881	Leukodystrophy, hypomyelinating, 13	616881	C4225170	OMIM	1	43	26938	614908
HP:0002169	HP:0011728	Elbow clonus	1	HIKESHI CL E G H	51501	616881	Leukodystrophy, hypomyelinating, 13	616881	C4225170	OMIM	1	35	26938	614908
HP:0002169	HP:0011448	Ankle clonus	1	KCNT1 CL E G H	57582	614959	Early infantile epileptic encephalopathy 14	614959	C3554195	OMIM	1	1476	18865	608167
HP:0002169	HP:0011449	Knee clonus	1	KCNT1 CL E G H	57582	614959	Early infantile epileptic encephalopathy 14	614959	C3554195	OMIM	1	1476	18865	608167
HP:0002169	HP:0011448	Ankle clonus	1	KCNT1 CL E G H	57582	614959	Early infantile epileptic encephalopathy 14	614959	C3554195	OMIM	1	1303	18865	608167
HP:0002169	HP:0011449	Knee clonus	1	KCNT1 CL E G H	57582	614959	Early infantile epileptic encephalopathy 14	614959	C3554195	OMIM	1	1303	18865	608167
HP:0002169	HP:0011728	Elbow clonus	1	KCNT1 CL E G H	57582	614959	Early infantile epileptic encephalopathy 14	614959	C3554195	OMIM	1	1476	18865	608167
HP:0002169	HP:0011728	Elbow clonus	1	KCNT1 CL E G H	57582	614959	Early infantile epileptic encephalopathy 14	614959	C3554195	OMIM	1	1303	18865	608167
HP:0002169	HP:0011449	Knee clonus	1	KIF1C CL E G H	10749	397946				ORPHA	1	335	6317	603060
HP:0002169	HP:0011448	Ankle clonus	1	KIF1C CL E G H	10749	397946				ORPHA	1	335	6317	603060
HP:0002169	HP:0011449	Knee clonus	1	KIF1C CL E G H	10749	397946				ORPHA	1	286	6317	603060
HP:0002169	HP:0011448	Ankle clonus	1	KIF1C CL E G H	10749	397946				ORPHA	1	286	6317	603060
HP:0002169	HP:0011728	Elbow clonus	1	KIF1C CL E G H	10749	397946				ORPHA	1	335	6317	603060
HP:0002169	HP:0011728	Elbow clonus	1	KIF1C CL E G H	10749	397946				ORPHA	1	286	6317	603060
HP:0002169	HP:0011448	Ankle clonus	1	MED17 CL E G H	9440	613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	613668	C3150921	OMIM	1	282	2375	603810
HP:0002169	HP:0011449	Knee clonus	1	MED17 CL E G H	9440	613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	613668	C3150921	OMIM	1	282	2375	603810
HP:0002169	HP:0011448	Ankle clonus	1	MED17 CL E G H	9440	613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	613668	C3150921	OMIM	1	248	2375	603810
HP:0002169	HP:0011449	Knee clonus	1	MED17 CL E G H	9440	613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	613668	C3150921	OMIM	1	248	2375	603810
HP:0002169	HP:0011728	Elbow clonus	1	MED17 CL E G H	9440	613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	613668	C3150921	OMIM	1	282	2375	603810
HP:0002169	HP:0011728	Elbow clonus	1	MED17 CL E G H	9440	613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	613668	C3150921	OMIM	1	248	2375	603810
HP:0002169	HP:0011728	Elbow clonus	1	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0002169	HP:0011448	Ankle clonus	1	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0002169	HP:0011449	Knee clonus	1	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0002169	HP:0011728	Elbow clonus	1	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0002169	HP:0011448	Ankle clonus	1	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0002169	HP:0011449	Knee clonus	1	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0002169	HP:0011728	Elbow clonus	1	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0002169	HP:0011448	Ankle clonus	1	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0002169	HP:0011449	Knee clonus	1	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0002169	