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:
Abnormal motor neuron morphology (HP:0002450)

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

Parent Node:
Abnormal anterior horn cell morphology (HP:0006802)

Parent Node:
Motor neuron atrophy (HP:0007373)

..Starting node
..Degeneration of anterior horn cells (HP:0002398)

Term ID:

2398

Name:

Degeneration of anterior horn cells

Synonym:

Anterior horn cell loss; Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord; Degeneration of spinal cord anterior horn cells; Loss of spinal cord anterior horn cells; Progressive loss of anterior horn cells; Spinal cord anterior horn cell degeneration

Definition:

Comments:

Reference:

HP:0002398

Genes and Diseases:

Child Nodes:

Sister Nodes:

Amyotrophic lateral sclerosis (HP:0007354)

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:0002398	HP:0002398	Degeneration of anterior horn cells	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0002398	HP:0002398	Degeneration of anterior horn cells	0	ANXA11 CL E G H	311	535	OMIM:617839	Amyotrophic lateral sclerosis 23
HP:0002398	HP:0002398	Degeneration of anterior horn cells	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.	78
HP:0002398	HP:0002398	Degeneration of anterior horn cells	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent	14
HP:0002398	HP:0002398	Degeneration of anterior horn cells	0	CEP126 CL E G H	57562	29264	ORPHA:65684	Monomelic amyotrophy	HP:0040282 - Frequent
HP:0002398	HP:0002398	Degeneration of anterior horn cells	0	CPLANE1 CL E G H	65250	25801	ORPHA:65684	Monomelic amyotrophy	HP:0040282 - Frequent
HP:0002398	HP:0002398	Degeneration of anterior horn cells	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1	.	86
HP:0002398	HP:0002398	Degeneration of anterior horn cells	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0002398	HP:0002398	Degeneration of anterior horn cells	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1		4
HP:0002398	HP:0002398	Degeneration of anterior horn cells	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0002398	HP:0002398	Degeneration of anterior horn cells	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.	209
HP:0002398	HP:0002398	Degeneration of anterior horn cells	0	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1	.	24
HP:0002398	HP:0002398	Degeneration of anterior horn cells	0	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1	.	25
HP:0002398	HP:0002398	Degeneration of anterior horn cells	0	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile	.	162
HP:0002398	HP:0002398	Degeneration of anterior horn cells	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1		14
HP:0002398	HP:0002398	Degeneration of anterior horn cells	0	SMN1 CL E G H	6606	11117	OMIM:253550	Spinal muscular atrophy, type II	.	22
HP:0002398	HP:0002398	Degeneration of anterior horn cells	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III	.	22
HP:0002398	HP:0002398	Degeneration of anterior horn cells	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV	.	22
HP:0002398	HP:0002398	Degeneration of anterior horn cells	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III	.	1
HP:0002398	HP:0002398	Degeneration of anterior horn cells	0	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1	.	53
HP:0002398	HP:0002398	Degeneration of anterior horn cells	0	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type	.	18
HP:0002398	HP:0002398	Degeneration of anterior horn cells	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040281 - Very frequent	35
HP:0002398	HP:0002398	Degeneration of anterior horn cells	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.	35
HP:0002398	HP:0002398	Degeneration of anterior horn cells	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1		32
HP:0002398	HP:0002398	Degeneration of anterior horn cells	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.	32

Genes (21) :AGTPBP1 ANXA11 ASAH1 ATXN3 CEP126 CPLANE1 DCTN1 EXOSC3 EXOSC8 EXOSC9 IGHMBP2 NEFH PRPH SETX SLC25A46 SMN1 SMN2 SOD1 TFG UBA1 VRK1

Diseases (15) :ORPHA:2254 OMIM:617839 OMIM:159950 ORPHA:276244 ORPHA:65684 OMIM:105400 OMIM:604320 OMIM:602433 OMIM:253550 OMIM:253400 OMIM:271150 OMIM:604484 ORPHA:1145 OMIM:301830 OMIM:607596

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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