Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal reflex (HP:0031826)

Parent Node:
Abnormal pyramidal sign (HP:0007256)

Parent Node:
Abnormal superficial reflex (HP:0031828)

..Starting node
..Babinski sign (HP:0003487)

Term ID:

3487

Name:

Babinski sign

Synonym:

Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign

Definition:

Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.

Comments:

Reference:

HP:0003487

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent abdominal reflex (HP:0031827)

Absent cremaster reflex (HP:0031829)

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:0003487	HP:0003487	Babinski sign	0	AAAS CL E G H	8086	231550	Glucocorticoid deficiency with achalasia	231550	C0271742	OMIM	1	187	13666	605378
HP:0003487	HP:0003487	Babinski sign	0	ABCB7 CL E G H	22	301310	Anemia sideroblastic and spinocerebellar ataxia	301310	C1845028	OMIM	1	247	48	300135
HP:0003487	HP:0003487	Babinski sign	0	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	430	15868	613599
HP:0003487	HP:0003487	Babinski sign	0	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	517	119	609751
HP:0003487	HP:0003487	Babinski sign	0	ADAR CL E G H	103	225154				ORPHA	1	818	225	146920
HP:0003487	HP:0003487	Babinski sign	0	ADGRG1 CL E G H	9289	606854	Polymicrogyria, bilateral frontoparietal	606854	C1847352	OMIM	1	625	4512	604110
HP:0003487	HP:0003487	Babinski sign	0	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0003487	HP:0003487	Babinski sign	0	AFG3L2 CL E G H	10939	101109				ORPHA	1	385	315	604581
HP:0003487	HP:0003487	Babinski sign	0	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	385	315	604581
HP:0003487	HP:0003487	Babinski sign	0	ALDH18A1 CL E G H	5832	447760				ORPHA	1	437	9722	138250
HP:0003487	HP:0003487	Babinski sign	0	ALDH18A1 CL E G H	5832	447757				ORPHA	1	437	9722	138250
HP:0003487	HP:0003487	Babinski sign	0	ALDH18A1 CL E G H	5832	447753				ORPHA	1	437	9722	138250
HP:0003487	HP:0003487	Babinski sign	0	ALDH18A1 CL E G H	5832	601162	Spastic paraplegia 9	601162	C1832669	OMIM	1	437	9722	138250
HP:0003487	HP:0003487	Babinski sign	0	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	437	9722	138250
HP:0003487	HP:0003487	Babinski sign	0	ALS2 CL E G H	57679	205100	Amyotrophic lateral sclerosis type 2	205100	C1859807	OMIM	1	754	443	606352
HP:0003487	HP:0003487	Babinski sign	0	ALS2 CL E G H	57679	607225	Infantile-onset ascending hereditary spastic paralysis	607225	C2931441	OMIM	1	754	443	606352
HP:0003487	HP:0003487	Babinski sign	0	ALS2 CL E G H	57679	606353	Juvenile primary lateral sclerosis	606353	C1853396	OMIM	1	754	443	606352
HP:0003487	HP:0003487	Babinski sign	0	AP4B1 CL E G H	10717	280763				ORPHA	1	300	572	607245
HP:0003487	HP:0003487	Babinski sign	0	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1	300	572	607245
HP:0003487	HP:0003487	Babinski sign	0	AP4E1 CL E G H	23431	280763				ORPHA	1	377	573	607244
HP:0003487	HP:0003487	Babinski sign	0	AP4E1 CL E G H	23431	613744	Spastic paraplegia 51, autosomal recessive	613744	C3151056	OMIM	1	377	573	607244
HP:0003487	HP:0003487	Babinski sign	0	AP4M1 CL E G H	9179	280763				ORPHA	1	311	574	602296
HP:0003487	HP:0003487	Babinski sign	0	AP4M1 CL E G H	9179	612936	Spastic paraplegia 50, autosomal recessive	612936	C2752008	OMIM	1	311	574	602296
HP:0003487	HP:0003487	Babinski sign	0	AP4S1 CL E G H	11154	280763				ORPHA	1	122	575	607243
HP:0003487	HP:0003487	Babinski sign	0	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	122	575	607243
HP:0003487	HP:0003487	Babinski sign	0	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	953	713	607574
HP:0003487	HP:0003487	Babinski sign	0	ATL1 CL E G H	51062	100984				ORPHA	1	408	11231	606439
HP:0003487	HP:0003487	Babinski sign	0	ATL1 CL E G H	51062	182600	Spastic paraplegia 3	182600	C2931355	OMIM	1	408	11231	606439
HP:0003487	HP:0003487	Babinski sign	0	ATP13A2 CL E G H	23400	513436				ORPHA	1	738	30213	610513
HP:0003487	HP:0003487	Babinski sign	0	ATP13A2 CL E G H	23400	306674				ORPHA	1	738	30213	610513
HP:0003487	HP:0003487	Babinski sign	0	ATP13A2 CL E G H	23400	314632				ORPHA	1	738	30213	610513
HP:0003487	HP:0003487	Babinski sign	0	ATP13A2 CL E G H	23400	606693	Parkinson disease 9	606693	C1847640	OMIM	1	738	30213	610513
HP:0003487	HP:0003487	Babinski sign	0	ATP13A2 CL E G H	23400	617225	Spastic paraplegia 78, autosomal recessive	617225	C4310662	OMIM	1	738	30213	610513
HP:0003487	HP:0003487	Babinski sign	0	ATP6AP2 CL E G H	10159	363654				ORPHA	1	303	18305	300556
HP:0003487	HP:0003487	Babinski sign	0	ATP6AP2 CL E G H	10159	300423	Mental retardation, X-linked, syndromic, Hedera type	300423	C1845543	OMIM	1	303	18305	300556
HP:0003487	HP:0003487	Babinski sign	0	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	86	10548	601556
HP:0003487	HP:0003487	Babinski sign	0	ATXN3 CL E G H	4287	276244				ORPHA	1	46	7106	607047
HP:0003487	HP:0003487	Babinski sign	0	ATXN3 CL E G H	4287	276241				ORPHA	1	46	7106	607047
HP:0003487	HP:0003487	Babinski sign	0	ATXN3 CL E G H	4287	276238				ORPHA	1	46	7106	607047
HP:0003487	HP:0003487	Babinski sign	0	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	46	7106	607047
HP:0003487	HP:0003487	Babinski sign	0	ATXN7 CL E G H	6314	94147				ORPHA	1	42	10560	607640
HP:0003487	HP:0003487	Babinski sign	0	ATXN7 CL E G H	6314	164500	Spinocerebellar ataxia 7	164500	C0752125	OMIM	1	42	10560	607640