HP:0011728	Elbow clonus	1	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0002169	HP:0011448	Ankle clonus	1	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0002169	HP:0011449	Knee clonus	1	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0002169	HP:0011728	Elbow clonus	1	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0002169	HP:0011448	Ankle clonus	1	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0002169	HP:0011449	Knee clonus	1	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0002169	HP:0011728	Elbow clonus	1	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0002169	HP:0011448	Ankle clonus	1	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0002169	HP:0011449	Knee clonus	1	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0002169	HP:0011728	Elbow clonus	1	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0002169	HP:0011448	Ankle clonus	1	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0002169	HP:0011449	Knee clonus	1	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0002169	HP:0011728	Elbow clonus	1	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0002169	HP:0011448	Ankle clonus	1	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0002169	HP:0011449	Knee clonus	1	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0002169	HP:0011728	Elbow clonus	1	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0002169	HP:0011448	Ankle clonus	1	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0002169	HP:0011449	Knee clonus	1	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0002169	HP:0011728	Elbow clonus	1	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0002169	HP:0011448	Ankle clonus	1	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0002169	HP:0011449	Knee clonus	1	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0002169	HP:0011728	Elbow clonus	1	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0002169	HP:0011448	Ankle clonus	1	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0002169	HP:0011449	Knee clonus	1	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0002169	HP:0011728	Elbow clonus	1	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0002169	HP:0011448	Ankle clonus	1	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0002169	HP:0011449	Knee clonus	1	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0002169	HP:0011728	Elbow clonus	1	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0002169	HP:0011448	Ankle clonus	1	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0002169	HP:0011449	Knee clonus	1	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0002169	HP:0011728	Elbow clonus	1	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0002169	HP:0011448	Ankle clonus	1	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0002169	HP:0011449	Knee clonus	1	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0002169	HP:0011448	Ankle clonus	1	NIPA1 CL E G H	123606	600363	Spastic paraplegia 6	600363	C1838192	OMIM	1	557	17043	608145
HP:0002169	HP:0011449	Knee clonus	1	NIPA1 CL E G H	123606	600363	Spastic paraplegia 6	600363	C1838192	OMIM	1	557	17043	608145
HP:0002169	HP:0011449	Knee clonus	1	NIPA1 CL E G H	123606	600363	Spastic paraplegia 6	600363	C1838192	OMIM	1	526	17043	608145
HP:0002169	HP:0011448	Ankle clonus	1	NIPA1 CL E G H	123606	600363	Spastic paraplegia 6	600363	C1838192	OMIM	1	526	17043	608145
