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:
Abnormality of the nervous system (HP:0000707)

Parent Node:
Abnormal nervous system morphology (HP:0012639)

..Starting node
..Abnormal neuron morphology (HP:0012757)

Term ID:

12757

Name:

Abnormal neuron morphology

Synonym:

Abnormal neuron shape; Abnormal neuronal morphology

Definition:

A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions.

Comments:

Reference:

HP:0012757

Genes and Diseases:

Child Nodes:

........

Abnormal motor neuron morphology (HP:0002450)

................... HP:0002127 Abnormal upper motor neuron morphology
................... HP:0002366 Abnormal lower motor neuron morphology
................... HP:0006802 Abnormal anterior horn cell morphology
................... HP:0007277 Paucity of anterior horn motor neurons
................... HP:0007373 Motor neuron atrophy

........

Abnormal neuron branching (HP:0500032)

Sister Nodes:

Abnormal myelination (HP:0012447)

Abnormal peripheral nervous system morphology (HP:0000759)

Morphological central nervous system abnormality (HP:0002011)

Neoplasm of the nervous system (HP:0004375)

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:0012757	HP:0012757	Abnormal neuron morphology	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0012757	HP:0012757	Abnormal neuron morphology	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional		19
HP:0012757	HP:0012757	Abnormal neuron morphology	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant			89
HP:0012757	HP:0012757	Abnormal neuron morphology	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0012757	HP:0012757	Abnormal neuron morphology	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0012757	HP:0012757	Abnormal neuron morphology	0	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis			114
HP:0012757	HP:0012757	Abnormal neuron morphology	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile			114
HP:0012757	HP:0012757	Abnormal neuron morphology	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending			114
HP:0012757	HP:0012757	Abnormal neuron morphology	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis			32
HP:0012757	HP:0012757	Abnormal neuron morphology	0	ANG CL E G H	283	483	OMIM:611895	Amyotrophic lateral sclerosis 9			32
HP:0012757	HP:0012757	Abnormal neuron morphology	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis
HP:0012757	HP:0012757	Abnormal neuron morphology	0	ANXA11 CL E G H	311	535	OMIM:617839	Amyotrophic lateral sclerosis 23
HP:0012757	HP:0012757	Abnormal neuron morphology	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy			78
HP:0012757	HP:0012757	Abnormal neuron morphology	0	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome			78
HP:0012757	HP:0012757	Abnormal neuron morphology	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis			11
HP:0012757	HP:0012757	Abnormal neuron morphology	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0012757	HP:0012757	Abnormal neuron morphology	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4			114
HP:0012757	HP:0012757	Abnormal neuron morphology	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis			56
HP:0012757	HP:0012757	Abnormal neuron morphology	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1			56
HP:0012757	HP:0012757	Abnormal neuron morphology	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0012757	HP:0012757	Abnormal neuron morphology	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia			56
HP:0012757	HP:0012757	Abnormal neuron morphology	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis
HP:0012757	HP:0012757	Abnormal neuron morphology	0	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0012757	HP:0012757	Abnormal neuron morphology	0	CEP126 CL E G H	57562	29264	ORPHA:65684	Monomelic amyotrophy
HP:0012757	HP:0012757	Abnormal neuron morphology	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis
HP:0012757	HP:0012757	Abnormal neuron morphology	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis			11
HP:0012757	HP:0012757	Abnormal neuron morphology	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2			11
HP:0012757	HP:0012757	Abnormal neuron morphology	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0012757	HP:0012757	Abnormal neuron morphology	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis			42
HP:0012757	HP:0012757	Abnormal neuron morphology	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia			42
HP:0012757	HP:0012757	Abnormal neuron morphology	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0012757	HP:0012757	Abnormal neuron morphology	0	CPLANE1 CL E G H	65250	25801	ORPHA:65684	Monomelic amyotrophy
HP:0012757	HP:0012757	Abnormal neuron morphology	0	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8			126
HP:0012757	HP:0012757	Abnormal neuron morphology	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis
HP:0012757	HP:0012757	Abnormal neuron morphology	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis			86
HP:0012757	HP:0012757	Abnormal neuron morphology	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1			86
HP:0012757	HP:0012757	Abnormal neuron morphology	0	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB			86
HP:0012757	HP:0012757	Abnormal neuron morphology	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis			4
HP:0012757	HP:0012757	Abnormal neuron morphology	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis			15
HP:0012757	HP:0012757	Abnormal neuron morphology	0	ERBB4 CL E G H	2066	3432	OMIM:615515	Amyotrophic lateral sclerosis 19			15
HP:0012757	HP:0012757	Abnormal neuron morphology	0	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis			18
HP:0012757	HP:0012757	Abnormal neuron morphology	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0012757	HP:0012757	Abnormal neuron morphology	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0012757	HP:0012757	Abnormal neuron morphology	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0012757	HP:0012757	Abnormal neuron morphology	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis			111
HP:0012757	HP:0012757	Abnormal neuron morphology	0	FIG4 CL E G H	9896	16873	OMIM:612577	Amyotrophic lateral sclerosis 11			111
HP:0012757	HP:0012757	Abnormal neuron morphology	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis			105
HP:0012757	HP:0012757	Abnormal neuron morphology	0	FUS CL E G H	2521	4010	OMIM:608030	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia			105
HP:0012757	HP:0012757	Abnormal neuron morphology	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0012757	HP:0012757	Abnormal neuron morphology	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0012757	HP:0012757	Abnormal neuron morphology	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form			86
HP:0012757	HP:0012757	Abnormal neuron morphology	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis			45
HP:0012757	HP:0012757	Abnormal neuron morphology	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0012757	HP:0012757	Abnormal neuron morphology	0	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1			45
