Human Phenotype Ontology

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:
Hypertonia (HP:0001276)

Parent Node:
Spasticity (HP:0001257)

..Starting node
..Spasticity of pharyngeal muscles (HP:0002501)

Term ID:

2501

Name:

Spasticity of pharyngeal muscles

Synonym:

Definition:

Comments:

Reference:

HP:0002501

Genes and Diseases:

Child Nodes:

Sister Nodes:

Clasp-knife sign (HP:0031866)

Lower limb spasticity (HP:0002061)

Opisthotonus (HP:0002179)

Progressive spasticity (HP:0002191)

Spastic diplegia (HP:0001264)

Spastic dysarthria (HP:0002464)

Spastic gait (HP:0002064)

Spastic hemiparesis (HP:0011099)

Spastic tetraparesis (HP:0001285)

Spastic tetraplegia (HP:0002510)

Spasticity of facial muscles (HP:0002491)

Upper limb spasticity (HP:0006986)

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:0002501	HP:0002501	Spasticity of pharyngeal muscles	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.	114
HP:0002501	HP:0002501	Spasticity of pharyngeal muscles	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile	.	114

Genes (1) :ALS2

Diseases (2) :OMIM:205100 OMIM:606353

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.