Human Phenotype Ontology

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

Grandparent Node:
Abnormal motor neuron morphology (HP:0002450)

Grandparent Node:
Atrophy/Degeneration affecting the central nervous system (HP:0007367)

Parent Node:
Motor neuron atrophy (HP:0007373)

..Starting node
..Amyotrophic lateral sclerosis (HP:0007354)

Term ID:

7354

Name:

Amyotrophic lateral sclerosis

Synonym:

Lou Gehrig's disease

Definition:

Comments:

Reference:

HP:0007354

Genes and Diseases:

Child Nodes:

Sister Nodes:

Degeneration of anterior horn cells (HP:0002398)

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:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.	114
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent	114
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	32
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	ANG CL E G H	283	483	OMIM:611895	Amyotrophic lateral sclerosis 9	.	32
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	ANXA11 CL E G H	311	535	OMIM:617839	Amyotrophic lateral sclerosis 23	.
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	11
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	56
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.	56
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	11
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.	11
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	42
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8		126
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	86
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1		86
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	4
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	15
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	ERBB4 CL E G H	2066	3432	OMIM:615515	Amyotrophic lateral sclerosis 19	.	15
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	111
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	FIG4 CL E G H	9896	16873	OMIM:612577	Amyotrophic lateral sclerosis 11		111
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	105
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	FUS CL E G H	2521	4010	OMIM:608030	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia	.	105
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent	105
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	45
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	31
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	HNRNPA1 CL E G H	3178	5031	OMIM:615426	Amyotrophic lateral sclerosis 20	.	31
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	31
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	5
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	KIF5A CL E G H	3798	6323	OMIM:617921	Amyotrophic lateral sclerosis, susceptibility to, 25	.	93
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia	.	140
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	80
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.	80
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent	80
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	24
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1		24
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	101
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24		101
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	62
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12	.	62
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	6
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	PFN1 CL E G H	5216	8881	OMIM:614808	AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18		6
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	4
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	2
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	1
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	1
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	25
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1		25
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia	.	241
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile	.	162
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	SIGMAR1 CL E G H	10280	8157	OMIM:614373	Amyotrophic lateral sclerosis 16, juvenile	.	6
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent	6
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	53
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1		53
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile	.	287
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent	287
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent	54
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	62
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.	62
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	65
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	.	65
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	20
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.	20
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26		5
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	31
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	TRPM7 CL E G H	54822	17994	OMIM:105500	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	.	2
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	TUBA4A CL E G H	7277	12407	OMIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia	.	6
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	20
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia	HP:0040280 - Obligate	20
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	1
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	116
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8	.	116
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	63
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0007354	HP:0007354	Amyotrophic lateral sclerosis	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	63

Genes (50) :ALS2 ANG ANXA11 ATXN2 C9ORF72 CCNF CFAP410 CHCHD10 CHMP2B CYLD DAO DCTN1 EPHA4 ERBB4 FIG4 FUS GLE1 GLT8D1 HNRNPA1 HNRNPA2B1 KIF5A MAPT MATR3 NEFH NEK1 OPTN PFN1 PON1 PON2 PON3 PPARGC1A PRPH PSEN1 SETX SIGMAR1 SOD1 SPG11 SPTLC1 SQSTM1 TAF15 TARDBP TBK1 TIA1 TREM2 TRPM7 TUBA4A UBQLN2 UNC13A VAPB VCP

Diseases (34) :OMIM:205100 ORPHA:300605 ORPHA:803 OMIM:611895 OMIM:617839 OMIM:105550 OMIM:619141 OMIM:615911 OMIM:619132 OMIM:105400 OMIM:615515 OMIM:612577 OMIM:608030 OMIM:615426 ORPHA:52430 OMIM:617921 OMIM:600274 OMIM:606070 ORPHA:600 OMIM:617892 OMIM:613435 OMIM:614808 OMIM:602433 OMIM:614373 OMIM:602099 OMIM:616437 OMIM:612069 OMIM:616439 OMIM:619133 OMIM:105500 OMIM:616208 OMIM:300857 OMIM:608627 OMIM:613954

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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