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:
Abnormality of the voice (HP:0001608)

Parent Node:
Vocal cord dysfunction (HP:0031801)

..Starting node
..Imperfect vocal cord adduction (HP:0005934)

Term ID:

5934

Name:

Imperfect vocal cord adduction

Synonym:

Definition:

Comments:

Reference:

HP:0005934

Genes and Diseases:

Child Nodes:

Sister Nodes:

Vocal cord paralysis (HP:0001605)

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:0005934	HP:0005934	Imperfect vocal cord adduction	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent	80

Genes (1) :MATR3

Diseases (1) :ORPHA:600

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