HP:0012757	HP:0012757	Abnormal neuron morphology	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis
HP:0012757	HP:0012757	Abnormal neuron morphology	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia			126
HP:0012757	HP:0012757	Abnormal neuron morphology	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis			31
HP:0012757	HP:0012757	Abnormal neuron morphology	0	HNRNPA1 CL E G H	3178	5031	OMIM:615426	Amyotrophic lateral sclerosis 20			31
HP:0012757	HP:0012757	Abnormal neuron morphology	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0012757	HP:0012757	Abnormal neuron morphology	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0012757	HP:0012757	Abnormal neuron morphology	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0012757	HP:0012757	Abnormal neuron morphology	0	KIF5A CL E G H	3798	6323	OMIM:617921	Amyotrophic lateral sclerosis, susceptibility to, 25			93
HP:0012757	HP:0012757	Abnormal neuron morphology	0	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia			140
HP:0012757	HP:0012757	Abnormal neuron morphology	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia			140
HP:0012757	HP:0012757	Abnormal neuron morphology	0	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis			80
HP:0012757	HP:0012757	Abnormal neuron morphology	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21			80
HP:0012757	HP:0012757	Abnormal neuron morphology	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy			80
HP:0012757	HP:0012757	Abnormal neuron morphology	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional		68
HP:0012757	HP:0012757	Abnormal neuron morphology	0	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis			24
HP:0012757	HP:0012757	Abnormal neuron morphology	0	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1			24
HP:0012757	HP:0012757	Abnormal neuron morphology	0	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis			101
HP:0012757	HP:0012757	Abnormal neuron morphology	0	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24			101
HP:0012757	HP:0012757	Abnormal neuron morphology	0	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis			62
HP:0012757	HP:0012757	Abnormal neuron morphology	0	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12			62
HP:0012757	HP:0012757	Abnormal neuron morphology	0	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis			6
HP:0012757	HP:0012757	Abnormal neuron morphology	0	PFN1 CL E G H	5216	8881	OMIM:614808	AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18			6
HP:0012757	HP:0012757	Abnormal neuron morphology	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional		162
HP:0012757	HP:0012757	Abnormal neuron morphology	0	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4			186
HP:0012757	HP:0012757	Abnormal neuron morphology	0	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0012757	HP:0012757	Abnormal neuron morphology	0	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis			4
HP:0012757	HP:0012757	Abnormal neuron morphology	0	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis			2
HP:0012757	HP:0012757	Abnormal neuron morphology	0	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0012757	HP:0012757	Abnormal neuron morphology	0	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0012757	HP:0012757	Abnormal neuron morphology	0	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040281 - Very frequent		2
HP:0012757	HP:0012757	Abnormal neuron morphology	0	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis			25
HP:0012757	HP:0012757	Abnormal neuron morphology	0	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1			25
HP:0012757	HP:0012757	Abnormal neuron morphology	0	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia			241
HP:0012757	HP:0012757	Abnormal neuron morphology	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia			241
HP:0012757	HP:0012757	Abnormal neuron morphology	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0012757	HP:0012757	Abnormal neuron morphology	0	SCP2 CL E G H	6342	10606	OMIM:613724	Leukoencephalopathy with dystonia and motor neuropathy			4
HP:0012757	HP:0012757	Abnormal neuron morphology	0	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile			162
HP:0012757	HP:0012757	Abnormal neuron morphology	0	SIGMAR1 CL E G H	10280	8157	OMIM:614373	Amyotrophic lateral sclerosis 16, juvenile			6
HP:0012757	HP:0012757	Abnormal neuron morphology	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0012757	HP:0012757	Abnormal neuron morphology	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0012757	HP:0012757	Abnormal neuron morphology	0	SMN1 CL E G H	6606	11117	OMIM:253550	Spinal muscular atrophy, type II			22
HP:0012757	HP:0012757	Abnormal neuron morphology	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III			22
HP:0012757	HP:0012757	Abnormal neuron morphology	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV			22
HP:0012757	HP:0012757	Abnormal neuron morphology	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III			1
HP:0012757	HP:0012757	Abnormal neuron morphology	0	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis			53
HP:0012757	HP:0012757	Abnormal neuron morphology	0	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1			53
HP:0012757	HP:0012757	Abnormal neuron morphology	0	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile			287
HP:0012757	HP:0012757	Abnormal neuron morphology	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0012757	HP:0012757	Abnormal neuron morphology	0	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis			171
HP:0012757	HP:0012757	Abnormal neuron morphology	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0012757	HP:0012757	Abnormal neuron morphology	0	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis			62
HP:0012757	HP:0012757	Abnormal neuron morphology	0	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3			62
HP:0012757	HP:0012757	Abnormal neuron morphology	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0012757	HP:0012757	Abnormal neuron morphology	0	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis
HP:0012757	HP:0012757	Abnormal neuron morphology	0	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis			65
HP:0012757	HP:0012757	Abnormal neuron morphology	0	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia			65
HP:0012757	HP:0012757	Abnormal neuron morphology	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0012757	HP:0012757	Abnormal neuron morphology	0	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis			20
HP:0012757	HP:0012757	Abnormal neuron morphology	0	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4			20
HP:0012757	HP:0012757	Abnormal neuron morphology	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0012757	HP:0012757	Abnormal neuron morphology	0	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type			18
HP:0012757	HP:0012757	Abnormal neuron morphology	0	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26			5