HP:0003487	HP:0003487	Babinski sign	0	B4GALNT1 CL E G H	2583	101006				ORPHA	1	192	4117	601873
HP:0003487	HP:0003487	Babinski sign	0	B4GALNT1 CL E G H	2583	609195	Spastic paraplegia 26	609195	C1836632	OMIM	1	192	4117	601873
HP:0003487	HP:0003487	Babinski sign	0	BRAT1 CL E G H	221927	614498	Rigidity and multifocal seizure syndrome, lethal neonatal	614498	C3281029	OMIM	1	960	21701	614506
HP:0003487	HP:0003487	Babinski sign	0	BSCL2 CL E G H	26580	100998				ORPHA	1	435	15832	606158
HP:0003487	HP:0003487	Babinski sign	0	BSCL2 CL E G H	26580	270685	Spastic paraplegia 17	270685	CN074197	OMIM	1	435	15832	606158
HP:0003487	HP:0003487	Babinski sign	0	C12orf65 CL E G H	91574	320375				ORPHA	1		26784	613541
HP:0003487	HP:0003487	Babinski sign	0	C12orf65 CL E G H	91574	615035	Spastic paraplegia 55, autosomal recessive	615035	C3539506	OMIM	1		26784	613541
HP:0003487	HP:0003487	Babinski sign	0	C19orf12 CL E G H	83636	289560				ORPHA	1	276	25443	614297
HP:0003487	HP:0003487	Babinski sign	0	C19orf12 CL E G H	83636	320370				ORPHA	1	276	25443	614297
HP:0003487	HP:0003487	Babinski sign	0	C19orf12 CL E G H	83636	614298	Neurodegeneration with brain iron accumulation 4	614298	C3280371	OMIM	1	276	25443	614297
HP:0003487	HP:0003487	Babinski sign	0	C19orf12 CL E G H	83636	615043	Spastic paraplegia 43, autosomal recessive	615043	C2680446	OMIM	1	276	25443	614297
HP:0003487	HP:0003487	Babinski sign	0	CACNA1A CL E G H	773	98758				ORPHA	1	2689	1388	601011
HP:0003487	HP:0003487	Babinski sign	0	CACNA1G CL E G H	8913	458803				ORPHA	1	445	1394	604065
HP:0003487	HP:0003487	Babinski sign	0	CAPN1 CL E G H	823	488594				ORPHA	1	124	1476	114220
HP:0003487	HP:0003487	Babinski sign	0	CAV1 CL E G H	857	606721	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	606721	C1847582	OMIM	1	115	1527	601047
HP:0003487	HP:0003487	Babinski sign	0	CCT5 CL E G H	22948	139578				ORPHA	1	314	1618	610150
HP:0003487	HP:0003487	Babinski sign	0	CCT5 CL E G H	22948	256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	256840	C1850395	OMIM	1	314	1618	610150
HP:0003487	HP:0003487	Babinski sign	0	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	1	248	15559	615903
HP:0003487	HP:0003487	Babinski sign	0	CHMP2B CL E G H	25978	600795	Frontotemporal Dementia, Chromosome 3-Linked	600795	C1833296	OMIM	1	141	24537	609512
HP:0003487	HP:0003487	Babinski sign	0	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	267	8011	602346
HP:0003487	HP:0003487	Babinski sign	0	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1258	2202	120130
HP:0003487	HP:0003487	Babinski sign	0	CPT1C CL E G H	126129	444099				ORPHA	1	133	18540	608846
HP:0003487	HP:0003487	Babinski sign	0	CPT1C CL E G H	126129	616282	Spastic paraplegia 73, autosomal dominant	616282	C4225387	OMIM	1	133	18540	608846
HP:0003487	HP:0003487	Babinski sign	0	CTDP1 CL E G H	9150	604168	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	604168	C1858726	OMIM	1	383	2498	604927
HP:0003487	HP:0003487	Babinski sign	0	CTSF CL E G H	8722	615362	Ceroid lipofuscinosis, neuronal, 13	615362	C3715049	OMIM	1	182	2531	603539
HP:0003487	HP:0003487	Babinski sign	0	CWF19L1 CL E G H	55280	453521				ORPHA	1	66	25613	616120
HP:0003487	HP:0003487	Babinski sign	0	CYP2U1 CL E G H	113612	320411				ORPHA	1	195	20582	610670
HP:0003487	HP:0003487	Babinski sign	0	CYP2U1 CL E G H	113612	615030	Spastic paraplegia 56, autosomal recessive	615030	C3539507	OMIM	1	195	20582	610670
HP:0003487	HP:0003487	Babinski sign	0	CYP7B1 CL E G H	9420	100986				ORPHA	1	333	2652	603711
HP:0003487	HP:0003487	Babinski sign	0	CYP7B1 CL E G H	9420	270800	Spastic paraplegia 5A	270800	C1849115	OMIM	1	333	2652	603711
HP:0003487	HP:0003487	Babinski sign	0	DARS CL E G H	1615	615281	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	615281	C3809008	OMIM	1		2678	603084
HP:0003487	HP:0003487	Babinski sign	0	DARS2 CL E G H	55157	611105	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	611105	C1970180	OMIM	1	294	25538	610956
HP:0003487	HP:0003487	Babinski sign	0	DDC CL E G H	1644	608643	Deficiency of aromatic-L-amino-acid decarboxylase	608643	C1291564	OMIM	1	365	2719	107930
HP:0003487	HP:0003487	Babinski sign	0	DDHD1 CL E G H	80821	101008				ORPHA	1	302	19714	614603
HP:0003487	HP:0003487	Babinski sign	0	DDHD1 CL E G H	80821	609340	Spastic paraplegia 28, autosomal recessive	609340	C1836295	OMIM	1	302	19714	614603
HP:0003487	HP:0003487	Babinski sign	0	DDHD2 CL E G H	23259	615033	Spastic paraplegia 54, autosomal recessive	615033	C3539495	OMIM	1	249	29106	615003
HP:0003487	HP:0003487	Babinski sign	0	DPM3 CL E G H	54344	263494				ORPHA	1	60	3007	605951
HP:0003487	HP:0003487	Babinski sign	0	DSTYK CL E G H	25778	270750	Spastic paraplegia 23	270750	C0796019	OMIM	1	102	29043	612666
HP:0003487	HP:0003487	Babinski sign	0	EIF2S3 CL E G H	1968	300148	MEHMO syndrome	300148	C1846278	OMIM	1	190	3267	300161
HP:0003487	HP:0003487	Babinski sign	0	ERLIN2 CL E G H	11160	209951				ORPHA	1	159	1356	611605
HP:0003487	HP:0003487	Babinski sign	0	ERLIN2 CL E G H	11160	611225	Spastic paraplegia 18	611225	C2749936	OMIM	1	159	1356	611605
HP:0003487	HP:0003487	Babinski sign	0	FA2H CL E G H	79152	171629				ORPHA	1	312	21197	611026
HP:0003487	HP:0003487	Babinski sign	0	FA2H CL E G H	79152	612319	Spastic paraplegia 35	612319	C3668943	OMIM	1	312	21197	611026
HP:0003487	HP:0003487	Babinski sign	0	FAM126A CL E G H	84668	610532	Hypomyelination and Congenital Cataract	610532	C1864663	OMIM	1		24587	610531
