Human Phenotype Ontology

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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:
Paralysis (HP:0003470)

Grandparent Node:
Vocal cord dysfunction (HP:0031801)

Parent Node:
Vocal cord paralysis (HP:0001605)

..Starting node
..Unilateral vocal cord paralysis (HP:0008757)

Term ID:

8757

Name:

Unilateral vocal cord paralysis

Synonym:

Unilateral paralysis of the vocal cord

Definition:

A loss of the ability to move the vocal fold on one side.

Comments:

Reference:

HP:0008757

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bilateral vocal cord paralysis (HP:0012820)

Vocal cord paresis (HP:0001604)

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:0008757	HP:0008757	Unilateral vocal cord paralysis	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.	2

Genes (1) :POLA1

Diseases (1) :OMIM:301030

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