HP:0012757	HP:0012757	Abnormal neuron morphology	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia
HP:0012757	HP:0012757	Abnormal neuron morphology	0	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis			31
HP:0012757	HP:0012757	Abnormal neuron morphology	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia			31
HP:0012757	HP:0012757	Abnormal neuron morphology	0	TRPM7 CL E G H	54822	17994	OMIM:105500	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1			2
HP:0012757	HP:0012757	Abnormal neuron morphology	0	TUBA4A CL E G H	7277	12407	OMIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia			6
HP:0012757	HP:0012757	Abnormal neuron morphology	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy			22
HP:0012757	HP:0012757	Abnormal neuron morphology	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0012757	HP:0012757	Abnormal neuron morphology	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2			35
HP:0012757	HP:0012757	Abnormal neuron morphology	0	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis			20
HP:0012757	HP:0012757	Abnormal neuron morphology	0	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia			20
HP:0012757	HP:0012757	Abnormal neuron morphology	0	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0012757	HP:0012757	Abnormal neuron morphology	0	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis			116
HP:0012757	HP:0012757	Abnormal neuron morphology	0	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8			116
HP:0012757	HP:0012757	Abnormal neuron morphology	0	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis			63
HP:0012757	HP:0012757	Abnormal neuron morphology	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0012757	HP:0012757	Abnormal neuron morphology	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0012757	HP:0012757	Abnormal neuron morphology	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0012757	HP:0012757	Abnormal neuron morphology	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia			63
HP:0012757	HP:0012757	Abnormal neuron morphology	0	VPS13D CL E G H	55187	23595	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome
HP:0012757	HP:0012757	Abnormal neuron morphology	0	VPS41 CL E G H	27072	12713	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome
HP:0012757	HP:0012757	Abnormal neuron morphology	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0012757	HP:0012757	Abnormal neuron morphology	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A			32
HP:0012757	HP:0012757	Abnormal neuron morphology	0	ZNF335 CL E G H	63925	15807	ORPHA:329228	Microcephalic primordial dwarfism due to ZNF335 deficiency	HP:0040281 - Very frequent		60
HP:0012757	HP:0500032	Abnormal neuron branching	1	CL E G H
HP:0012757	HP:0025713	Neurite dystrophy	1	CL E G H
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant			89
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis			114
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile			114
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending			114
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis			32
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	ANG CL E G H	283	483	OMIM:611895	Amyotrophic lateral sclerosis 9			32
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	ANXA11 CL E G H	311	535	OMIM:617839	Amyotrophic lateral sclerosis 23
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy			78
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome			78
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis			11
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4			114
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis			56
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1			56
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia			56
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	CEP126 CL E G H	57562	29264	ORPHA:65684	Monomelic amyotrophy
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis			11
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2			11
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis			42
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia			42
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	CPLANE1 CL E G H	65250	25801	ORPHA:65684	Monomelic amyotrophy
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8			126
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis			86
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1			86
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB			86
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis			4
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis			15
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	ERBB4 CL E G H	2066	3432	OMIM:615515	Amyotrophic lateral sclerosis 19			15
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis			18
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis			111
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	FIG4 CL E G H	9896	16873	OMIM:612577	Amyotrophic lateral sclerosis 11			111
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis			105
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	FUS CL E G H	2521	4010	OMIM:608030	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia			105
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form			86
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis			45
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1			45
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia			126
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis			31
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	HNRNPA1 CL E G H	3178	5031	OMIM:615426	Amyotrophic lateral sclerosis 20			31
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	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:0012757	HP:0002450	Abnormal motor neuron morphology	1	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:0012757	HP:0002450	Abnormal motor neuron morphology	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	KIF5A CL E G H	3798	6323	OMIM:617921	Amyotrophic lateral sclerosis, susceptibility to, 25			93
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia			140
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia			140
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis			80
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21			80
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy			80
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis			24
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1			24
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis			101
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24			101
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis			62
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12			62
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis			6
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	PFN1 CL E G H	5216	8881	OMIM:614808	AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18			6
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4			186