HP:0002169	HP:0011728	Elbow clonus	1	NIPA1 CL E G H	123606	600363	Spastic paraplegia 6	600363	C1838192	OMIM	1	557	17043	608145
HP:0002169	HP:0011728	Elbow clonus	1	NIPA1 CL E G H	123606	600363	Spastic paraplegia 6	600363	C1838192	OMIM	1	526	17043	608145
HP:0002169	HP:0011449	Knee clonus	1	OCRL CL E G H	4952	534	Acute myeloblastic leukemia without maturation			ORPHA	1	475	8108	300535
HP:0002169	HP:0011448	Ankle clonus	1	OCRL CL E G H	4952	534	Acute myeloblastic leukemia without maturation			ORPHA	1	475	8108	300535
HP:0002169	HP:0011449	Knee clonus	1	OCRL CL E G H	4952	534	Acute myeloblastic leukemia without maturation			ORPHA	1	425	8108	300535
HP:0002169	HP:0011448	Ankle clonus	1	OCRL CL E G H	4952	534	Acute myeloblastic leukemia without maturation			ORPHA	1	425	8108	300535
HP:0002169	HP:0011728	Elbow clonus	1	OCRL CL E G H	4952	534	Acute myeloblastic leukemia without maturation			ORPHA	1	475	8108	300535
HP:0002169	HP:0011728	Elbow clonus	1	OCRL CL E G H	4952	534	Acute myeloblastic leukemia without maturation			ORPHA	1	425	8108	300535
HP:0002169	HP:0011449	Knee clonus	1	OSTM1 CL E G H	28962	259720	Osteopetrosis, autosomal recessive 5	259720	C1968603	OMIM	1	191	21652	607649
HP:0002169	HP:0011448	Ankle clonus	1	OSTM1 CL E G H	28962	259720	Osteopetrosis, autosomal recessive 5	259720	C1968603	OMIM	1	191	21652	607649
HP:0002169	HP:0011449	Knee clonus	1	OSTM1 CL E G H	28962	259720	Osteopetrosis, autosomal recessive 5	259720	C1968603	OMIM	1	146	21652	607649
HP:0002169	HP:0011448	Ankle clonus	1	OSTM1 CL E G H	28962	259720	Osteopetrosis, autosomal recessive 5	259720	C1968603	OMIM	1	146	21652	607649
HP:0002169	HP:0011728	Elbow clonus	1	OSTM1 CL E G H	28962	259720	Osteopetrosis, autosomal recessive 5	259720	C1968603	OMIM	1	191	21652	607649
HP:0002169	HP:0011728	Elbow clonus	1	OSTM1 CL E G H	28962	259720	Osteopetrosis, autosomal recessive 5	259720	C1968603	OMIM	1	146	21652	607649
HP:0002169	HP:0011448	Ankle clonus	1	PC CL E G H	5091	266150	Pyruvate carboxylase deficiency	266150	C0034341	OMIM	1	643	8636	608786
HP:0002169	HP:0011449	Knee clonus	1	PC CL E G H	5091	266150	Pyruvate carboxylase deficiency	266150	C0034341	OMIM	1	643	8636	608786
HP:0002169	HP:0011448	Ankle clonus	1	PC CL E G H	5091	266150	Pyruvate carboxylase deficiency	266150	C0034341	OMIM	1	574	8636	608786
HP:0002169	HP:0011449	Knee clonus	1	PC CL E G H	5091	266150	Pyruvate carboxylase deficiency	266150	C0034341	OMIM	1	574	8636	608786
HP:0002169	HP:0011728	Elbow clonus	1	PC CL E G H	5091	266150	Pyruvate carboxylase deficiency	266150	C0034341	OMIM	1	643	8636	608786
HP:0002169	HP:0011728	Elbow clonus	1	PC CL E G H	5091	266150	Pyruvate carboxylase deficiency	266150	C0034341	OMIM	1	574	8636	608786
HP:0002169	HP:0011449	Knee clonus	1	PLPBP CL E G H	11212	617290	Epilepsy, early-onset, vitamin b6-dependent	617290	C4310632	OMIM	1	82	9457	604436
HP:0002169	HP:0011448	Ankle clonus	1	PLPBP CL E G H	11212	617290	Epilepsy, early-onset, vitamin b6-dependent	617290	C4310632	OMIM	1	82	9457	604436
HP:0002169	HP:0011449	Knee clonus	1	PLPBP CL E G H	11212	617290	Epilepsy, early-onset, vitamin b6-dependent	617290	C4310632	OMIM	1	80	9457	604436
HP:0002169	HP:0011448	Ankle clonus	1	PLPBP CL E G H	11212	617290	Epilepsy, early-onset, vitamin b6-dependent	617290	C4310632	OMIM	1	80	9457	604436