HP:0003487	HP:0003487	Babinski sign	0	FARS2 CL E G H	10667	617046	Spastic paraplegia 77, autosomal recessive	617046	C4310750	OMIM	1	479	21062	611592
HP:0003487	HP:0003487	Babinski sign	0	FBXO7 CL E G H	25793	171695				ORPHA	1	191	13586	605648
HP:0003487	HP:0003487	Babinski sign	0	FBXO7 CL E G H	25793	260300	Parkinson disease 15	260300	C1850100	OMIM	1	191	13586	605648
HP:0003487	HP:0003487	Babinski sign	0	FTL CL E G H	2512	606159	Neuroferritinopathy	606159	C1853578	OMIM	1	151	3999	134790
HP:0003487	HP:0003487	Babinski sign	0	FXN CL E G H	2395	95				ORPHA	1	143	3951	606829
HP:0003487	HP:0003487	Babinski sign	0	FXN CL E G H	2395	229300	Friedreich ataxia 1	229300	C1856689	OMIM	1	143	3951	606829
HP:0003487	HP:0003487	Babinski sign	0	GAD1 CL E G H	2571	603513	Cerebral palsy, spastic quadriplegic, 1	603513	C2751938	OMIM	1	189	4092	605363
HP:0003487	HP:0003487	Babinski sign	0	GBA2 CL E G H	57704	352641				ORPHA	1	277	18986	609471
HP:0003487	HP:0003487	Babinski sign	0	GBA2 CL E G H	57704	320391				ORPHA	1	277	18986	609471
HP:0003487	HP:0003487	Babinski sign	0	GBA2 CL E G H	57704	614409	Spastic paraplegia 46, autosomal recessive	614409	C2828721	OMIM	1	277	18986	609471
HP:0003487	HP:0003487	Babinski sign	0	GCH1 CL E G H	2643	98808				ORPHA	1	364	4193	600225
HP:0003487	HP:0003487	Babinski sign	0	GCH1 CL E G H	2643	128230	Dystonia 5, Dopa-responsive type	128230	C1851920	OMIM	1	364	4193	600225
HP:0003487	HP:0003487	Babinski sign	0	GJC2 CL E G H	57165	608804	Leukodystrophy, hypomyelinating, 2	608804	C1837355	OMIM	1	250	17494	608803
HP:0003487	HP:0003487	Babinski sign	0	GJC2 CL E G H	57165	613206	Spastic paraplegia 44, autosomal recessive	613206	C2750784	OMIM	1	250	17494	608803
HP:0003487	HP:0003487	Babinski sign	0	GLRX5 CL E G H	51218	401866				ORPHA	1	77	20134	609588
HP:0003487	HP:0003487	Babinski sign	0	GLRX5 CL E G H	51218	616859	Spasticity, childhood-onset, with hyperglycinemia	616859	C4225178	OMIM	1	77	20134	609588
HP:0003487	HP:0003487	Babinski sign	0	GPT2 CL E G H	84706	477673	ANO5-Related Disorders		CN239193	ORPHA	1	86	18062	138210
HP:0003487	HP:0003487	Babinski sign	0	HSPD1 CL E G H	3329	100994				ORPHA	1	207	5261	118190
HP:0003487	HP:0003487	Babinski sign	0	HSPD1 CL E G H	3329	612233	Leukodystrophy, hypomyelinating, 4	612233	C2677109	OMIM	1	207	5261	118190
HP:0003487	HP:0003487	Babinski sign	0	HSPD1 CL E G H	3329	605280	Spastic paraplegia 13	605280	C1854467	OMIM	1	207	5261	118190
HP:0003487	HP:0003487	Babinski sign	0	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	225	9476	602194
HP:0003487	HP:0003487	Babinski sign	0	IBA57 CL E G H	200205	616451	Spastic paraplegia 74, autosomal recessive	616451	C4225322	OMIM	1	178	27302	615316
HP:0003487	HP:0003487	Babinski sign	0	KCNA1 CL E G H	3736	160120	Episodic ataxia type 1	160120	C1719788	OMIM	1	476	6218	176260
HP:0003487	HP:0003487	Babinski sign	0	KDM5C CL E G H	8242	300534	Mental retardation, syndromic, Claes-Jensen type, X-linked	300534	C1845243	OMIM	1	596	11114	314690
HP:0003487	HP:0003487	Babinski sign	0	KIF1A CL E G H	547	101010				ORPHA	1	2132	888	601255
HP:0003487	HP:0003487	Babinski sign	0	KIF1A CL E G H	547	614255	Mental retardation, autosomal dominant 9	614255	C3280283	OMIM	1	2132	888	601255
HP:0003487	HP:0003487	Babinski sign	0	KIF1A CL E G H	547	610357	Spastic paraplegia 30, autosomal recessive	610357	C1835896	OMIM	1	2132	888	601255
HP:0003487	HP:0003487	Babinski sign	0	KIF1C CL E G H	10749	397946				ORPHA	1	366	6317	603060
HP:0003487	HP:0003487	Babinski sign	0	KIF1C CL E G H	10749	611302	Ataxia, spastic, 2, autosomal recessive	611302	C1969796	OMIM	1	366	6317	603060
HP:0003487	HP:0003487	Babinski sign	0	KIF5A CL E G H	3798	604187	Spastic paraplegia 10	604187	C1858712	OMIM	1	744	6323	602821
HP:0003487	HP:0003487	Babinski sign	0	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	658	6511	603590
HP:0003487	HP:0003487	Babinski sign	0	LMNB1 CL E G H	4001	169500	Leukodystrophy, adult-onset, autosomal dominant	169500	C1868512	OMIM	1	169	6637	150340
HP:0003487	HP:0003487	Babinski sign	0	MAG CL E G H	4099	459056				ORPHA	1	171	6783	159460
HP:0003487	HP:0003487	Babinski sign	0	MAG CL E G H	4099	616680	Spastic paraplegia 75, autosomal recessive	616680	C4225250	OMIM	1	171	6783	159460
HP:0003487	HP:0003487	Babinski sign	0	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1015	6826	609458
HP:0003487	HP:0003487	Babinski sign	0	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	538	13356	605248
HP:0003487	HP:0003487	Babinski sign	0	MECP2 CL E G H	4204	300055	Mental retardation, X-linked, syndromic 13	300055	C1968550	OMIM	1	1778	6990	300005
HP:0003487	HP:0003487	Babinski sign	0	MFN2 CL E G H	9927	609260	Charcot-Marie-Tooth disease, type 2A2A	609260	C1836485	OMIM	1	1063	16877	608507
HP:0003487	HP:0003487	Babinski sign	0	MT-ATP6 CL E G H	4508	644				ORPHA	1		7414	516060
HP:0003487	HP:0003487	Babinski sign	0	MT-ATP6 CL E G H	4508	225154				ORPHA	1		7414	516060
HP:0003487	HP:0003487	Babinski sign	0	MT-TE CL E G H	4556	2596	Hantavirosis			ORPHA	1		7479	590025
HP:0003487	HP:0003487	Babinski sign	0	MTPAP CL E G H	55149	254343				ORPHA	1	199	25532	613669
HP:0003487	HP:0003487	Babinski sign	0	MTPAP CL E G H	55149	613672	Ataxia, spastic, 4, autosomal recessive	613672	C3150925	OMIM	1	199	25532	613669