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis			4
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis			2
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis			25
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1			25
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia			241
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia			241
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	SCP2 CL E G H	6342	10606	OMIM:613724	Leukoencephalopathy with dystonia and motor neuropathy	.		4
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile			162
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	SIGMAR1 CL E G H	10280	8157	OMIM:614373	Amyotrophic lateral sclerosis 16, juvenile			6
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	SMN1 CL E G H	6606	11117	OMIM:253550	Spinal muscular atrophy, type II			22
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III			22
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV			22
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III			1
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis			53
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1			53
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile			287
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis			171
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis			62
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3			62
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis			65
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia			65
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis			20
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4			20
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type			18
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26			5
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis			31
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia			31
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	TRPM7 CL E G H	54822	17994	OMIM:105500	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1			2
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	TUBA4A CL E G H	7277	12407	OMIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia			6
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy			22
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2			35
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis			20
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia			20
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis			116
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8			116
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis			63
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		63
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia			63
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	VPS13D CL E G H	55187	23595	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	VPS41 CL E G H	27072	12713	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0012757	HP:0002450	Abnormal motor neuron morphology	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A			32
HP:0012757	HP:0034005	Decreased dendritic spine number	2	CL E G H
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0012757	HP:0007373	Motor neuron atrophy	2	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0012757	HP:0002127	Abnormal upper motor neuron morphology	2	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.		89
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.		114
HP:0012757	HP:0002127	Abnormal upper motor neuron morphology	2	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.		114
HP:0012757	HP:0007373	Motor neuron atrophy	2	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0012757	HP:0007373	Motor neuron atrophy	2	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0012757	HP:0002127	Abnormal upper motor neuron morphology	2	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040281 - Very frequent		114
HP:0012757	HP:0002127	Abnormal upper motor neuron morphology	2	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile	.		114
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.		114
HP:0012757	HP:0007373	Motor neuron atrophy	2	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		32
HP:0012757	HP:0007373	Motor neuron atrophy	2	ANG CL E G H	283	483	OMIM:611895	Amyotrophic lateral sclerosis 9			32
HP:0012757	HP:0007373	Motor neuron atrophy	2	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0012757	HP:0007373	Motor neuron atrophy	2	ANXA11 CL E G H	311	535	OMIM:617839	Amyotrophic lateral sclerosis 23
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	ANXA11 CL E G H	311	535	OMIM:617839	Amyotrophic lateral sclerosis 23
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy			78
HP:0012757	HP:0007373	Motor neuron atrophy	2	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy			78
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040281 - Very frequent		78
HP:0012757	HP:0007373	Motor neuron atrophy	2	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		11
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent		14
HP:0012757	HP:0007373	Motor neuron atrophy	2	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.	HP:0003584 - Late onset	114
HP:0012757	HP:0007373	Motor neuron atrophy	2	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		56
HP:0012757	HP:0007373	Motor neuron atrophy	2	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1			56
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.		56
HP:0012757	HP:0002127	Abnormal upper motor neuron morphology	2	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		56
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		56
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		56
HP:0012757	HP:0007373	Motor neuron atrophy	2	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0012757	HP:0007373	Motor neuron atrophy	2	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	CEP126 CL E G H	57562	29264	ORPHA:65684	Monomelic amyotrophy
HP:0012757	HP:0007373	Motor neuron atrophy	2	CEP126 CL E G H	57562	29264	ORPHA:65684	Monomelic amyotrophy
HP:0012757	HP:0007373	Motor neuron atrophy	2	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0012757	HP:0007373	Motor neuron atrophy	2	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		11
HP:0012757	HP:0007373	Motor neuron atrophy	2	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2			11
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		11
HP:0012757	HP:0002127	Abnormal upper motor neuron morphology	2	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		11
HP:0012757	HP:0007373	Motor neuron atrophy	2	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		42
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		42
HP:0012757	HP:0007373	Motor neuron atrophy	2	CPLANE1 CL E G H	65250	25801	ORPHA:65684	Monomelic amyotrophy
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	CPLANE1 CL E G H	65250	25801	ORPHA:65684	Monomelic amyotrophy
HP:0012757	HP:0007373	Motor neuron atrophy	2	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8			126
