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:
Morphological central nervous system abnormality (HP:0002011)

Parent Node:
Morphological abnormality of the pyramidal tract (HP:0002062)

..Starting node
..Morphological abnormality of the corticospinal tract (HP:0002492)

Term ID:

2492

Name:

Morphological abnormality of the corticospinal tract

Synonym:

Abnormality of the corticospinal tract; Involvement of the corticospinal pathways

Definition:

Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord.

Comments:

Reference:

HP:0002492

Genes and Diseases:

Child Nodes:

........

Aplasia/Hypoplasia involving the corticospinal tracts (HP:0007365)

................... HP:0007016 Corticospinal tract hypoplasia

........

Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)

................... HP:0002314 Degeneration of the lateral corticospinal tracts
................... HP:0007117 Corticospinal tract atrophy

........

Corticospinal tract pallor (HP:0008361)

Sister Nodes:

Aplasia/Hypoplasia of the pyramidal tract (HP:0007363)

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:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy			135
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.	HP:0003593 - Infantile onset	114
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant			71
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73			1
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	DCC CL E G H	1630	2701	ORPHA:238722	Familial congenital mirror movements	HP:0040282 - Frequent		36
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1			86
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	DNAL4 CL E G H	10126	2955	ORPHA:238722	Familial congenital mirror movements	HP:0040282 - Frequent		2
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040284 - Very rare		160
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius			134
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1			24
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant			117
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	NTN1 CL E G H	9423	8029	ORPHA:238722	Familial congenital mirror movements	HP:0040282 - Frequent
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency			37
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked			60
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1			25
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	RAD51 CL E G H	5888	9817	ORPHA:238722	Familial congenital mirror movements	HP:0040282 - Frequent		9
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12			25
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42			48
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1			53
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8			83
HP:0002492	HP:0002492	Morphological abnormality of the corticospinal tract	0	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant			83
HP:0002492	HP:0008361	Corticospinal tract pallor	1	CL E G H
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent		135
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant			71
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73			1
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1			86
HP:0002492	HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002492	HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0002492	HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0002492	HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	1	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius			134
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1			24
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant			117
HP:0002492	HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	1	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency			37
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked			60
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1			25
HP:0002492	HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12			25
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42			48
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1			53
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8			83
HP:0002492	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant			83
HP:0002492	HP:0002314	Degeneration of the lateral corticospinal tracts	2	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.		71
HP:0002492	HP:0007117	Corticospinal tract atrophy	2	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0002492	HP:0007117	Corticospinal tract atrophy	2	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa	.
HP:0002492	HP:0002314	Degeneration of the lateral corticospinal tracts	2	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		56
HP:0002492	HP:0002314	Degeneration of the lateral corticospinal tracts	2	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		11
HP:0002492	HP:0002314	Degeneration of the lateral corticospinal tracts	2	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040281 - Very frequent		1
HP:0002492	HP:0002314	Degeneration of the lateral corticospinal tracts	2	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1	.		86
HP:0002492	HP:0007016	Corticospinal tract hypoplasia	2	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		33
HP:0002492	HP:0007016	Corticospinal tract hypoplasia	2	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0002492	HP:0002314	Degeneration of the lateral corticospinal tracts	2	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		105
HP:0002492	HP:0007016	Corticospinal tract hypoplasia	2	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		119
HP:0002492	HP:0002314	Degeneration of the lateral corticospinal tracts	2	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040281 - Very frequent
HP:0002492	HP:0007016	Corticospinal tract hypoplasia	2	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius	.		134
HP:0002492	HP:0002314	Degeneration of the lateral corticospinal tracts	2	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1	.		24
HP:0002492	HP:0002314	Degeneration of the lateral corticospinal tracts	2	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.		117
HP:0002492	HP:0007016	Corticospinal tract hypoplasia	2	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040283 - Occasional		37
HP:0002492	HP:0002314	Degeneration of the lateral corticospinal tracts	2	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.		60
HP:0002492	HP:0002314	Degeneration of the lateral corticospinal tracts	2	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1	.		25
HP:0002492	HP:0007016	Corticospinal tract hypoplasia	2	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		150
HP:0002492	HP:0002314	Degeneration of the lateral corticospinal tracts	2	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040281 - Very frequent		25
HP:0002492	HP:0002314	Degeneration of the lateral corticospinal tracts	2	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42	HP:0040281 - Very frequent		48
HP:0002492	HP:0002314	Degeneration of the lateral corticospinal tracts	2	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1	.		53
HP:0002492	HP:0002314	Degeneration of the lateral corticospinal tracts	2	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.		208
HP:0002492	HP:0002314	Degeneration of the lateral corticospinal tracts	2	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.		287
HP:0002492	HP:0002314	Degeneration of the lateral corticospinal tracts	2	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.		171
HP:0002492	HP:0002314	Degeneration of the lateral corticospinal tracts	2	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		62
HP:0002492	HP:0002314	Degeneration of the lateral corticospinal tracts	2	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		65
HP:0002492	HP:0002314	Degeneration of the lateral corticospinal tracts	2	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		20
HP:0002492	HP:0002314	Degeneration of the lateral corticospinal tracts	2	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040281 - Very frequent
HP:0002492	HP:0002314	Degeneration of the lateral corticospinal tracts	2	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		63
HP:0002492	HP:0002314	Degeneration of the lateral corticospinal tracts	2	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040281 - Very frequent		83
HP:0002492	HP:0002314	Degeneration of the lateral corticospinal tracts	2	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.		83

Genes (57) :ABCD1 ALS2 ATL1 ATP6 BAZ1B BCL7B BUD23 C9ORF72 CHCHD10 CLIP2 CPT1C DCC DCTN1 DEAF1 DNAJC30 DNAL4 EIF4H ELN FKBP6 FLII FUS GALC GTF2I GTF2IRD1 GTF2IRD2 IQSEC2 KPNA3 L1CAM LIMK1 METTL27 MLXIPL NCF1 NEFH NIPA1 NTN1 PDHB PLP1 PRPH RAD51 RAI1 RFC2 RTN2 SLC33A1 SOD1 SPAST SPG11 SPG7 SQSTM1 STX1A TARDBP TBK1 TBL2 TMEM270 UBAP1 VCP VPS37D WASHC5

Diseases (24) :ORPHA:139399 OMIM:607225 OMIM:182600 ORPHA:644 OMIM:551500 ORPHA:904 ORPHA:275872 ORPHA:444099 ORPHA:238722 OMIM:105400 ORPHA:819 ORPHA:206448 ORPHA:171612 OMIM:307000 OMIM:600363 ORPHA:255138 OMIM:312920 ORPHA:100993 ORPHA:171863 OMIM:182601 OMIM:604360 OMIM:607259 ORPHA:100989 OMIM:603563

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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