Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy			135
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	HP:0040282 - Frequent		60
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending			114
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant			71
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD			239
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.		9
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	ATXN8 CL E G H	724066	32925	OMIM:608768	Spinocerebellar ataxia 8	.		1
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	ATXN8OS CL E G H	6315	10561	OMIM:608768	Spinocerebellar ataxia 8	.		1
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73			1
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.		160
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	DCC CL E G H	1630	2701	ORPHA:238722	Familial congenital mirror movements			36
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1			86
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	DNAL4 CL E G H	10126	2955	ORPHA:238722	Familial congenital mirror movements			2
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria	.		44
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4			184
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040283 - Occasional		160
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.		121
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13	.		17
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius			134
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.		34
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	MAPT CL E G H	4137	6893	OMIM:260540	Supranuclear palsy, progressive atypical	.		140
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1			24
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant			117
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	NTN1 CL E G H	9423	8029	ORPHA:238722	Familial congenital mirror movements
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency			37
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.		133
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked			60
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.		37
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome	HP:0040282 - Frequent		69
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1			25
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	RAD51 CL E G H	5888	9817	ORPHA:238722	Familial congenital mirror movements			9
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12			25
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)	.		110
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.		88
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9	.		255
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42			48
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1	.		13
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1			53
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1	.		56
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8			116
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8			83
HP:0002062	HP:0002062	Morphological abnormality of the pyramidal tract	0	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant			83
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy			135
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.	HP:0003593 - Infantile onset	114
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant			71
HP:0002062	HP:0007363	Aplasia/Hypoplasia of the pyramidal tract	1	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD			239
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73			1
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	DCC CL E G H	1630	2701	ORPHA:238722	Familial congenital mirror movements	HP:0040282 - Frequent		36
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1			86
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	DNAL4 CL E G H	10126	2955	ORPHA:238722	Familial congenital mirror movements	HP:0040282 - Frequent		2
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0002062	HP:0007363	Aplasia/Hypoplasia of the pyramidal tract	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4			184
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040284 - Very rare		160
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius			134
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1			24
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant			117
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	NTN1 CL E G H	9423	8029	ORPHA:238722	Familial congenital mirror movements	HP:0040282 - Frequent
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency			37
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked			60
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1			25
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	RAD51 CL E G H	5888	9817	ORPHA:238722	Familial congenital mirror movements	HP:0040282 - Frequent		9
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12			25
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42			48
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1			53
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8			83
HP:0002062	HP:0002492	Morphological abnormality of the corticospinal tract	1	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant			83
HP:0002062	HP:0100322	Aplasia of the pyramidal tract	2	CL E G H
HP:0002062	HP:0008361	Corticospinal tract pallor	2	CL E G H
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent		135
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant			71
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73			1
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1			86
HP:0002062	HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	2	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002062	HP:0007348	Hypoplasia of the pyramidal tract	2	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.		184
HP:0002062	HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	2	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0002062	HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	2	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0002062	HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	2	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius			134
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1			24
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant			117
HP:0002062	HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	2	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency			37
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked			60
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1			25
HP:0002062	HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	2	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12			25
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42			48
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1			53
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8			83
HP:0002062	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant			83
HP:0002062	HP:0002314	Degeneration of the lateral corticospinal tracts	3	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.		71
HP:0002062	HP:0007117	Corticospinal tract atrophy	3	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0002062	HP:0007117	Corticospinal tract atrophy	3	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa	.
HP:0002062	HP:0002314	Degeneration of the lateral corticospinal tracts	3	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		56
HP:0002062	HP:0002314	Degeneration of the lateral corticospinal tracts	3	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		11
HP:0002062	HP:0002314	Degeneration of the lateral corticospinal tracts	3	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040281 - Very frequent		1
HP:0002062	HP:0002314	Degeneration of the lateral corticospinal tracts	3	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1	.		86
HP:0002062	HP:0007016	Corticospinal tract hypoplasia	3	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		33
HP:0002062	HP:0007016	Corticospinal tract hypoplasia	3	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0002062	HP:0002314	Degeneration of the lateral corticospinal tracts	3	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		105
HP:0002062	HP:0007016	Corticospinal tract hypoplasia	3	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		119
HP:0002062	HP:0002314	Degeneration of the lateral corticospinal tracts	3	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040281 - Very frequent
HP:0002062	HP:0007016	Corticospinal tract hypoplasia	3	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius	.		134
HP:0002062	HP:0002314	Degeneration of the lateral corticospinal tracts	3	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1	.		24
HP:0002062	HP:0002314	Degeneration of the lateral corticospinal tracts	3	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.		117
HP:0002062	HP:0007016	Corticospinal tract hypoplasia	3	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040283 - Occasional		37
HP:0002062	HP:0002314	Degeneration of the lateral corticospinal tracts	3	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.		60
HP:0002062	HP:0002314	Degeneration of the lateral corticospinal tracts	3	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1	.		25
HP:0002062	HP:0007016	Corticospinal tract hypoplasia	3	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		150
HP:0002062	HP:0002314	Degeneration of the lateral corticospinal tracts	3	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040281 - Very frequent		25
HP:0002062	HP:0002314	Degeneration of the lateral corticospinal tracts	3	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42	HP:0040281 - Very frequent		48
HP:0002062	HP:0002314	Degeneration of the lateral corticospinal tracts	3	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1	.		53
HP:0002062	HP:0002314	Degeneration of the lateral corticospinal tracts	3	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.		208
HP:0002062	HP:0002314	Degeneration of the lateral corticospinal tracts	3	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.		287
HP:0002062	HP:0002314	Degeneration of the lateral corticospinal tracts	3	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.		171
HP:0002062	HP:0002314	Degeneration of the lateral corticospinal tracts	3	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		62
HP:0002062	HP:0002314	Degeneration of the lateral corticospinal tracts	3	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		65
HP:0002062	HP:0002314	Degeneration of the lateral corticospinal tracts	3	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		20
HP:0002062	HP:0002314	Degeneration of the lateral corticospinal tracts	3	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040281 - Very frequent
HP:0002062	HP:0002314	Degeneration of the lateral corticospinal tracts	3	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		63
HP:0002062	HP:0002314	Degeneration of the lateral corticospinal tracts	3	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040281 - Very frequent		83
HP:0002062	HP:0002314	Degeneration of the lateral corticospinal tracts	3	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.		83