HP:0003487	HP:0003487	Babinski sign	0	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	332	7707	157655
HP:0003487	HP:0003487	Babinski sign	0	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	104	7711	602694
HP:0003487	HP:0003487	Babinski sign	0	NEFL CL E G H	4747	617882	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G	617882	CN847583	OMIM	1	543	7739	162280
HP:0003487	HP:0003487	Babinski sign	0	NIPA1 CL E G H	123606	100988				ORPHA	1	576	17043	608145
HP:0003487	HP:0003487	Babinski sign	0	NIPA1 CL E G H	123606	600363	Spastic paraplegia 6	600363	C1838192	OMIM	1	576	17043	608145
HP:0003487	HP:0003487	Babinski sign	0	NOP56 CL E G H	10528	276198				ORPHA	1	42	15911	614154
HP:0003487	HP:0003487	Babinski sign	0	NOP56 CL E G H	10528	614153	Spinocerebellar ataxia 36	614153	C3472711	OMIM	1	42	15911	614154
HP:0003487	HP:0003487	Babinski sign	0	NT5C2 CL E G H	22978	320396				ORPHA	1	158	8022	600417
HP:0003487	HP:0003487	Babinski sign	0	NT5C2 CL E G H	22978	613162	Spastic paraplegia 45, autosomal recessive	613162	C3888209	OMIM	1	158	8022	600417
HP:0003487	HP:0003487	Babinski sign	0	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	237	20278	613621
HP:0003487	HP:0003487	Babinski sign	0	NUP62 CL E G H	23636	225154				ORPHA	1	97	8066	605815
HP:0003487	HP:0003487	Babinski sign	0	OPA1 CL E G H	4976	210000	Abortive cerebellar ataxia	210000	C0221061	OMIM	1	885	8140	605290
HP:0003487	HP:0003487	Babinski sign	0	OPA3 CL E G H	80207	258501	3-Methylglutaconic aciduria type 3	258501	C0574084	OMIM	1	448	8142	606580
HP:0003487	HP:0003487	Babinski sign	0	PDYN CL E G H	5173	101108				ORPHA	1	167	8820	131340
HP:0003487	HP:0003487	Babinski sign	0	PDYN CL E G H	5173	610245	Spinocerebellar ataxia 23	610245	C1853250	OMIM	1	167	8820	131340
HP:0003487	HP:0003487	Babinski sign	0	PGAP1 CL E G H	80055	401820				ORPHA	1	261	25712	611655
HP:0003487	HP:0003487	Babinski sign	0	PIGT CL E G H	51604	615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	615398	C3809356	OMIM	1	161	14938	610272
HP:0003487	HP:0003487	Babinski sign	0	PLA2G6 CL E G H	8398	610217	Neurodegeneration with brain iron accumulation 2b	610217	C1857747	OMIM	1	598	9039	603604
HP:0003487	HP:0003487	Babinski sign	0	PLP1 CL E G H	5354	99015				ORPHA	1	391	9086	300401
HP:0003487	HP:0003487	Babinski sign	0	PLP1 CL E G H	5354	312920	Spastic paraplegia 2	312920	C1839264	OMIM	1	391	9086	300401
HP:0003487	HP:0003487	Babinski sign	0	PNPLA6 CL E G H	10908	139480				ORPHA	1	943	16268	603197
HP:0003487	HP:0003487	Babinski sign	0	PNPLA6 CL E G H	10908	612020	Spastic paraplegia 39	612020	C2677586	OMIM	1	943	16268	603197
HP:0003487	HP:0003487	Babinski sign	0	POLR3A CL E G H	11128	447896				ORPHA	1	785	30074	614258
HP:0003487	HP:0003487	Babinski sign	0	POLR3A CL E G H	11128	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	785	30074	614258
HP:0003487	HP:0003487	Babinski sign	0	POLR3B CL E G H	55703	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	368	30348	614366
HP:0003487	HP:0003487	Babinski sign	0	PRICKLE1 CL E G H	144165	612437	Progressive myoclonus epilepsy with ataxia	612437	C2676254	OMIM	1	488	17019	608500
HP:0003487	HP:0003487	Babinski sign	0	PRNP CL E G H	5621	282166				ORPHA	1	164	9449	176640
HP:0003487	HP:0003487	Babinski sign	0	PRSS12 CL E G H	8492	249500	Mental retardation, autosomal recessive 1	249500	C1855304	OMIM	1	177	9477	606709
HP:0003487	HP:0003487	Babinski sign	0	PSAP CL E G H	5660	611721	Combined saposin deficiency	611721	C2673635	OMIM	1	598	9498	176801
HP:0003487	HP:0003487	Babinski sign	0	PSAP CL E G H	5660	249900	Sphingolipid activator protein 1 deficiency	249900	C0268262	OMIM	1	598	9498	176801
HP:0003487	HP:0003487	Babinski sign	0	PSEN1 CL E G H	5663	607822	Alzheimer disease, type 3	607822	C1843013	OMIM	1	452	9508	104311
HP:0003487	HP:0003487	Babinski sign	0	PYCR2 CL E G H	29920	616420	Leukodystrophy, hypomyelinating, 10	616420	C4225332	OMIM	1	104	30262	616406
HP:0003487	HP:0003487	Babinski sign	0	REEP1 CL E G H	65055	610250	Spastic paraplegia 31, autosomal dominant	610250	C1853247	OMIM	1	377	25786	609139
HP:0003487	HP:0003487	Babinski sign	0	REEP2 CL E G H	51308	615625	Spastic paraplegia 72, autosomal recessive	615625	C3810160	OMIM	1	76	17975	609347
HP:0003487	HP:0003487	Babinski sign	0	RNF170 CL E G H	81790	608984	Ataxia, sensory, autosomal dominant	608984	C1837015	OMIM	1	68	25358	614649
HP:0003487	HP:0003487	Babinski sign	0	RTN2 CL E G H	6253	100993				ORPHA	1	184	10468	603183
HP:0003487	HP:0003487	Babinski sign	0	RTN2 CL E G H	6253	604805	Spastic paraplegia 12	604805	C1858106	OMIM	1	184	10468	603183
HP:0003487	HP:0003487	Babinski sign	0	RUSC2 CL E G H	9853	617773	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61	617773	C4540424	OMIM	1	584	23625	611053
HP:0003487	HP:0003487	Babinski sign	0	SACS CL E G H	26278	98				ORPHA	1	2506	10519	604490
HP:0003487	HP:0003487	Babinski sign	0	SACS CL E G H	26278	270550	Spastic ataxia Charlevoix-Saguenay type	270550	C1849140	OMIM	1	2506	10519	604490
HP:0003487	HP:0003487	Babinski sign	0	SAMD9L CL E G H	219285	159550	Myelocerebellar disorder	159550	C1327919	OMIM	1	379	1349	611170
HP:0003487	HP:0003487	Babinski sign	0	SDHA CL E G H	6389	3208				ORPHA	1	2186	10680	600857
HP:0003487	HP:0003487	Babinski sign	0	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2186	10680	600857
HP:0003487	HP:0003487	Babinski sign	0	SDHAF1 CL E G H	644096	3208				ORPHA	1	60	33867	612848
