Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002169	HP:0002169	Clonus	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0002169	HP:0002169	Clonus	0	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia	.	35
HP:0002169	HP:0002169	Clonus	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy		135
HP:0002169	HP:0002169	Clonus	0	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal		88
HP:0002169	HP:0002169	Clonus	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0002169	HP:0002169	Clonus	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	114
HP:0002169	HP:0002169	Clonus	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.	21
HP:0002169	HP:0002169	Clonus	0	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive		21
HP:0002169	HP:0002169	Clonus	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia		64
HP:0002169	HP:0002169	Clonus	0	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3		71
HP:0002169	HP:0002169	Clonus	0	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome		36
HP:0002169	HP:0002169	Clonus	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.	20
HP:0002169	HP:0002169	Clonus	0	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76		4
HP:0002169	HP:0002169	Clonus	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0002169	HP:0002169	Clonus	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.	11
HP:0002169	HP:0002169	Clonus	0	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	HP:0040282 - Frequent	56
HP:0002169	HP:0002169	Clonus	0	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	.	56
HP:0002169	HP:0002169	Clonus	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0002169	HP:0002169	Clonus	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0002169	HP:0002169	Clonus	0	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A		57
HP:0002169	HP:0002169	Clonus	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0002169	HP:0002169	Clonus	0	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0002169	HP:0002169	Clonus	0	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62	HP:0040283 - Occasional	2
HP:0002169	HP:0002169	Clonus	0	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive	.	2
HP:0002169	HP:0002169	Clonus	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18		18
HP:0002169	HP:0002169	Clonus	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome		18
HP:0002169	HP:0002169	Clonus	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35		76
HP:0002169	HP:0002169	Clonus	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive		76
HP:0002169	HP:0002169	Clonus	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0002169	HP:0002169	Clonus	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	157
HP:0002169	HP:0002169	Clonus	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	105
HP:0002169	HP:0002169	Clonus	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease		160
HP:0002169	HP:0002169	Clonus	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0002169	HP:0002169	Clonus	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39		43
HP:0002169	HP:0002169	Clonus	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	34
HP:0002169	HP:0002169	Clonus	0	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	.	3
HP:0002169	HP:0002169	Clonus	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0002169	HP:0002169	Clonus	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional	12
HP:0002169	HP:0002169	Clonus	0	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome		12
HP:0002169	HP:0002169	Clonus	0	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040282 - Frequent	528
HP:0002169	HP:0002169	Clonus	0	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040282 - Frequent	302
HP:0002169	HP:0002169	Clonus	0	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14	.	321
HP:0002169	HP:0002169	Clonus	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0002169	HP:0002169	Clonus	0	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive		276
HP:0002169	HP:0002169	Clonus	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040282 - Frequent	38
HP:0002169	HP:0002169	Clonus	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10		93
HP:0002169	HP:0002169	Clonus	0	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant		93
HP:0002169	HP:0002169	Clonus	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0002169	HP:0002169	Clonus	0	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040283 - Occasional
HP:0002169	HP:0002169	Clonus	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0002169	HP:0002169	Clonus	0	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	.	23
HP:0002169	HP:0002169	Clonus	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0002169	HP:0002169	Clonus	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	.