HP:0002169	HP:0011728	Elbow clonus	1	PLPBP CL E G H	11212	617290	Epilepsy, early-onset, vitamin b6-dependent	617290	C4310632	OMIM	1	82	9457	604436
HP:0002169	HP:0011728	Elbow clonus	1	PLPBP CL E G H	11212	617290	Epilepsy, early-onset, vitamin b6-dependent	617290	C4310632	OMIM	1	80	9457	604436
HP:0002169	HP:0011448	Ankle clonus	1	PRUNE1 CL E G H	58497	617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	617481	C4479566	OMIM	1	35	13420	617413
HP:0002169	HP:0011449	Knee clonus	1	PRUNE1 CL E G H	58497	617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	617481	C4479566	OMIM	1	35	13420	617413
HP:0002169	HP:0011448	Ankle clonus	1	PRUNE1 CL E G H	58497	617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	617481	C4479566	OMIM	1	34	13420	617413
HP:0002169	HP:0011449	Knee clonus	1	PRUNE1 CL E G H	58497	617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	617481	C4479566	OMIM	1	34	13420	617413
HP:0002169	HP:0011728	Elbow clonus	1	PRUNE1 CL E G H	58497	617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	617481	C4479566	OMIM	1	35	13420	617413
HP:0002169	HP:0011728	Elbow clonus	1	PRUNE1 CL E G H	58497	617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	617481	C4479566	OMIM	1	34	13420	617413
HP:0002169	HP:0011448	Ankle clonus	1	RTN2 CL E G H	6253	100993				ORPHA	1	172	10468	603183
HP:0002169	HP:0011449	Knee clonus	1	RTN2 CL E G H	6253	100993				ORPHA	1	172	10468	603183
HP:0002169	HP:0011448	Ankle clonus	1	RTN2 CL E G H	6253	100993				ORPHA	1	152	10468	603183
HP:0002169	HP:0011449	Knee clonus	1	RTN2 CL E G H	6253	100993				ORPHA	1	152	10468	603183
HP:0002169	HP:0011728	Elbow clonus	1	RTN2 CL E G H	6253	100993				ORPHA	1	172	10468	603183
HP:0002169	HP:0011728	Elbow clonus	1	RTN2 CL E G H	6253	100993				ORPHA	1	152	10468	603183
HP:0002169	HP:0011448	Ankle clonus	1	SEPSECS CL E G H	51091	613811	Pontocerebellar hypoplasia type 2D	613811	C3151140	OMIM	1	329	30605	613009
HP:0002169	HP:0011449	Knee clonus	1	SEPSECS CL E G H	51091	613811	Pontocerebellar hypoplasia type 2D	613811	C3151140	OMIM	1	329	30605	613009
HP:0002169	HP:0011448	Ankle clonus	1	SEPSECS CL E G H	51091	613811	Pontocerebellar hypoplasia type 2D	613811	C3151140	OMIM	1	292	30605	613009
HP:0002169	HP:0011449	Knee clonus	1	SEPSECS CL E G H	51091	613811	Pontocerebellar hypoplasia type 2D	613811	C3151140	OMIM	1	292	30605	613009
HP:0002169	HP:0011728	Elbow clonus	1	SEPSECS CL E G H	51091	613811	Pontocerebellar hypoplasia type 2D	613811	C3151140	OMIM	1	329	30605	613009
HP:0002169	HP:0011728	Elbow clonus	1	SEPSECS CL E G H	51091	613811	Pontocerebellar hypoplasia type 2D	613811	C3151140	OMIM	1	292	30605	613009
HP:0002169	HP:0011448	Ankle clonus	1	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	318	10923	300095
HP:0002169	HP:0011449	Knee clonus	1	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	318	10923	300095
HP:0002169	HP:0011448	Ankle clonus	1	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	290	10923	300095
HP:0002169	HP:0011449	Knee clonus	1	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	290	10923	300095
HP:0002169	HP:0011728	Elbow clonus	1	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	318	10923	300095
HP:0002169	HP:0011728	Elbow clonus	1	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	290	10923	300095
HP:0002169	HP:0011448	Ankle clonus	1	SLC25A15 CL E G H	10166	238970	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	238970	C0268540	OMIM	1	304	10985	603861
