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 bronchus morphology (HP:0025426)

Grandparent Node:
Bronchitis (HP:0012387)

Grandparent Node:
Recurrent upper respiratory tract infections (HP:0002788)

Parent Node:
Recurrent bronchitis (HP:0002837)

..Starting node
..Recurrent bronchiolitis (HP:0100501)

Term ID:

100501

Name:

Recurrent bronchiolitis

Synonym:

Definition:

An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis.

Comments:

Reference:

HP:0100501

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:0100501	HP:0100501	Recurrent bronchiolitis	0	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2	.	257
HP:0100501	HP:0100501	Recurrent bronchiolitis	0	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76

Genes (2) :EGFR FCHO1

Diseases (2) :OMIM:616069 OMIM:619164

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