HP:0003487	HP:0003487	Babinski sign	0	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	60	33867	612848
HP:0003487	HP:0003487	Babinski sign	0	SDHB CL E G H	6390	3208				ORPHA	1	1099	10681	185470
HP:0003487	HP:0003487	Babinski sign	0	SDHD CL E G H	6392	3208				ORPHA	1	607	10683	602690
HP:0003487	HP:0003487	Babinski sign	0	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	607	10683	602690
HP:0003487	HP:0003487	Babinski sign	0	SETX CL E G H	23064	357043				ORPHA	1	1290	445	608465
HP:0003487	HP:0003487	Babinski sign	0	SETX CL E G H	23064	602433	Amyotrophic lateral sclerosis type 4	602433	C1865409	OMIM	1	1290	445	608465
HP:0003487	HP:0003487	Babinski sign	0	SIGMAR1 CL E G H	10280	605726	Distal spinal muscular atrophy, autosomal recessive 2	605726	C1854023	OMIM	1	206	8157	601978
HP:0003487	HP:0003487	Babinski sign	0	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	355	10923	300095
HP:0003487	HP:0003487	Babinski sign	0	SLC19A3 CL E G H	80704	607483	Basal ganglia disease, biotin-responsive	607483	C1843807	OMIM	1	482	16266	606152
HP:0003487	HP:0003487	Babinski sign	0	SLC1A4 CL E G H	6509	616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	616657	C4225254	OMIM	1	143	10942	600229
HP:0003487	HP:0003487	Babinski sign	0	SLC2A1 CL E G H	6513	606777	GLUT1 deficiency syndrome 1	606777	CN030711	OMIM	1	827	11005	138140
HP:0003487	HP:0003487	Babinski sign	0	SLC33A1 CL E G H	9197	171863				ORPHA	1	145	95	603690
HP:0003487	HP:0003487	Babinski sign	0	SLC33A1 CL E G H	9197	612539	Spastic paraplegia 42, autosomal dominant	612539	C2675528	OMIM	1	145	95	603690
HP:0003487	HP:0003487	Babinski sign	0	SLC39A14 CL E G H	23516	617013	Hypermanganesemia with dystonia 2	617013	C4310765	OMIM	1	176	20858	608736
HP:0003487	HP:0003487	Babinski sign	0	SNCA CL E G H	6622	171695				ORPHA	1	177	11138	163890
HP:0003487	HP:0003487	Babinski sign	0	SNX14 CL E G H	57231	616354	Spinocerebellar ataxia, autosomal recessive 20	616354	C4225355	OMIM	1	162	14977	616105
HP:0003487	HP:0003487	Babinski sign	0	SPART CL E G H	23111	101000				ORPHA	1	274	18514	607111
HP:0003487	HP:0003487	Babinski sign	0	SPART CL E G H	23111	275900	Troyer syndrome	275900	C0393559	OMIM	1	274	18514	607111
HP:0003487	HP:0003487	Babinski sign	0	SPAST CL E G H	6683	100985				ORPHA	1	1014	11233	604277
HP:0003487	HP:0003487	Babinski sign	0	SPAST CL E G H	6683	182601	Spastic paraplegia 4, autosomal dominant	182601	C1866855	OMIM	1	1014	11233	604277
HP:0003487	HP:0003487	Babinski sign	0	SPG11 CL E G H	80208	602099	Amyotrophic lateral sclerosis type 5	602099	C1865864	OMIM	1	2165	11226	610844
HP:0003487	HP:0003487	Babinski sign	0	SPG11 CL E G H	80208	604360	Spastic paraplegia 11, autosomal recessive	604360	C1858479	OMIM	1	2165	11226	610844
HP:0003487	HP:0003487	Babinski sign	0	SPG21 CL E G H	51324	248900	Mast syndrome	248900	C1855346	OMIM	1	145	20373	608181
HP:0003487	HP:0003487	Babinski sign	0	SPG7 CL E G H	6687	35689				ORPHA	1	778	11237	602783
HP:0003487	HP:0003487	Babinski sign	0	SPG7 CL E G H	6687	99013				ORPHA	1	778	11237	602783
HP:0003487	HP:0003487	Babinski sign	0	SPG7 CL E G H	6687	607259	Spastic paraplegia 7	607259	C1846564	OMIM	1	778	11237	602783
HP:0003487	HP:0003487	Babinski sign	0	TAF2 CL E G H	6873	615599	Mental retardation, autosomal recessive 40	615599	C3810080	OMIM	1	169	11536	604912
HP:0003487	HP:0003487	Babinski sign	0	TARDBP CL E G H	23435	612069	Amyotrophic lateral sclerosis type 10	612069	C2677565	OMIM	1	259	11571	605078
HP:0003487	HP:0003487	Babinski sign	0	TFG CL E G H	10342	431329				ORPHA	1	307	11758	602498
HP:0003487	HP:0003487	Babinski sign	0	TFG CL E G H	10342	615658	Spastic paraplegia 57, autosomal recessive	615658	C3714897	OMIM	1	307	11758	602498
HP:0003487	HP:0003487	Babinski sign	0	TGM6 CL E G H	343641	276193				ORPHA	1	289	16255	613900
HP:0003487	HP:0003487	Babinski sign	0	TGM6 CL E G H	343641	613908	Spinocerebellar ataxia 35	613908	C3888031	OMIM	1	289	16255	613900
HP:0003487	HP:0003487	Babinski sign	0	TH CL E G H	7054	101150				ORPHA	1	794	11782	191290
HP:0003487	HP:0003487	Babinski sign	0	TPP1 CL E G H	1200	284324				ORPHA	1	849	2073	607998
HP:0003487	HP:0003487	Babinski sign	0	TPP1 CL E G H	1200	609270	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	609270	C1836474	OMIM	1	849	2073	607998
HP:0003487	HP:0003487	Babinski sign	0	TRMT5 CL E G H	57570	616539	Combined oxidative phosphorylation deficiency 26	616539	C4225290	OMIM	1	98	23141	611023
HP:0003487	HP:0003487	Babinski sign	0	TSEN2 CL E G H	80746	612389	Pontocerebellar hypoplasia type 2B	612389	C2676466	OMIM	1	239	28422	608753
HP:0003487	HP:0003487	Babinski sign	0	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	85	12449	604142
HP:0003487	HP:0003487	Babinski sign	0	UCHL1 CL E G H	7345	615491	Spastic paraplegia 79, autosomal recessive	615491	C3809665	OMIM	1	111	12513	191342
HP:0003487	HP:0003487	Babinski sign	0	VAMP1 CL E G H	6843	251282				ORPHA	1	118	12642	185880
HP:0003487	HP:0003487	Babinski sign	0	VCP CL E G H	7415	329475				ORPHA	1	473	12666	601023
HP:0003487	HP:0003487	Babinski sign	0	VPS13D CL E G H	55187	607317	Spinocerebellar ataxia autosomal recessive 4	607317	C1846492	OMIM	1	390	23595	608877
HP:0003487	HP:0003487	Babinski sign	0	WASHC5 CL E G H	9897	100989				ORPHA	1	527	28984	610657
HP:0003487	HP:0003487	Babinski sign	0	WASHC5 CL E G H	9897	603563	Spastic paraplegia 8	603563	C1863704	OMIM	1	527	28984	610657