HP:0002169	HP:0011449	Knee clonus	1	SLC25A15 CL E G H	10166	238970	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	238970	C0268540	OMIM	1	304	10985	603861
HP:0002169	HP:0011449	Knee clonus	1	SLC25A15 CL E G H	10166	238970	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	238970	C0268540	OMIM	1	282	10985	603861
HP:0002169	HP:0011448	Ankle clonus	1	SLC25A15 CL E G H	10166	238970	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	238970	C0268540	OMIM	1	282	10985	603861
HP:0002169	HP:0011728	Elbow clonus	1	SLC25A15 CL E G H	10166	238970	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	238970	C0268540	OMIM	1	304	10985	603861
HP:0002169	HP:0011728	Elbow clonus	1	SLC25A15 CL E G H	10166	238970	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	238970	C0268540	OMIM	1	282	10985	603861
HP:0002169	HP:0011448	Ankle clonus	1	SLC33A1 CL E G H	9197	171863				ORPHA	1	126	95	603690
HP:0002169	HP:0011449	Knee clonus	1	SLC33A1 CL E G H	9197	171863				ORPHA	1	126	95	603690
HP:0002169	HP:0011449	Knee clonus	1	SLC33A1 CL E G H	9197	171863				ORPHA	1	101	95	603690
HP:0002169	HP:0011448	Ankle clonus	1	SLC33A1 CL E G H	9197	171863				ORPHA	1	101	95	603690
HP:0002169	HP:0011728	Elbow clonus	1	SLC33A1 CL E G H	9197	171863				ORPHA	1	126	95	603690
HP:0002169	HP:0011728	Elbow clonus	1	SLC33A1 CL E G H	9197	171863				ORPHA	1	101	95	603690
HP:0002169	HP:0011448	Ankle clonus	1	SLC6A9 CL E G H	6536	617301	Glycine encephalopathy with normal serum glycine	617301	C4310943	OMIM	1	126	11056	601019
HP:0002169	HP:0011449	Knee clonus	1	SLC6A9 CL E G H	6536	617301	Glycine encephalopathy with normal serum glycine	617301	C4310943	OMIM	1	126	11056	601019
HP:0002169	HP:0011448	Ankle clonus	1	SLC6A9 CL E G H	6536	617301	Glycine encephalopathy with normal serum glycine	617301	C4310943	OMIM	1	91	11056	601019
HP:0002169	HP:0011449	Knee clonus	1	SLC6A9 CL E G H	6536	617301	Glycine encephalopathy with normal serum glycine	617301	C4310943	OMIM	1	91	11056	601019
HP:0002169	HP:0011728	Elbow clonus	1	SLC6A9 CL E G H	6536	617301	Glycine encephalopathy with normal serum glycine	617301	C4310943	OMIM	1	126	11056	601019
HP:0002169	HP:0011728	Elbow clonus	1	SLC6A9 CL E G H	6536	617301	Glycine encephalopathy with normal serum glycine	617301	C4310943	OMIM	1	91	11056	601019
HP:0002169	HP:0011449	Knee clonus	1	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	550	25439	616830
HP:0002169	HP:0011448	Ankle clonus	1	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	550	25439	616830
HP:0002169	HP:0011449	Knee clonus	1	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	480	25439	616830
HP:0002169	HP:0011448	Ankle clonus	1	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	480	25439	616830
HP:0002169	HP:0011728	Elbow clonus	1	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	550	25439	616830
HP:0002169	HP:0011728	Elbow clonus	1	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	480	25439	616830
HP:0002169	HP:0011449	Knee clonus	1	TRAK1 CL E G H	22906	618201	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68	618201		OMIM	1	71	29947	608112
HP:0002169	HP:0011448	Ankle clonus	1	TRAK1 CL E G H	22906	618201	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68	618201		OMIM	1	71	29947	608112
HP:0002169	HP:0011449	Knee clonus	1	TRAK1 CL E G H	22906	618201	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68	618201		OMIM	1	40	29947	608112
