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
..Progressive inspiratory stridor (HP:0005951)

Term ID:

5951

Name:

Progressive inspiratory stridor

Synonym:

Definition:

Comments:

Reference:

HP:0005951

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital laryngeal stridor (HP:0004886)

Neonatal inspiratory stridor (HP:0004875)

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:0005951	HP:0005951	Progressive inspiratory stridor	0	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood	.	51

Genes (1) :SLC52A3

Diseases (1) :OMIM:211500

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