HP:0002169	HP:0002169	Clonus	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0002169	HP:0002169	Clonus	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional	39
HP:0002169	HP:0002169	Clonus	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0002169	HP:0002169	Clonus	0	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.	117
HP:0002169	HP:0002169	Clonus	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent	88
HP:0002169	HP:0002169	Clonus	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.	73
HP:0002169	HP:0002169	Clonus	0	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency	.	118
HP:0002169	HP:0002169	Clonus	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0002169	HP:0002169	Clonus	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0002169	HP:0002169	Clonus	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0002169	HP:0002169	Clonus	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.	2
HP:0002169	HP:0002169	Clonus	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0002169	HP:0002169	Clonus	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0002169	HP:0002169	Clonus	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	180
HP:0002169	HP:0002169	Clonus	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	18
HP:0002169	HP:0002169	Clonus	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	213
HP:0002169	HP:0002169	Clonus	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	221
HP:0002169	HP:0002169	Clonus	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome		40
HP:0002169	HP:0002169	Clonus	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040283 - Occasional	49
HP:0002169	HP:0002169	Clonus	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.	8
HP:0002169	HP:0002169	Clonus	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0002169	HP:0002169	Clonus	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease		81
HP:0002169	HP:0002169	Clonus	0	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional	19
HP:0002169	HP:0002169	Clonus	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0002169	HP:0002169	Clonus	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0002169	HP:0002169	Clonus	0	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant		87
HP:0002169	HP:0002169	Clonus	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent	25
HP:0002169	HP:0002169	Clonus	0	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant		25
HP:0002169	HP:0002169	Clonus	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0002169	HP:0002169	Clonus	0	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0002169	HP:0002169	Clonus	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0002169	HP:0002169	Clonus	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0002169	HP:0002169	Clonus	0	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D	.	66
HP:0002169	HP:0002169	Clonus	0	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile	HP:0040283 - Occasional	162
HP:0002169	HP:0002169	Clonus	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	6
HP:0002169	HP:0002169	Clonus	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome		57
HP:0002169	HP:0002169	Clonus	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.	57
HP:0002169	HP:0002169	Clonus	0	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly		4
HP:0002169	HP:0002169	Clonus	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional	4
HP:0002169	HP:0002169	Clonus	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent	88
HP:0002169	HP:0002169	Clonus	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.	88
HP:0002169	HP:0002169	Clonus	0	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0002169	HP:0002169	Clonus	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional	1
HP:0002169	HP:0002169	Clonus	0	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42	HP:0040282 - Frequent	48
HP:0002169	HP:0002169	Clonus	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome		5
HP:0002169	HP:0002169	Clonus	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0002169	HP:0002169	Clonus	0	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0002169	HP:0002169	Clonus	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1		51
HP:0002169	HP:0002169	Clonus	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine		4
HP:0002169	HP:0002169	Clonus	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0002169	HP:0002169	Clonus	0	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0002169	HP:0002169	Clonus	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20		66
HP:0002169	HP:0002169	Clonus	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive		66
HP:0002169	HP:0002169	Clonus	0	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4		208
HP:0002169	HP:0002169	Clonus	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	287
HP:0002169	HP:0002169	Clonus	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive		287
HP:0002169	HP:0002169	Clonus	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002169	HP:0002169	Clonus	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	54
HP:0002169	HP:0002169	Clonus	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency		14
HP:0002169	HP:0002169	Clonus	0	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16		14
HP:0002169	HP:0002169	Clonus	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type		1129
HP:0002169	HP:0002169	Clonus	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	.	12
HP:0002169	HP:0002169	Clonus	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0002169	HP:0002169	Clonus	0	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040281 - Very frequent	1
HP:0002169	HP:0002169	Clonus	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX	HP:0040284 - Very rare	1
HP:0002169	HP:0002169	Clonus	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome		15
HP:0002169	HP:0002169	Clonus	0	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68	.
HP:0002169	HP:0002169	Clonus	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B	.	84
HP:0002169	HP:0002169	Clonus	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent
HP:0002169	HP:0002169	Clonus	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0002169	HP:0002169	Clonus	0	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	.