HP:0002169	HP:0011448	Ankle clonus	1	TRAK1 CL E G H	22906	618201	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68	618201		OMIM	1	40	29947	608112
HP:0002169	HP:0011728	Elbow clonus	1	TRAK1 CL E G H	22906	618201	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68	618201		OMIM	1	71	29947	608112
HP:0002169	HP:0011728	Elbow clonus	1	TRAK1 CL E G H	22906	618201	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68	618201		OMIM	1	40	29947	608112
HP:0002169	HP:0011448	Ankle clonus	1	TSEN2 CL E G H	80746	612389	Pontocerebellar hypoplasia type 2B	612389	C2676466	OMIM	1	228	28422	608753
HP:0002169	HP:0011449	Knee clonus	1	TSEN2 CL E G H	80746	612389	Pontocerebellar hypoplasia type 2B	612389	C2676466	OMIM	1	228	28422	608753
HP:0002169	HP:0011448	Ankle clonus	1	TSEN2 CL E G H	80746	612389	Pontocerebellar hypoplasia type 2B	612389	C2676466	OMIM	1	208	28422	608753
HP:0002169	HP:0011449	Knee clonus	1	TSEN2 CL E G H	80746	612389	Pontocerebellar hypoplasia type 2B	612389	C2676466	OMIM	1	208	28422	608753
HP:0002169	HP:0011728	Elbow clonus	1	TSEN2 CL E G H	80746	612389	Pontocerebellar hypoplasia type 2B	612389	C2676466	OMIM	1	228	28422	608753
HP:0002169	HP:0011728	Elbow clonus	1	TSEN2 CL E G H	80746	612389	Pontocerebellar hypoplasia type 2B	612389	C2676466	OMIM	1	208	28422	608753
HP:0002169	HP:0011448	Ankle clonus	1	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	22	26941	610554
HP:0002169	HP:0011449	Knee clonus	1	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	22	26941	610554
HP:0002169	HP:0011448	Ankle clonus	1	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	20	26941	610554
HP:0002169	HP:0011449	Knee clonus	1	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	20	26941	610554
HP:0002169	HP:0011728	Elbow clonus	1	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	22	26941	610554
HP:0002169	HP:0011728	Elbow clonus	1	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	20	26941	610554
HP:0002169	HP:0011448	Ankle clonus	1	USP8 CL E G H	9101	401795				ORPHA	1	115	12631	603158
HP:0002169	HP:0011449	Knee clonus	1	USP8 CL E G H	9101	401795				ORPHA	1	115	12631	603158
HP:0002169	HP:0011448	Ankle clonus	1	USP8 CL E G H	9101	401795				ORPHA	1	98	12631	603158
HP:0002169	HP:0011449	Knee clonus	1	USP8 CL E G H	9101	401795				ORPHA	1	98	12631	603158
HP:0002169	HP:0011728	Elbow clonus	1	USP8 CL E G H	9101	401795				ORPHA	1	115	12631	603158
HP:0002169	HP:0011728	Elbow clonus	1	USP8 CL E G H	9101	401795				ORPHA	1	98	12631	603158
HP:0002169	HP:0011448	Ankle clonus	1	VPS37A CL E G H	137492	319199				ORPHA	1	188	24928	609927
HP:0002169	HP:0011449	Knee clonus	1	VPS37A CL E G H	137492	319199				ORPHA	1	188	24928	609927
HP:0002169	HP:0011448	Ankle clonus	1	VPS37A CL E G H	137492	319199				ORPHA	1	173	24928	609927
HP:0002169	HP:0011449	Knee clonus	1	VPS37A CL E G H	137492	319199				ORPHA	1	173	24928	609927
HP:0002169	HP:0011728	Elbow clonus	1	VPS37A CL E G H	137492	319199				ORPHA	1	188	24928	609927
HP:0002169	HP:0011728	Elbow clonus	1	VPS37A CL E G H	137492	319199				ORPHA	1	173	24928	609927
HP:0002169	HP:0011448	Ankle clonus	1	VPS37A CL E G H	137492	614898	Spastic paraplegia 53, autosomal recessive	614898	C3539494	OMIM	1	188	24928	609927
HP:0002169	HP:0011449	Knee clonus	1	VPS37A CL E G H	137492	614898	Spastic paraplegia 53, autosomal recessive	614898	C3539494	OMIM	1	188	24928	609927
