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 seventh cranial nerve (HP:0010827)

Grandparent Node:
Cranial nerve paralysis (HP:0006824)

Grandparent Node:
Muscle weakness (HP:0001324)

Grandparent Node:
Weakness of facial musculature (HP:0030319)

Parent Node:
Facial palsy (HP:0010628)

..Starting node
..Bilateral facial palsy (HP:0430025)

Term ID:

430025

Name:

Bilateral facial palsy

Synonym:

Bilateral facial muscle paralysis; Bilateral facial muscle weakness; Bilateral facial paralysis; Paralysis of both sides of the face; Weakness of both sides of the face

Definition:

Two-sided or bilateral weakness of the muscles of facial expression and eye closure.

Comments:

Reference:

HP:0430025

Genes and Diseases:

Child Nodes:

Sister Nodes:

Facial diplegia (HP:0001349)

Frontalis muscle weakness (HP:0004661)

Unilateral facial palsy (HP:0012799)

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:0430025	HP:0430025	Bilateral facial palsy	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040283 - Occasional	759
HP:0430025	HP:0430025	Bilateral facial palsy	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129

Genes (2) :PLEC SYNE1

Diseases (2) :ORPHA:254361 ORPHA:319332

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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