Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Paraplegia/paraparesis (HP:0010551)

Parent Node:
Lower limb spasticity (HP:0002061)

Parent Node:
Paraplegia (HP:0010550)

..Starting node
..Spastic paraplegia (HP:0001258)

Term ID:

1258

Name:

Spastic paraplegia

Synonym:

Spastic paraplegia, lower limb

Definition:

Spasticity and weakness of the leg and hip muscles.

Comments:

Reference:

HP:0001258

Genes and Diseases:

Child Nodes:

........

Progressive spastic paraplegia (HP:0007020)

Sister Nodes:

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:0001258	HP:0001258	Spastic paraplegia	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.	135
HP:0001258	HP:0001258	Spastic paraplegia	0	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0001258	HP:0001258	Spastic paraplegia	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	HP:0040282 - Frequent	60
HP:0001258	HP:0001258	Spastic paraplegia	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.	89
HP:0001258	HP:0001258	Spastic paraplegia	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	.	89
HP:0001258	HP:0001258	Spastic paraplegia	0	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis	HP:0040281 - Very frequent	114
HP:0001258	HP:0001258	Spastic paraplegia	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.	114
HP:0001258	HP:0001258	Spastic paraplegia	0	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive	.	21
HP:0001258	HP:0001258	Spastic paraplegia	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		49
HP:0001258	HP:0001258	Spastic paraplegia	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.	49
HP:0001258	HP:0001258	Spastic paraplegia	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		48
HP:0001258	HP:0001258	Spastic paraplegia	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.	48
HP:0001258	HP:0001258	Spastic paraplegia	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		41
HP:0001258	HP:0001258	Spastic paraplegia	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.	41
HP:0001258	HP:0001258	Spastic paraplegia	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		18
HP:0001258	HP:0001258	Spastic paraplegia	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.	18
HP:0001258	HP:0001258	Spastic paraplegia	0	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48		165
HP:0001258	HP:0001258	Spastic paraplegia	0	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive	.	165
HP:0001258	HP:0001258	Spastic paraplegia	0	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive	.	1
HP:0001258	HP:0001258	Spastic paraplegia	0	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66		1
HP:0001258	HP:0001258	Spastic paraplegia	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0001258	HP:0001258	Spastic paraplegia	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78		100
HP:0001258	HP:0001258	Spastic paraplegia	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome	.	100
HP:0001258	HP:0001258	Spastic paraplegia	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0001258	HP:0001258	Spastic paraplegia	0	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0001258	HP:0001258	Spastic paraplegia	0	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0001258	HP:0001258	Spastic paraplegia	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040283 - Occasional	169
HP:0001258	HP:0001258	Spastic paraplegia	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.	25
HP:0001258	HP:0001258	Spastic paraplegia	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17	.	105
HP:0001258	HP:0001258	Spastic paraplegia	0	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive	.	114
HP:0001258	HP:0001258	Spastic paraplegia	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040282 - Frequent	51
HP:0001258	HP:0001258	Spastic paraplegia	0	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0001258	HP:0001258	Spastic paraplegia	0	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	HP:0040281 - Very frequent	56
HP:0001258	HP:0001258	Spastic paraplegia	0	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	.	56
HP:0001258	HP:0001258	Spastic paraplegia	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy		104
HP:0001258	HP:0001258	Spastic paraplegia	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73		1
HP:0001258	HP:0001258	Spastic paraplegia	0	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant	.	1
HP:0001258	HP:0001258	Spastic paraplegia	0	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56	HP:0040283 - Occasional	18
HP:0001258	HP:0001258	Spastic paraplegia	0	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive	.	18
HP:0001258	HP:0001258	Spastic paraplegia	0	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040281 - Very frequent	57
HP:0001258	HP:0001258	Spastic paraplegia	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive	.	57
HP:0001258	HP:0001258	Spastic paraplegia	0	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive	.	35
HP:0001258	HP:0001258	Spastic paraplegia	0	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54	HP:0040281 - Very frequent	29
HP:0001258	HP:0001258	Spastic paraplegia	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	.	29
HP:0001258	HP:0001258	Spastic paraplegia	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	94
HP:0001258	HP:0001258	Spastic paraplegia	0	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23	HP:0040282 - Frequent	13
HP:0001258	HP:0001258	Spastic paraplegia	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23	.	13
HP:0001258	HP:0001258	Spastic paraplegia	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy		33
HP:0001258	HP:0001258	Spastic paraplegia	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0001258	HP:0001258	Spastic paraplegia	0	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive		3
HP:0001258	HP:0001258	Spastic paraplegia	0	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.	18
HP:0001258	HP:0001258	Spastic paraplegia	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040281 - Very frequent	76
HP:0001258	HP:0001258	Spastic paraplegia	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration		76
HP:0001258	HP:0001258	Spastic paraplegia	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.	76
HP:0001258	HP:0001258	Spastic paraplegia	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77		36
HP:0001258	HP:0001258	Spastic paraplegia	0	FARS2 CL E G H	10667	21062	OMIM:617046	Spastic paraplegia 77, autosomal recessive	.	36
HP:0001258	HP:0001258	Spastic paraplegia	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0001258	HP:0001258	Spastic paraplegia	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy		61
HP:0001258	HP:0001258	Spastic paraplegia	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.	121
HP:0001258	HP:0001258	Spastic paraplegia	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0001258	HP:0001258	Spastic paraplegia	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.	30
HP:0001258	HP:0001258	Spastic paraplegia	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form	.	86
HP:0001258	HP:0001258	Spastic paraplegia	0	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	.	37
HP:0001258	HP:0001258	Spastic paraplegia	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040282 - Frequent	4
HP:0001258	HP:0001258	Spastic paraplegia	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome		10
HP:0001258	HP:0001258	Spastic paraplegia	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0001258	HP:0001258	Spastic paraplegia	0	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0001258	HP:0001258	Spastic paraplegia	0	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040281 - Very frequent	46
HP:0001258	HP:0001258	Spastic paraplegia	0	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant	.	46