HP:0002169	HP:0011449	Knee clonus	1	VPS37A CL E G H	137492	614898	Spastic paraplegia 53, autosomal recessive	614898	C3539494	OMIM	1	173	24928	609927
HP:0002169	HP:0011448	Ankle clonus	1	VPS37A CL E G H	137492	614898	Spastic paraplegia 53, autosomal recessive	614898	C3539494	OMIM	1	173	24928	609927
HP:0002169	HP:0011728	Elbow clonus	1	VPS37A CL E G H	137492	614898	Spastic paraplegia 53, autosomal recessive	614898	C3539494	OMIM	1	188	24928	609927
HP:0002169	HP:0011728	Elbow clonus	1	VPS37A CL E G H	137492	614898	Spastic paraplegia 53, autosomal recessive	614898	C3539494	OMIM	1	173	24928	609927
HP:0002169	HP:0011448	Ankle clonus	1	ZFYVE26 CL E G H	23503	270700	Spastic paraplegia 15	270700	C1849128	OMIM	1	1457	20761	612012
HP:0002169	HP:0011449	Knee clonus	1	ZFYVE26 CL E G H	23503	270700	Spastic paraplegia 15	270700	C1849128	OMIM	1	1457	20761	612012
HP:0002169	HP:0011448	Ankle clonus	1	ZFYVE26 CL E G H	23503	270700	Spastic paraplegia 15	270700	C1849128	OMIM	1	1264	20761	612012
HP:0002169	HP:0011449	Knee clonus	1	ZFYVE26 CL E G H	23503	270700	Spastic paraplegia 15	270700	C1849128	OMIM	1	1264	20761	612012
HP:0002169	HP:0011728	Elbow clonus	1	ZFYVE26 CL E G H	23503	270700	Spastic paraplegia 15	270700	C1849128	OMIM	1	1457	20761	612012
HP:0002169	HP:0011728	Elbow clonus	1	ZFYVE26 CL E G H	23503	270700	Spastic paraplegia 15	270700	C1849128	OMIM	1	1264	20761	612012
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002169	HP:0002169	Clonus	0	ERLIN1 CL E G H	10613	401785				ORPHA	0	84	16947	611604
HP:0002169	HP:0002169	Clonus	0	ERLIN1 CL E G H	10613	401785				ORPHA	0	59	16947	611604
HP:0002169	HP:0002169	Clonus	0	NDP CL E G H	4693	649				ORPHA	0	263	7678	300658
HP:0002169	HP:0002169	Clonus	0	NDP CL E G H	4693	649				ORPHA	0	245	7678	300658
HP:0002169	HP:0002169	Clonus	0	PTS CL E G H	5805	13	Brain malformation		C0266449	ORPHA	0	185	9689	612719
HP:0002169	HP:0002169	Clonus	0	PTS CL E G H	5805	13	Brain malformation		C0266449	ORPHA	0	164	9689	612719
HP:0002169	HP:0002169	Clonus	0	SETX CL E G H	23064	602433	Amyotrophic lateral sclerosis type 4	602433	C1865409	OMIM	0	1087	445	608465
HP:0002169	HP:0002169	Clonus	0	SETX CL E G H	23064	602433	Amyotrophic lateral sclerosis type 4	602433	C1865409	OMIM	0	941	445	608465
HP:0002169	HP:0002169	Clonus	0	TIMM50 CL E G H	92609	617698	3-METHYLGLUTACONIC ACIDURIA, TYPE IX	617698	C4540171	OMIM	0	135	23656	607381
HP:0002169	HP:0002169	Clonus	0	TIMM50 CL E G H	92609	617698	3-METHYLGLUTACONIC ACIDURIA, TYPE IX	617698	C4540171	OMIM	0	52	23656	607381
HP:0002169	HP:0002169	Clonus	0	WASHC5 CL E G H	9897	100989				ORPHA	0	493	28984	610657
HP:0002169	HP:0002169	Clonus	0	WASHC5 CL E G H	9897	100989				ORPHA	0	457	28984	610657
HP:0002169	HP:0011448	Ankle clonus	1	ERLIN1 CL E G H	10613	401785				ORPHA	0	84	16947	611604
HP:0002169	HP:0011449	Knee clonus	1	ERLIN1 CL E G H	10613	401785				ORPHA	0	84	16947	611604
HP:0002169	HP:0011448	Ankle clonus	1	ERLIN1 CL E G H	10613	401785				ORPHA	0	59	16947	611604
HP:0002169	HP:0011449	Knee clonus	1	ERLIN1 CL E G H	10613	401785				ORPHA	0	59	16947	611604
HP:0002169	HP:0011728	Elbow clonus	1	ERLIN1 CL E G H	10613	401785				ORPHA	0	84	16947	611604
HP:0002169	HP:0011728	Elbow clonus	1	ERLIN1 CL E G H	10613	401785				ORPHA	0	59	16947	611604
HP:0002169	HP:0011448	Ankle clonus	1	NDP CL E G H	4693	649				ORPHA	0	263	7678	300658