HP:0012757	HP:0007373	Motor neuron atrophy	2	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0012757	HP:0007373	Motor neuron atrophy	2	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		86
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1			86
HP:0012757	HP:0007373	Motor neuron atrophy	2	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1			86
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB	.		86
HP:0012757	HP:0007373	Motor neuron atrophy	2	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		4
HP:0012757	HP:0007373	Motor neuron atrophy	2	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		15
HP:0012757	HP:0007373	Motor neuron atrophy	2	ERBB4 CL E G H	2066	3432	OMIM:615515	Amyotrophic lateral sclerosis 19			15
HP:0012757	HP:0002127	Abnormal upper motor neuron morphology	2	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040281 - Very frequent		18
HP:0012757	HP:0007373	Motor neuron atrophy	2	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0012757	HP:0007373	Motor neuron atrophy	2	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0012757	HP:0007373	Motor neuron atrophy	2	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0012757	HP:0007373	Motor neuron atrophy	2	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		111
HP:0012757	HP:0007373	Motor neuron atrophy	2	FIG4 CL E G H	9896	16873	OMIM:612577	Amyotrophic lateral sclerosis 11			111
HP:0012757	HP:0007373	Motor neuron atrophy	2	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		105
HP:0012757	HP:0007373	Motor neuron atrophy	2	FUS CL E G H	2521	4010	OMIM:608030	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia			105
HP:0012757	HP:0002127	Abnormal upper motor neuron morphology	2	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		105
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		105
HP:0012757	HP:0007373	Motor neuron atrophy	2	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0012757	HP:0002127	Abnormal upper motor neuron morphology	2	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form	.		86
HP:0012757	HP:0007373	Motor neuron atrophy	2	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		45
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.		45
HP:0012757	HP:0007277	Paucity of anterior horn motor neurons	2	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.		45
HP:0012757	HP:0007277	Paucity of anterior horn motor neurons	2	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1	.		45
HP:0012757	HP:0007373	Motor neuron atrophy	2	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		126
HP:0012757	HP:0007373	Motor neuron atrophy	2	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		31
HP:0012757	HP:0007373	Motor neuron atrophy	2	HNRNPA1 CL E G H	3178	5031	OMIM:615426	Amyotrophic lateral sclerosis 20			31
HP:0012757	HP:0007373	Motor neuron atrophy	2	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0012757	HP:0007373	Motor neuron atrophy	2	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0012757	HP:0007373	Motor neuron atrophy	2	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0012757	HP:0007373	Motor neuron atrophy	2	KIF5A CL E G H	3798	6323	OMIM:617921	Amyotrophic lateral sclerosis, susceptibility to, 25			93
HP:0012757	HP:0007373	Motor neuron atrophy	2	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia			140
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		140
HP:0012757	HP:0007373	Motor neuron atrophy	2	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		80
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.		80
HP:0012757	HP:0002127	Abnormal upper motor neuron morphology	2	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.		80
HP:0012757	HP:0007373	Motor neuron atrophy	2	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21			80
HP:0012757	HP:0007373	Motor neuron atrophy	2	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy			80
HP:0012757	HP:0007373	Motor neuron atrophy	2	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		24
HP:0012757	HP:0007373	Motor neuron atrophy	2	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1			24
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1			24
HP:0012757	HP:0007373	Motor neuron atrophy	2	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		101
HP:0012757	HP:0007373	Motor neuron atrophy	2	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24			101
HP:0012757	HP:0007373	Motor neuron atrophy	2	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		62
HP:0012757	HP:0007373	Motor neuron atrophy	2	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12			62
HP:0012757	HP:0007373	Motor neuron atrophy	2	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		6
HP:0012757	HP:0007373	Motor neuron atrophy	2	PFN1 CL E G H	5216	8881	OMIM:614808	AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18			6
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4	.		186
HP:0012757	HP:0002127	Abnormal upper motor neuron morphology	2	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome	HP:0040283 - Occasional		103
HP:0012757	HP:0007373	Motor neuron atrophy	2	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		4
HP:0012757	HP:0007373	Motor neuron atrophy	2	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		2
HP:0012757	HP:0007373	Motor neuron atrophy	2	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		1
HP:0012757	HP:0007373	Motor neuron atrophy	2	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		1
HP:0012757	HP:0007373	Motor neuron atrophy	2	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		25
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1			25
HP:0012757	HP:0007373	Motor neuron atrophy	2	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1			25
HP:0012757	HP:0007373	Motor neuron atrophy	2	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia			241
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		241
HP:0012757	HP:0007373	Motor neuron atrophy	2	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent		1
HP:0012757	HP:0007373	Motor neuron atrophy	2	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile			162
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile	.		162
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile			162
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	SIGMAR1 CL E G H	10280	8157	OMIM:614373	Amyotrophic lateral sclerosis 16, juvenile	.		6
HP:0012757	HP:0007373	Motor neuron atrophy	2	SIGMAR1 CL E G H	10280	8157	OMIM:614373	Amyotrophic lateral sclerosis 16, juvenile			6
HP:0012757	HP:0002127	Abnormal upper motor neuron morphology	2	SIGMAR1 CL E G H	10280	8157	OMIM:614373	Amyotrophic lateral sclerosis 16, juvenile	.		6
HP:0012757	HP:0007373	Motor neuron atrophy	2	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0012757	HP:0007373	Motor neuron atrophy	2	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	SMN1 CL E G H	6606	11117	OMIM:253550	Spinal muscular atrophy, type II			22
HP:0012757	HP:0007373	Motor neuron atrophy	2	SMN1 CL E G H	6606	11117	OMIM:253550	Spinal muscular atrophy, type II			22
