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:
Stridor (HP:0010307)

Parent Node:
Inspiratory stridor (HP:0005348)

..Starting node
..Congenital laryngeal stridor (HP:0004886)

Term ID:

4886

Name:

Congenital laryngeal stridor

Synonym:

Definition:

Comments:

Reference:

HP:0004886

Genes and Diseases:

Child Nodes:

Sister Nodes:

Neonatal inspiratory stridor (HP:0004875)

Progressive inspiratory stridor (HP:0005951)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004886	HP:0004886	Congenital laryngeal stridor	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1	1
HP:0004886	HP:0004886	Congenital laryngeal stridor	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1	38
HP:0004886	HP:0004886	Congenital laryngeal stridor	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1	4
HP:0004886	HP:0004886	Congenital laryngeal stridor	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0004886	HP:0004886	Congenital laryngeal stridor	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease	60
HP:0004886	HP:0004886	Congenital laryngeal stridor	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1	14
HP:0004886	HP:0004886	Congenital laryngeal stridor	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1	32

Genes (7) :AGTPBP1 EXOSC3 EXOSC8 EXOSC9 PLP1 SLC25A46 VRK1

Diseases (2) :ORPHA:2254 OMIM:312080

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