HP:0002169	HP:0011449	Knee clonus	1	NDP CL E G H	4693	649				ORPHA	0	263	7678	300658
HP:0002169	HP:0011448	Ankle clonus	1	NDP CL E G H	4693	649				ORPHA	0	245	7678	300658
HP:0002169	HP:0011449	Knee clonus	1	NDP CL E G H	4693	649				ORPHA	0	245	7678	300658
HP:0002169	HP:0011728	Elbow clonus	1	NDP CL E G H	4693	649				ORPHA	0	263	7678	300658
HP:0002169	HP:0011728	Elbow clonus	1	NDP CL E G H	4693	649				ORPHA	0	245	7678	300658
HP:0002169	HP:0011448	Ankle clonus	1	PTS CL E G H	5805	13	Brain malformation		C0266449	ORPHA	0	185	9689	612719
HP:0002169	HP:0011449	Knee clonus	1	PTS CL E G H	5805	13	Brain malformation		C0266449	ORPHA	0	185	9689	612719
HP:0002169	HP:0011448	Ankle clonus	1	PTS CL E G H	5805	13	Brain malformation		C0266449	ORPHA	0	164	9689	612719
HP:0002169	HP:0011449	Knee clonus	1	PTS CL E G H	5805	13	Brain malformation		C0266449	ORPHA	0	164	9689	612719
HP:0002169	HP:0011728	Elbow clonus	1	PTS CL E G H	5805	13	Brain malformation		C0266449	ORPHA	0	185	9689	612719
HP:0002169	HP:0011728	Elbow clonus	1	PTS CL E G H	5805	13	Brain malformation		C0266449	ORPHA	0	164	9689	612719
HP:0002169	HP:0011448	Ankle clonus	1	SETX CL E G H	23064	602433	Amyotrophic lateral sclerosis type 4	602433	C1865409	OMIM	0	1087	445	608465
HP:0002169	HP:0011449	Knee clonus	1	SETX CL E G H	23064	602433	Amyotrophic lateral sclerosis type 4	602433	C1865409	OMIM	0	1087	445	608465
HP:0002169	HP:0011448	Ankle clonus	1	SETX CL E G H	23064	602433	Amyotrophic lateral sclerosis type 4	602433	C1865409	OMIM	0	941	445	608465
HP:0002169	HP:0011449	Knee clonus	1	SETX CL E G H	23064	602433	Amyotrophic lateral sclerosis type 4	602433	C1865409	OMIM	0	941	445	608465
HP:0002169	HP:0011728	Elbow clonus	1	SETX CL E G H	23064	602433	Amyotrophic lateral sclerosis type 4	602433	C1865409	OMIM	0	1087	445	608465
HP:0002169	HP:0011728	Elbow clonus	1	SETX CL E G H	23064	602433	Amyotrophic lateral sclerosis type 4	602433	C1865409	OMIM	0	941	445	608465
HP:0002169	HP:0011448	Ankle clonus	1	TIMM50 CL E G H	92609	617698	3-METHYLGLUTACONIC ACIDURIA, TYPE IX	617698	C4540171	OMIM	0	135	23656	607381
HP:0002169	HP:0011449	Knee clonus	1	TIMM50 CL E G H	92609	617698	3-METHYLGLUTACONIC ACIDURIA, TYPE IX	617698	C4540171	OMIM	0	135	23656	607381
HP:0002169	HP:0011448	Ankle clonus	1	TIMM50 CL E G H	92609	617698	3-METHYLGLUTACONIC ACIDURIA, TYPE IX	617698	C4540171	OMIM	0	52	23656	607381
HP:0002169	HP:0011449	Knee clonus	1	TIMM50 CL E G H	92609	617698	3-METHYLGLUTACONIC ACIDURIA, TYPE IX	617698	C4540171	OMIM	0	52	23656	607381
HP:0002169	HP:0011728	Elbow clonus	1	TIMM50 CL E G H	92609	617698	3-METHYLGLUTACONIC ACIDURIA, TYPE IX	617698	C4540171	OMIM	0	135	23656	607381
HP:0002169	HP:0011728	Elbow clonus	1	TIMM50 CL E G H	92609	617698	3-METHYLGLUTACONIC ACIDURIA, TYPE IX	617698	C4540171	OMIM	0	52	23656	607381
HP:0002169	HP:0011448	Ankle clonus	1	WASHC5 CL E G H	9897	100989				ORPHA	0	493	28984	610657
HP:0002169	HP:0011449	Knee clonus	1	WASHC5 CL E G H	9897	100989				ORPHA	0	493	28984	610657
HP:0002169	HP:0011448	Ankle clonus	1	WASHC5 CL E G H	9897	100989				ORPHA	0	457	28984	610657
HP:0002169	HP:0011449	Knee clonus	1	WASHC5 CL E G H	9897	100989				ORPHA	0	457	28984	610657
HP:0002169	HP:0011728	Elbow clonus	1	WASHC5 CL E G H	9897	100989				ORPHA	0	493	28984	610657
HP:0002169	HP:0011728	Elbow clonus	1	WASHC5 CL E G H	9897	100989				ORPHA	0	457	28984	610657