HP:0012757	HP:0007373	Motor neuron atrophy	2	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III			22
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III			22
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV			22
HP:0012757	HP:0007373	Motor neuron atrophy	2	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV			22
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III			1
HP:0012757	HP:0007373	Motor neuron atrophy	2	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III			1
HP:0012757	HP:0007373	Motor neuron atrophy	2	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		53
HP:0012757	HP:0007373	Motor neuron atrophy	2	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1			53
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1			53
HP:0012757	HP:0007373	Motor neuron atrophy	2	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile			287
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile	.		287
HP:0012757	HP:0007373	Motor neuron atrophy	2	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0012757	HP:0002127	Abnormal upper motor neuron morphology	2	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis	HP:0040281 - Very frequent		171
HP:0012757	HP:0007373	Motor neuron atrophy	2	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0012757	HP:0007373	Motor neuron atrophy	2	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		62
HP:0012757	HP:0007373	Motor neuron atrophy	2	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3			62
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.		62
HP:0012757	HP:0002127	Abnormal upper motor neuron morphology	2	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		62
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		62
HP:0012757	HP:0007373	Motor neuron atrophy	2	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0012757	HP:0007373	Motor neuron atrophy	2	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		65
HP:0012757	HP:0007373	Motor neuron atrophy	2	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia			65
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		65
HP:0012757	HP:0002127	Abnormal upper motor neuron morphology	2	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		65
HP:0012757	HP:0007373	Motor neuron atrophy	2	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		20
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.		20
HP:0012757	HP:0007373	Motor neuron atrophy	2	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4			20
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		20
HP:0012757	HP:0002127	Abnormal upper motor neuron morphology	2	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		20
HP:0012757	HP:0007373	Motor neuron atrophy	2	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type			18
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type			18
HP:0012757	HP:0007373	Motor neuron atrophy	2	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26			5
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional
HP:0012757	HP:0007373	Motor neuron atrophy	2	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		31
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		31
HP:0012757	HP:0007373	Motor neuron atrophy	2	TRPM7 CL E G H	54822	17994	OMIM:105500	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1			2
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	TRPM7 CL E G H	54822	17994	OMIM:105500	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	.		2
HP:0012757	HP:0007373	Motor neuron atrophy	2	TUBA4A CL E G H	7277	12407	OMIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia			6
HP:0012757	HP:0002127	Abnormal upper motor neuron morphology	2	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.		22
HP:0012757	HP:0007373	Motor neuron atrophy	2	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040281 - Very frequent		35
HP:0012757	HP:0007373	Motor neuron atrophy	2	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2			35
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2			35
HP:0012757	HP:0007373	Motor neuron atrophy	2	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		20
HP:0012757	HP:0007373	Motor neuron atrophy	2	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia			20
HP:0012757	HP:0007373	Motor neuron atrophy	2	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		1
HP:0012757	HP:0007373	Motor neuron atrophy	2	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		116
HP:0012757	HP:0007373	Motor neuron atrophy	2	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8			116
HP:0012757	HP:0007373	Motor neuron atrophy	2	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		63
HP:0012757	HP:0007373	Motor neuron atrophy	2	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		63
HP:0012757	HP:0002127	Abnormal upper motor neuron morphology	2	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent		63
HP:0012757	HP:0007373	Motor neuron atrophy	2	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional		63
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	VPS13D CL E G H	55187	23595	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040281 - Very frequent
HP:0012757	HP:0002366	Abnormal lower motor neuron morphology	2	VPS41 CL E G H	27072	12713	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040281 - Very frequent
HP:0012757	HP:0007373	Motor neuron atrophy	2	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0012757	HP:0006802	Abnormal anterior horn cell morphology	2	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A			32
HP:0012757	HP:0007373	Motor neuron atrophy	2	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A			32
HP:0012757	HP:0002398	Degeneration of anterior horn cells	3	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.		114
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent		114
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		32
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	ANG CL E G H	283	483	OMIM:611895	Amyotrophic lateral sclerosis 9	.		32
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	ANXA11 CL E G H	311	535	OMIM:617839	Amyotrophic lateral sclerosis 23	.
HP:0012757	HP:0002398	Degeneration of anterior horn cells	3	ANXA11 CL E G H	311	535	OMIM:617839	Amyotrophic lateral sclerosis 23
HP:0012757	HP:0002398	Degeneration of anterior horn cells	3	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.		78
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		11
HP:0012757	HP:0002398	Degeneration of anterior horn cells	3	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent		14
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		56
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.		56
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0012757	HP:0002398	Degeneration of anterior horn cells	3	CEP126 CL E G H	57562	29264	ORPHA:65684	Monomelic amyotrophy	HP:0040282 - Frequent
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		11
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.		11