HP:0001258	HP:0001258	Spastic paraplegia	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0001258	HP:0001258	Spastic paraplegia	0	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive	.	16
HP:0001258	HP:0001258	Spastic paraplegia	0	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS		2
HP:0001258	HP:0001258	Spastic paraplegia	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0001258	HP:0001258	Spastic paraplegia	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0001258	HP:0001258	Spastic paraplegia	0	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome		4
HP:0001258	HP:0001258	Spastic paraplegia	0	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30		276
HP:0001258	HP:0001258	Spastic paraplegia	0	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive	.	276
HP:0001258	HP:0001258	Spastic paraplegia	0	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.	93
HP:0001258	HP:0001258	Spastic paraplegia	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.	1
HP:0001258	HP:0001258	Spastic paraplegia	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome		1
HP:0001258	HP:0001258	Spastic paraplegia	0	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0001258	HP:0001258	Spastic paraplegia	0	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome		3
HP:0001258	HP:0001258	Spastic paraplegia	0	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius		134
HP:0001258	HP:0001258	Spastic paraplegia	0	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome	HP:0040281 - Very frequent	134
HP:0001258	HP:0001258	Spastic paraplegia	0	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome	.	134
HP:0001258	HP:0001258	Spastic paraplegia	0	L1CAM CL E G H	3897	6470	ORPHA:306617	X-linked complicated spastic paraplegia type 1	HP:0040281 - Very frequent	134
HP:0001258	HP:0001258	Spastic paraplegia	0	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5	.	71
HP:0001258	HP:0001258	Spastic paraplegia	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy		21
HP:0001258	HP:0001258	Spastic paraplegia	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0001258	HP:0001258	Spastic paraplegia	0	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75	HP:0040281 - Very frequent	4
HP:0001258	HP:0001258	Spastic paraplegia	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0001258	HP:0001258	Spastic paraplegia	0	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70
HP:0001258	HP:0001258	Spastic paraplegia	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0001258	HP:0001258	Spastic paraplegia	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy		29
HP:0001258	HP:0001258	Spastic paraplegia	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	.
HP:0001258	HP:0001258	Spastic paraplegia	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy		91
HP:0001258	HP:0001258	Spastic paraplegia	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy		7
HP:0001258	HP:0001258	Spastic paraplegia	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy		3
HP:0001258	HP:0001258	Spastic paraplegia	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy		19
HP:0001258	HP:0001258	Spastic paraplegia	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy		4
HP:0001258	HP:0001258	Spastic paraplegia	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0001258	HP:0001258	Spastic paraplegia	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy		26
HP:0001258	HP:0001258	Spastic paraplegia	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy		34
HP:0001258	HP:0001258	Spastic paraplegia	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy		39
HP:0001258	HP:0001258	Spastic paraplegia	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy		81
HP:0001258	HP:0001258	Spastic paraplegia	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy		65
HP:0001258	HP:0001258	Spastic paraplegia	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy		22
HP:0001258	HP:0001258	Spastic paraplegia	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0001258	HP:0001258	Spastic paraplegia	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy		38
HP:0001258	HP:0001258	Spastic paraplegia	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy		42
HP:0001258	HP:0001258	Spastic paraplegia	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy		74
HP:0001258	HP:0001258	Spastic paraplegia	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0001258	HP:0001258	Spastic paraplegia	0	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6	HP:0040281 - Very frequent	117
HP:0001258	HP:0001258	Spastic paraplegia	0	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.	117
HP:0001258	HP:0001258	Spastic paraplegia	0	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45	HP:0040281 - Very frequent	15
HP:0001258	HP:0001258	Spastic paraplegia	0	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive	.	15
HP:0001258	HP:0001258	Spastic paraplegia	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040283 - Occasional	214
HP:0001258	HP:0001258	Spastic paraplegia	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	214
HP:0001258	HP:0001258	Spastic paraplegia	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040283 - Occasional	59
HP:0001258	HP:0001258	Spastic paraplegia	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.	59
HP:0001258	HP:0001258	Spastic paraplegia	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy		88
HP:0001258	HP:0001258	Spastic paraplegia	0	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.	98
HP:0001258	HP:0001258	Spastic paraplegia	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy		6
HP:0001258	HP:0001258	Spastic paraplegia	0	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B	.	47
HP:0001258	HP:0001258	Spastic paraplegia	0	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67		20
HP:0001258	HP:0001258	Spastic paraplegia	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0001258	HP:0001258	Spastic paraplegia	0	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome		60
HP:0001258	HP:0001258	Spastic paraplegia	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0001258	HP:0001258	Spastic paraplegia	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.	60
HP:0001258	HP:0001258	Spastic paraplegia	0	PNPLA6 CL E G H	10908	16268	ORPHA:139480	Autosomal recessive spastic paraplegia type 39	HP:0040282 - Frequent	103
HP:0001258	HP:0001258	Spastic paraplegia	0	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome	.	103
HP:0001258	HP:0001258	Spastic paraplegia	0	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive		103
HP:0001258	HP:0001258	Spastic paraplegia	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69		135
HP:0001258	HP:0001258	Spastic paraplegia	0	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant	.	87
HP:0001258	HP:0001258	Spastic paraplegia	0	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive	.	3
HP:0001258	HP:0001258	Spastic paraplegia	0	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2	HP:0040283 - Occasional	34
HP:0001258	HP:0001258	Spastic paraplegia	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0001258	HP:0001258	Spastic paraplegia	0	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23		1
HP:0001258	HP:0001258	Spastic paraplegia	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12		25
HP:0001258	HP:0001258	Spastic paraplegia	0	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.	25
HP:0001258	HP:0001258	Spastic paraplegia	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy		304
HP:0001258	HP:0001258	Spastic paraplegia	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0001258	HP:0001258	Spastic paraplegia	0	SETX CL E G H	23064	445	ORPHA:357043	Amyotrophic lateral sclerosis type 4	HP:0040283 - Occasional	162
HP:0001258	HP:0001258	Spastic paraplegia	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.	57