HP:0002169	HP:0002169	Clonus	0	USP8 CL E G H	9101	12631	ORPHA:401795	Autosomal recessive spastic paraplegia type 59	HP:0040282 - Frequent	7
HP:0002169	HP:0002169	Clonus	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0002169	HP:0002169	Clonus	0	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53	HP:0040281 - Very frequent	7
HP:0002169	HP:0002169	Clonus	0	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7
HP:0002169	HP:0002169	Clonus	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040283 - Occasional	83
HP:0002169	HP:0002169	Clonus	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.	189
HP:0002169	HP:0002169	Clonus	0	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant		52
HP:0002169	HP:0011728	Elbow clonus	1	CL E G H
HP:0002169	HP:0011448	Ankle clonus	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0002169	HP:0011448	Ankle clonus	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional	135
HP:0002169	HP:0011448	Ankle clonus	1	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal		88
HP:0002169	HP:0011448	Ankle clonus	1	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent	64
HP:0002169	HP:0011448	Ankle clonus	1	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040282 - Frequent	71
HP:0002169	HP:0011448	Ankle clonus	1	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome	HP:0040283 - Occasional	36
HP:0002169	HP:0011448	Ankle clonus	1	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76	HP:0040283 - Occasional	4
HP:0002169	HP:0011448	Ankle clonus	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0002169	HP:0011448	Ankle clonus	1	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0002169	HP:0011448	Ankle clonus	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0002169	HP:0011448	Ankle clonus	1	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040282 - Frequent	57
HP:0002169	HP:0011448	Ankle clonus	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional	18
HP:0002169	HP:0011448	Ankle clonus	1	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040283 - Occasional	18
HP:0002169	HP:0011448	Ankle clonus	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040282 - Frequent	76
HP:0002169	HP:0011448	Ankle clonus	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	HP:0040283 - Occasional	76
HP:0002169	HP:0011448	Ankle clonus	1	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0002169	HP:0011448	Ankle clonus	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	160
HP:0002169	HP:0011448	Ankle clonus	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.	30
HP:0002169	HP:0011449	Knee clonus	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.	30
HP:0002169	HP:0011448	Ankle clonus	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0002169	HP:0011448	Ankle clonus	1	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.	12
HP:0002169	HP:0011448	Ankle clonus	1	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive	.	276
HP:0002169	HP:0011448	Ankle clonus	1	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040284 - Very rare	93
HP:0002169	HP:0011448	Ankle clonus	1	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.	93
HP:0002169	HP:0011449	Knee clonus	1	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.	93
HP:0002169	HP:0011448	Ankle clonus	1	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0002169	HP:0011449	Knee clonus	1	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0002169	HP:0011448	Ankle clonus	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0002169	HP:0011448	Ankle clonus	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0002169	HP:0011448	Ankle clonus	1	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0002169	HP:0011448	Ankle clonus	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.	12
HP:0002169	HP:0011448	Ankle clonus	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0002169	HP:0011448	Ankle clonus	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent	40
HP:0002169	HP:0011448	Ankle clonus	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	81
HP:0002169	HP:0011448	Ankle clonus	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0002169	HP:0011448	Ankle clonus	1	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant	.	87
HP:0002169	HP:0011448	Ankle clonus	1	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.	25
HP:0002169	HP:0011449	Knee clonus	1	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.	25
HP:0002169	HP:0011448	Ankle clonus	1	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome	.	4
HP:0002169	HP:0011448	Ankle clonus	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040280 - Obligate
HP:0002169	HP:0011448	Ankle clonus	1	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0002169	HP:0011448	Ankle clonus	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional	57
HP:0002169	HP:0011448	Ankle clonus	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly		4
HP:0002169	HP:0011448	Ankle clonus	1	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent	5
HP:0002169	HP:0011448	Ankle clonus	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2	.	5
HP:0002169	HP:0011449	Knee clonus	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0002169	HP:0011448	Ankle clonus	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0002169	HP:0011448	Ankle clonus	1	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0002169	HP:0011448	Ankle clonus	1	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0002169	HP:0011448	Ankle clonus	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040283 - Occasional	66
HP:0002169	HP:0011449	Knee clonus	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0002169	HP:0011448	Ankle clonus	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0002169	HP:0011448	Ankle clonus	1	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040282 - Frequent	208
HP:0002169	HP:0011449	Knee clonus	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0002169	HP:0011448	Ankle clonus	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0002169	HP:0011448	Ankle clonus	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional	14
HP:0002169	HP:0011448	Ankle clonus	1	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16	HP:0040283 - Occasional	14
HP:0002169	HP:0011448	Ankle clonus	1	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional	1129
HP:0002169	HP:0011448	Ankle clonus	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent	15
HP:0002169	HP:0011448	Ankle clonus	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.	21
HP:0002169	HP:0011448	Ankle clonus	1	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0002169	HP:0011448	Ankle clonus	1	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant	.	52