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 neuron morphology (HP:0012757)

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

..Starting node
..Abnormal upper motor neuron morphology (HP:0002127)

Term ID:

2127

Name:

Abnormal upper motor neuron morphology

Synonym:

Abnormal shape of upper motor neuron

Definition:

Any structural anomaly that affects the upper motor neuron.

Comments:

Reference:

HP:0002127

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal anterior horn cell morphology (HP:0006802)

Abnormal lower motor neuron morphology (HP:0002366)

Motor neuron atrophy (HP:0007373)

Paucity of anterior horn motor neurons (HP:0007277)

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:0002127	HP:0002127	Abnormal upper motor neuron morphology	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.	89
HP:0002127	HP:0002127	Abnormal upper motor neuron morphology	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.	114
HP:0002127	HP:0002127	Abnormal upper motor neuron morphology	0	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040281 - Very frequent	114
HP:0002127	HP:0002127	Abnormal upper motor neuron morphology	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile	.	114
HP:0002127	HP:0002127	Abnormal upper motor neuron morphology	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent	56
HP:0002127	HP:0002127	Abnormal upper motor neuron morphology	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent	11
HP:0002127	HP:0002127	Abnormal upper motor neuron morphology	0	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040281 - Very frequent	18
HP:0002127	HP:0002127	Abnormal upper motor neuron morphology	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent	105
HP:0002127	HP:0002127	Abnormal upper motor neuron morphology	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form	.	86
HP:0002127	HP:0002127	Abnormal upper motor neuron morphology	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.	80
HP:0002127	HP:0002127	Abnormal upper motor neuron morphology	0	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome	HP:0040283 - Occasional	103
HP:0002127	HP:0002127	Abnormal upper motor neuron morphology	0	SIGMAR1 CL E G H	10280	8157	OMIM:614373	Amyotrophic lateral sclerosis 16, juvenile	.	6
HP:0002127	HP:0002127	Abnormal upper motor neuron morphology	0	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis	HP:0040281 - Very frequent	171
HP:0002127	HP:0002127	Abnormal upper motor neuron morphology	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent	62
HP:0002127	HP:0002127	Abnormal upper motor neuron morphology	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent	65
HP:0002127	HP:0002127	Abnormal upper motor neuron morphology	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent	20
HP:0002127	HP:0002127	Abnormal upper motor neuron morphology	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.	22
HP:0002127	HP:0002127	Abnormal upper motor neuron morphology	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040281 - Very frequent	63

Genes (16) :ALDH18A1 ALS2 C9ORF72 CHCHD10 ERLIN2 FUS GBE1 MATR3 PNPLA6 SIGMAR1 SPG7 SQSTM1 TARDBP TBK1 TYROBP VCP

Diseases (11) :OMIM:601162 OMIM:205100 ORPHA:247604 OMIM:606353 ORPHA:275872 OMIM:263570 OMIM:606070 OMIM:215470 OMIM:614373 ORPHA:35689 OMIM:221770

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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