HP:0003487	HP:0003487	Babinski sign	0	ZFR CL E G H	51663	401840				ORPHA	1	90	17277	615635
HP:0003487	HP:0003487	Babinski sign	0	ZFYVE26 CL E G H	23503	100996				ORPHA	1	1894	20761	612012
HP:0003487	HP:0003487	Babinski sign	0	ZFYVE26 CL E G H	23503	270700	Spastic paraplegia 15	270700	C1849128	OMIM	1	1894	20761	612012
HP:0003487	HP:0003487	Babinski sign	0	ZFYVE27 CL E G H	118813	610244	Spastic paraplegia 33, autosomal dominant	610244	C1853251	OMIM	1	154	26559	610243
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003487	HP:0003487	Babinski sign	0	ARSA CL E G H	410	309256				ORPHA	0	953	713	607574
HP:0003487	HP:0003487	Babinski sign	0	ARSA CL E G H	410	309271				ORPHA	0	953	713	607574
HP:0003487	HP:0003487	Babinski sign	0	ARSA CL E G H	410	309263				ORPHA	0	953	713	607574
HP:0003487	HP:0003487	Babinski sign	0	ATP6AP2 CL E G H	10159	300911	Parkinsonism with spasticity, X-linked	300911	C3806722	OMIM	0	303	18305	300556
HP:0003487	HP:0003487	Babinski sign	0	ATXN10 CL E G H	25814	98761				ORPHA	0	108	10549	611150
HP:0003487	HP:0003487	Babinski sign	0	C9orf72 CL E G H	203228	275872				ORPHA	0	173	28337	614260
HP:0003487	HP:0003487	Babinski sign	0	CACNA1G CL E G H	8913	616795	Spinocerebellar ataxia 42	616795	C4225205	OMIM	0	445	1394	604065
HP:0003487	HP:0003487	Babinski sign	0	CAPN1 CL E G H	823	616907	Spastic paraplegia 76, autosomal recessive	616907	C4310800	OMIM	0	124	1476	114220
HP:0003487	HP:0003487	Babinski sign	0	CHCHD10 CL E G H	400916	275872				ORPHA	0	248	15559	615903
HP:0003487	HP:0003487	Babinski sign	0	CHMP2B CL E G H	25978	614696	Amyotrophic lateral sclerosis 17	614696	C1836076	OMIM	0	141	24537	609512
HP:0003487	HP:0003487	Babinski sign	0	DKK1 CL E G H	22943	268882				ORPHA	0	24	2891	605189
HP:0003487	HP:0003487	Babinski sign	0	DNAJC3 CL E G H	5611	445062				ORPHA	0	105	9439	601184
HP:0003487	HP:0003487	Babinski sign	0	DNAJC3 CL E G H	5611	616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	616192	C4015436	OMIM	0	105	9439	601184
HP:0003487	HP:0003487	Babinski sign	0	DNMT1 CL E G H	1786	314404				ORPHA	0	995	2976	126375
HP:0003487	HP:0003487	Babinski sign	0	EEF2 CL E G H	1938	101112				ORPHA	0	204	3214	130610
HP:0003487	HP:0003487	Babinski sign	0	ERLIN1 CL E G H	10613	615681	Spastic paraplegia 62, autosomal recessive	615681	C4284588	OMIM	0	97	16947	611604
HP:0003487	HP:0003487	Babinski sign	0	FUS CL E G H	2521	275872				ORPHA	0	409	4010	137070
HP:0003487	HP:0003487	Babinski sign	0	GAN CL E G H	8139	643				ORPHA	0	661	4137	605379
HP:0003487	HP:0003487	Babinski sign	0	GJB1 CL E G H	2705	1175	CDK4 linked melanoma			ORPHA	0	797	4283	304040
HP:0003487	HP:0003487	Babinski sign	0	GJB1 CL E G H	2705	302800	X-linked hereditary motor and sensory neuropathy	302800	C0393808	OMIM	0	797	4283	304040
HP:0003487	HP:0003487	Babinski sign	0	GRID2 CL E G H	2895	616204	Spinocerebellar ataxia, autosomal recessive 18	616204	C4015505	OMIM	0	158	4576	602368
HP:0003487	HP:0003487	Babinski sign	0	HADHA CL E G H	3030	746	Apert like polydactyly syndrome			ORPHA	0	630	4801	600890
HP:0003487	HP:0003487	Babinski sign	0	HADHB CL E G H	3032	746	Apert like polydactyly syndrome			ORPHA	0	263	4803	143450
HP:0003487	HP:0003487	Babinski sign	0	IBA57 CL E G H	200205	468661				ORPHA	0	178	27302	615316
HP:0003487	HP:0003487	Babinski sign	0	KY CL E G H	339855	496689				ORPHA	0	87	26576	605739
HP:0003487	HP:0003487	Babinski sign	0	MDH2 CL E G H	4191	617339	Epileptic encephalopathy, early infantile, 51	617339	C4479208	OMIM	0	463	6971	154100
HP:0003487	HP:0003487	Babinski sign	0	MFN2 CL E G H	9927	99947				ORPHA	0	1063	16877	608507
HP:0003487	HP:0003487	Babinski sign	0	MT-ATP6 CL E G H	4508	320360				ORPHA	0		7414	516060
HP:0003487	HP:0003487	Babinski sign	0	NEFH CL E G H	4744	616924	Charcot-Marie-Tooth disease, axonal, type 2CC	616924	C4310790	OMIM	0	465	7737	162230
HP:0003487	HP:0003487	Babinski sign	0	PIK3R5 CL E G H	23533	64753				ORPHA	0	48	30035	611317
HP:0003487	HP:0003487	Babinski sign	0	PSAP CL E G H	5660	309263				ORPHA	0	598	9498	176801
HP:0003487	HP:0003487	Babinski sign	0	PSAP CL E G H	5660	309256				ORPHA	0	598	9498	176801
HP:0003487	HP:0003487	Babinski sign	0	PSAP CL E G H	5660	309271				ORPHA	0	598	9498	176801
HP:0003487	HP:0003487	Babinski sign	0	RNASEH1 CL E G H	246243	616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	C4225312	OMIM	0	104	18466	604123
HP:0003487	HP:0003487	Babinski sign	0	SETX CL E G H	23064	64753				ORPHA	0	1290	445	608465
HP:0003487	HP:0003487	Babinski sign	0	SLC25A46 CL E G H	91137	616505	NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB	616505	C4225302	OMIM	0	325	25198	610826
HP:0003487	HP:0003487	Babinski sign	0	SQSTM1 CL E G H	8878	275872				ORPHA	0	542	11280	601530
HP:0003487	HP:0003487	Babinski sign	0	TARDBP CL E G H	23435	275872				ORPHA	0	259	11571	605078
HP:0003487	HP:0003487	Babinski sign	0	TBK1 CL E G H	29110	275872				ORPHA	0	294	11584	604834
HP:0003487	HP:0003487	Babinski sign	0	TSEN15 CL E G H	116461	617026	Pontocerebellar hypoplasia, type 2f	617026	C4310757	OMIM	0	53	16791	608756
HP:0003487	HP:0003487	Babinski sign	0	TTC19 CL E G H	54902	615157	Mitochondrial complex III deficiency, nuclear type 2	615157	C3554605	OMIM	0	263	26006	613814
HP:0003487	HP:0003487	Babinski sign	0	VCP CL E G H	7415	275872				ORPHA	0	473	12666	601023
HP:0003487	HP:0003487	Babinski sign	0	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	967	12799	605131