HP:0001258	HP:0001258	Spastic paraplegia	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy		110
HP:0001258	HP:0001258	Spastic paraplegia	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent	88
HP:0001258	HP:0001258	Spastic paraplegia	0	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9	.	255
HP:0001258	HP:0001258	Spastic paraplegia	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040283 - Occasional	255
HP:0001258	HP:0001258	Spastic paraplegia	0	SLC2A1 CL E G H	6513	11005	ORPHA:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity	HP:0040282 - Frequent	255
HP:0001258	HP:0001258	Spastic paraplegia	0	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42		48
HP:0001258	HP:0001258	Spastic paraplegia	0	SLC33A1 CL E G H	9197	95	OMIM:612539	Spastic paraplegia 42, autosomal dominant	.	48
HP:0001258	HP:0001258	Spastic paraplegia	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0001258	HP:0001258	Spastic paraplegia	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0001258	HP:0001258	Spastic paraplegia	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0001258	HP:0001258	Spastic paraplegia	0	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	.	28
HP:0001258	HP:0001258	Spastic paraplegia	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.	171
HP:0001258	HP:0001258	Spastic paraplegia	0	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.	237
HP:0001258	HP:0001258	Spastic paraplegia	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy		73
HP:0001258	HP:0001258	Spastic paraplegia	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy		23
HP:0001258	HP:0001258	Spastic paraplegia	0	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive	.	39
HP:0001258	HP:0001258	Spastic paraplegia	0	TFG CL E G H	10342	11758	ORPHA:431329	Autosomal recessive spastic paraplegia type 57	HP:0040281 - Very frequent	18
HP:0001258	HP:0001258	Spastic paraplegia	0	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive	.	18
HP:0001258	HP:0001258	Spastic paraplegia	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.	6
HP:0001258	HP:0001258	Spastic paraplegia	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0001258	HP:0001258	Spastic paraplegia	0	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant	.
HP:0001258	HP:0001258	Spastic paraplegia	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.	21
HP:0001258	HP:0001258	Spastic paraplegia	0	USP8 CL E G H	9101	12631	ORPHA:401795	Autosomal recessive spastic paraplegia type 59	HP:0040281 - Very frequent	7
HP:0001258	HP:0001258	Spastic paraplegia	0	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1	HP:0040282 - Frequent	2
HP:0001258	HP:0001258	Spastic paraplegia	0	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant	.	2
HP:0001258	HP:0001258	Spastic paraplegia	0	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome	HP:0040280 - Obligate	63
HP:0001258	HP:0001258	Spastic paraplegia	0	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7
HP:0001258	HP:0001258	Spastic paraplegia	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8		83
HP:0001258	HP:0001258	Spastic paraplegia	0	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.	83
HP:0001258	HP:0001258	Spastic paraplegia	0	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	.	1
HP:0001258	HP:0001258	Spastic paraplegia	0	WDR48 CL E G H	57599	30914	ORPHA:401800	Autosomal recessive spastic paraplegia type 60	HP:0040282 - Frequent	1
HP:0001258	HP:0001258	Spastic paraplegia	0	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71		1
HP:0001258	HP:0001258	Spastic paraplegia	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent	189
HP:0001258	HP:0001258	Spastic paraplegia	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.	189
HP:0001258	HP:0001258	Spastic paraplegia	0	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant	.	52
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040281 - Very frequent	49
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040281 - Very frequent	48
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040281 - Very frequent	41
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040281 - Very frequent	18
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48	HP:0040281 - Very frequent	165
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66	HP:0040282 - Frequent	1
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040281 - Very frequent	100
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia	HP:0040281 - Very frequent
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	HP:0040282 - Frequent	56
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	104
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040281 - Very frequent	1
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	33
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040281 - Very frequent	76
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040280 - Obligate	36
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	61
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040281 - Very frequent	10
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040281 - Very frequent	16
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type	.	81
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	HP:0040282 - Frequent	4
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30	HP:0040281 - Very frequent	276
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent	1
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040281 - Very frequent
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040282 - Frequent	3
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	21
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70	HP:0040282 - Frequent
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	29
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	91
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	7
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	3
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	19
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	4
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	26
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	34
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	39
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	81
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	65
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	22
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	38
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	42
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	74
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	88
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	6
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67	HP:0040282 - Frequent	20
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome	HP:0040282 - Frequent	60
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive		103
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69	HP:0040282 - Frequent	135
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040281 - Very frequent	25
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	304
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040280 - Obligate
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	110
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42	HP:0040281 - Very frequent	48
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	73
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	23
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040281 - Very frequent
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040281 - Very frequent	83
HP:0001258	HP:0007020	Progressive spastic paraplegia	1	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71	HP:0040282 - Frequent	1