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		42
HP:0012757	HP:0002398	Degeneration of anterior horn cells	3	CPLANE1 CL E G H	65250	25801	ORPHA:65684	Monomelic amyotrophy	HP:0040282 - Frequent
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8			126
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		86
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1			86
HP:0012757	HP:0002398	Degeneration of anterior horn cells	3	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1	.		86
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		4
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		15
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	ERBB4 CL E G H	2066	3432	OMIM:615515	Amyotrophic lateral sclerosis 19	.		15
HP:0012757	HP:0002398	Degeneration of anterior horn cells	3	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0012757	HP:0002398	Degeneration of anterior horn cells	3	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0012757	HP:0002398	Degeneration of anterior horn cells	3	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		111
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	FIG4 CL E G H	9896	16873	OMIM:612577	Amyotrophic lateral sclerosis 11			111
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		105
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	FUS CL E G H	2521	4010	OMIM:608030	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia	.		105
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent		105
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		45
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		31
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	HNRNPA1 CL E G H	3178	5031	OMIM:615426	Amyotrophic lateral sclerosis 20	.		31
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	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:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	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:0012757	HP:0002398	Degeneration of anterior horn cells	3	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.		209
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	KIF5A CL E G H	3798	6323	OMIM:617921	Amyotrophic lateral sclerosis, susceptibility to, 25	.		93
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia	.		140
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		80
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.		80
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent		80
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		24
HP:0012757	HP:0002398	Degeneration of anterior horn cells	3	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1	.		24
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1			24
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		101
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24			101
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		62
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12	.		62
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		6
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	PFN1 CL E G H	5216	8881	OMIM:614808	AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18			6
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		4
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		2
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		1
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		1
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		25
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1			25
HP:0012757	HP:0002398	Degeneration of anterior horn cells	3	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1	.		25
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia	.		241
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile	.		162
HP:0012757	HP:0002398	Degeneration of anterior horn cells	3	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile	.		162
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	SIGMAR1 CL E G H	10280	8157	OMIM:614373	Amyotrophic lateral sclerosis 16, juvenile	.		6
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent		6
HP:0012757	HP:0002398	Degeneration of anterior horn cells	3	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0012757	HP:0002398	Degeneration of anterior horn cells	3	SMN1 CL E G H	6606	11117	OMIM:253550	Spinal muscular atrophy, type II	.		22
HP:0012757	HP:0002398	Degeneration of anterior horn cells	3	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III	.		22
HP:0012757	HP:0002398	Degeneration of anterior horn cells	3	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV	.		22
HP:0012757	HP:0002398	Degeneration of anterior horn cells	3	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III	.		1
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		53
HP:0012757	HP:0002398	Degeneration of anterior horn cells	3	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1	.		53
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1			53
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile	.		287
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent		287
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent		54
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		62
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.		62
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		65
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	.		65
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		20
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.		20
HP:0012757	HP:0002398	Degeneration of anterior horn cells	3	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type	.		18
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26			5
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		31
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	TRPM7 CL E G H	54822	17994	OMIM:105500	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	.		2
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	TUBA4A CL E G H	7277	12407	OMIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia	.		6
HP:0012757	HP:0002398	Degeneration of anterior horn cells	3	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040281 - Very frequent		35
HP:0012757	HP:0002398	Degeneration of anterior horn cells	3	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.		35
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		20
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia	HP:0040280 - Obligate		20
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		1
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		116
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8	.		116
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate		63
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0012757	HP:0007354	Amyotrophic lateral sclerosis	3	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		63
HP:0012757	HP:0002398	Degeneration of anterior horn cells	3	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0012757	HP:0002398	Degeneration of anterior horn cells	3	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.		32