Genes (175) :AAAS ABCB7 ABHD12 ACOX1 ADAR ADGRG1 ADPRHL2 AFG3L2 ALDH18A1 ALS2 AP4B1 AP4E1 AP4M1 AP4S1 ARSA ATL1 ATP13A2 ATP6 ATP6AP2 ATXN1 ATXN10 ATXN3 ATXN7 B4GALNT1 BRAT1 BSCL2 C12ORF65 C12orf65 C19ORF12 C19orf12 C9ORF72 CACNA1A CACNA1G CAPN1 CAV1 CCT5 CHCHD10 CHMP2B CNTNAP1 COL4A1 CPT1C CTDP1 CTSF CWF19L1 CYP2U1 CYP7B1 DARS DARS2 DDC DDHD1 DDHD2 DKK1 DNAJC3 DNMT1 DPM3 DSTYK EEF2 EIF2S3 ERLIN1 ERLIN2 FA2H FAM126A FARS2 FBXO7 FTL FUS FXN GAD1 GAN GBA2 GCH1 GJB1 GJC2 GLRX5 GPT2 GRID2 HADHA HADHB HSPD1 HTRA1 IBA57 KCNA1 KDM5C KIF1A KIF1C KIF5A KY LARGE1 LMNB1 MAG MAN2B1 MCOLN1 MDH2 MECP2 MFN2 MT-ATP6 MT-TE MTPAP NDUFS1 NDUFS4 NEFH NEFL NIPA1 NOP56 NT5C2 NUBPL NUP62 OPA1 OPA3 PDYN PGAP1 PIGT PIK3R5 PLA2G6 PLP1 PNPLA6 POLR3A POLR3B PRICKLE1 PRNP PRSS12 PSAP PSEN1 PYCR2 REEP1 REEP2 RNASEH1 RNF170 RTN2 RUSC2 SACS SAMD9L SDHA SDHAF1 SDHB SDHD SETX SIGMAR1 SLC16A2 SLC19A3 SLC1A4 SLC25A46 SLC2A1 SLC33A1 SLC39A14 SNCA SNX14 SPART SPAST SPG11 SPG21 SPG7 SQSTM1 TAF2 TARDBP TBK1 TFG TGM6 TH TPP1 TRMT5 TRNE TSEN15 TSEN2 TTC19 TYROBP UCHL1 VAMP1 VCP VPS13D WASHC5 WWOX ZFR ZFYVE26 ZFYVE27