Genes (135) :ABCD1 ABHD16A AIFM1 ALDH18A1 ALS2 AMPD2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 ARL6IP1 ARSI ATL1 ATP13A2 ATP5MC3 ATP6 ATRX B4GALNT1 BSCL2 C19ORF12 CACNA1D CAPN1 CCT5 COX15 CPT1C CYP2U1 CYP7B1 DDHD1 DDHD2 DNM1L DSTYK ECHS1 ELOVL1 ENTPD1 ERLIN2 FA2H FARS2 FLRT1 FOXRED1 GAN GBA1 GBA2 GBE1 GJC2 GPT2 HACE1 HPDL HSPD1 IBA57 INTS8 KDM5C KIDINS220 KIF1A KIF5A KLC2 KPNA3 KY L1CAM LAMB1 LIPT1 LYST MAG MAN2B1 MARS1 MECP2 MTFMT MTRFR NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NIPA1 NT5C2 OPA1 PAX3 PDHA1 PDHX PET100 PEX3 PGAP1 PI4KA PLP1 PNPLA6 RAB3GAP2 REEP1 REEP2 RNASEH2B RNF170 RNF220 RTN2 SDHA SELENOI SETX SLC16A2 SLC19A3 SLC25A15 SLC2A1 SLC33A1 SPART SPAST SPG11 SPG21 SPG7 STXBP1 SURF1 TACO1 TECPR2 TFG TOE1 UBAP1 UCHL1 USP8 VAMP1 VCP VPS37A WASHC5 WDR45B WDR48 ZFR ZFYVE26 ZFYVE27

