Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Morphological central nervous system abnormality (HP:0002011)

Parent Node:
Abnormality of the spinal cord (HP:0002143)

..Starting node
..Long-tract signs (HP:0002423)

Term ID:

2423

Name:

Long-tract signs

Synonym:

Long tract signs

Definition:

Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions.

Comments:

Reference:

HP:0002423

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal spinal meningeal morphology (HP:0010303)

Abnormality of the dorsal column of the spinal cord (HP:0011397)

Abnormality of the spinocerebellar tracts (HP:0003133)

Atrophy/Degeneration involving the spinal cord (HP:0007344)

Cervicomedullary schisis (HP:0030325)

Hyperintensity of MRI T2 signal of the spinal cord (HP:0040272)

Myelitis (HP:0012486)

Myelopathy (HP:0002196)

Spinal arteriovenous malformation (HP:0002390)

Spinal cord compression (HP:0002176)

Spinal cord lesion (HP:0100561)

Spinal cord posterior columns myelin loss (HP:0008311)

Spinal cord tumor (HP:0010302)

Spinal dysraphism (HP:0010301)

Tethered cord (HP:0002144)

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:0002423	HP:0002423	Long-tract signs	0	APOE CL E G H	348	613	OMIM:104310	Alzheimer disease 2	.	39
HP:0002423	HP:0002423	Long-tract signs	0	APP CL E G H	351	620	OMIM:104300	Alzheimer disease	.	74
HP:0002423	HP:0002423	Long-tract signs	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0002423	HP:0002423	Long-tract signs	0	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive		2
HP:0002423	HP:0002423	Long-tract signs	0	HFE CL E G H	3077	4886	OMIM:104300	Alzheimer disease	.	38
HP:0002423	HP:0002423	Long-tract signs	0	MPO CL E G H	4353	7218	OMIM:104300	Alzheimer disease	.	11
HP:0002423	HP:0002423	Long-tract signs	0	NOS3 CL E G H	4846	7876	OMIM:104300	Alzheimer disease	.	8
HP:0002423	HP:0002423	Long-tract signs	0	PLAU CL E G H	5328	9052	OMIM:104300	Alzheimer disease	.	50
HP:0002423	HP:0002423	Long-tract signs	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset	.	72

Genes (9) :APOE APP CYP27A1 GTF2E2 HFE MPO NOS3 PLAU TNFRSF11A

Diseases (5) :OMIM:104310 OMIM:104300 ORPHA:909 OMIM:616943 OMIM:602080

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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