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:
Abnormal larynx morphology (HP:0025423)

Parent Node:
Abnormal vocal cord morphology (HP:0008777)

..Starting node
..Bowing of the vocal cords (HP:0008756)

Term ID:

8756

Name:

Bowing of the vocal cords

Synonym:

Definition:

Bowing (abnormal curvature) of the vocal folds.

Comments:

Reference:

HP:0008756

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0008756	HP:0008756	Bowing of the vocal cords	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0008756	HP:0008756	Bowing of the vocal cords	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1	.
HP:0008756	HP:0008756	Bowing of the vocal cords	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.	80
HP:0008756	HP:0008756	Bowing of the vocal cords	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent	80
HP:0008756	HP:0008756	Bowing of the vocal cords	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent

Genes (4) :GIPC1 LRP12 MATR3 NOTCH2NLC

Diseases (4) :ORPHA:98897 OMIM:164310 OMIM:606070 ORPHA:600

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