Genes (85) :AGTPBP1 AKT3 ALDH18A1 ALS2 ANG ANXA11 ASAH1 ATXN2 ATXN3 C19ORF12 C9ORF72 CCNF CEP126 CFAP410 CHCHD10 CHMP2B CNTNAP2 CPLANE1 CYLD DAO DCTN1 EPHA4 ERBB4 ERLIN2 EXOSC3 EXOSC8 EXOSC9 FIG4 FUS GBE1 GLE1 GLT8D1 GRN HNRNPA1 HNRNPA2B1 IGHMBP2 KIF5A MAPT MATR3 MTOR NEFH NEK1 OPTN PFN1 PIK3CA PLEKHG5 PNPLA6 PON1 PON2 PON3 PPARGC1A PRKAR1B PRPH PSEN1 RBM28 SCP2 SETX SIGMAR1 SLC25A46 SMN1 SMN2 SOD1 SPG11 SPG7 SPTLC1 SQSTM1 TAF15 TARDBP TBK1 TFG TIA1 TMEM106B TREM2 TRPM7 TUBA4A TYROBP UBA1 UBQLN2 UNC13A VAPB VCP VPS13D VPS41 VRK1 ZNF335

Diseases (69) :ORPHA:2254 ORPHA:99802 OMIM:601162 OMIM:205100 ORPHA:300605 ORPHA:247604 OMIM:606353 OMIM:607225 ORPHA:803 OMIM:611895 OMIM:617839 OMIM:159950 ORPHA:2590 ORPHA:276244 OMIM:614298 OMIM:105550 ORPHA:275872 ORPHA:100070 OMIM:619141 ORPHA:65684 OMIM:615911 ORPHA:163681 OMIM:619132 OMIM:105400 OMIM:607641 OMIM:615515 OMIM:612577 OMIM:608030 OMIM:263570 OMIM:611890 OMIM:253310 OMIM:615426 ORPHA:52430 OMIM:604320 OMIM:617921 OMIM:600274 OMIM:606070 ORPHA:600 OMIM:617892 OMIM:613435 OMIM:614808 OMIM:611067 OMIM:215470 ORPHA:412066 ORPHA:157954 OMIM:613724 OMIM:602433 OMIM:614373 OMIM:253550 OMIM:253400 OMIM:271150 OMIM:602099 ORPHA:35689 OMIM:616437 OMIM:612069 OMIM:616439 OMIM:604484 OMIM:619133 OMIM:105500 OMIM:616208 OMIM:221770 ORPHA:1145 OMIM:301830 OMIM:300857 OMIM:608627 OMIM:613954 ORPHA:95434 OMIM:607596 ORPHA:329228

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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