Diseases (241) :231550 301310 612674 264470 225154 606854 618170 101109 610246 447760 447753 447757 601162 616586 205100 607225 606353 280763 614066 613744 612936 614067 309271 309263 309256 250100 100984 182600 513436 314632 306674 606693 617225 320360 644 363654 300423 300911 164400 98761 276244 276238 276241 109150 94147 164500 101006 609195 614498 100998 270685 320375 615035 289560 320370 614298 615043 275872 98758 458803 616795 488594 616907 606721 139578 256840 615911 614696 600795 618186 175780 444099 616282 604168 615362 453521 320411 615030 100986 270800 615281 611105 608643 101008 609340 615033 268882 445062 616192 314404 263494 270750 101112 300148 615681 209951 611225 171629 612319 610532 617046 171695 260300 606159 95 229300 603513 643 352641 320391 614409 98808 128230 1175 302800 608804 613206 401866 616859 477673 616204 746 100994 612233 605280 600142 468661 616451 160120 300534 101010 614255 610357 397946 611302 604187 496689 608840 169500 459056 616680 248500 252650 617339 300055 99947 609260 254343 613672 618226 252010 616924 617882 100988 600363 276198 614153 320396 613162 618242 210000 258501 101108 610245 401820 615398 64753 610217 99015 312920 139480 612020 447896 607694 612437 282166 249500 611721 249900 607822 616420 610250 615625 616479 608984 100993 604805 617773 98 270550 159550 3208 252011 357043 602433 605726 300523 607483 616657 616505 606777 171863 612539 617013 616354 101000 275900 100985 182601 602099 604360 248900 99013 35689 607259 615599 612069 431329 615658 276193 613908 101150 284324 609270 616539 2596 617026 612389 615157 221770 615491 251282 329475 607317 100989 603563 614322 401840 100996 270700 610244

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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