Diseases (146) :OMIM:300100 OMIM:619735 ORPHA:83629 OMIM:601162 OMIM:616586 ORPHA:293168 OMIM:607225 OMIM:615686 ORPHA:280763 OMIM:614066 OMIM:613744 OMIM:612936 OMIM:614067 ORPHA:306511 OMIM:613647 OMIM:615685 ORPHA:401815 OMIM:182600 ORPHA:513436 OMIM:606693 OMIM:617225 OMIM:619681 ORPHA:320360 ORPHA:847 OMIM:609195 OMIM:270685 OMIM:615043 ORPHA:369929 OMIM:616907 ORPHA:139578 OMIM:256840 ORPHA:255241 ORPHA:444099 OMIM:616282 ORPHA:320411 OMIM:615030 ORPHA:100986 OMIM:270800 OMIM:609340 ORPHA:320380 OMIM:615033 ORPHA:98673 ORPHA:101003 OMIM:270750 OMIM:618527 OMIM:615683 OMIM:611225 ORPHA:171629 ORPHA:329308 OMIM:612319 ORPHA:466722 OMIM:617046 ORPHA:320406 OMIM:256850 ORPHA:2072 OMIM:614409 OMIM:263570 OMIM:613206 ORPHA:477673 ORPHA:464282 OMIM:619026 OMIM:619027 ORPHA:100994 OMIM:605280 ORPHA:468661 OMIM:616451 OMIM:618572 OMIM:300534 OMIM:617296 ORPHA:521390 ORPHA:101010 OMIM:610357 OMIM:604187 OMIM:609541 ORPHA:171612 ORPHA:496689 OMIM:307000 ORPHA:2466 OMIM:303350 ORPHA:306617 OMIM:615191 ORPHA:167 ORPHA:459056 ORPHA:309282 ORPHA:401835 OMIM:300055 OMIM:615035 ORPHA:100988 OMIM:600363 ORPHA:320396 OMIM:613162 ORPHA:1215 ORPHA:896 OMIM:148820 OMIM:245349 OMIM:617370 ORPHA:401820 OMIM:619621 ORPHA:280234 OMIM:312080 OMIM:312920 ORPHA:139480 OMIM:245800 OMIM:612020 ORPHA:401830 OMIM:610250 OMIM:615625 OMIM:610181 OMIM:619686 OMIM:619688 ORPHA:100993 OMIM:604805 ORPHA:506353 ORPHA:357043 OMIM:300523 ORPHA:415 OMIM:601042 ORPHA:168577 ORPHA:53583 ORPHA:171863 OMIM:612539 OMIM:275900 OMIM:182601 OMIM:604360 OMIM:248900 OMIM:607259 OMIM:612164 OMIM:615031 ORPHA:431329 OMIM:615658 OMIM:614969 OMIM:618418 OMIM:615491 ORPHA:401795 ORPHA:251282 OMIM:108600 ORPHA:329475 OMIM:614898 ORPHA:100989 OMIM:603563 OMIM:617977 ORPHA:401800 ORPHA:401840 ORPHA:100996 OMIM:270700 OMIM:610244

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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