Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Respiratory tract infection (HP:0011947)

Parent Node:
Recurrent acute respiratory tract infection (HP:0011948)

..Starting node
..Bronchiolitis (HP:0011950)

Term ID:

11950

Name:

Bronchiolitis

Synonym:

Definition:

Inflammation of the bronchioles.

Comments:

Reference:

HP:0011950

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acute infectious pneumonia (HP:0011949)

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:0011950	HP:0011950	Bronchiolitis	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0011950	HP:0011950	Bronchiolitis	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0011950	HP:0011950	Bronchiolitis	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0011950	HP:0011950	Bronchiolitis	0	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	.	21
HP:0011950	HP:0011950	Bronchiolitis	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040284 - Very rare	759
HP:0011950	HP:0011950	Bronchiolitis	0	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16	.	61
HP:0011950	HP:0011950	Bronchiolitis	0	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0011950	HP:0011950	Bronchiolitis	0	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I	.	5
HP:0011950	HP:0011950	Bronchiolitis	0	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I	.	17
HP:0011950	HP:0011950	Bronchiolitis	0	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I	.	3

Genes (10) :ALDH18A1 ELN FBLN5 PLCG2 PLEC SDCCAG8 SLC35C1 TAP1 TAP2 TAPBP

Diseases (6) :ORPHA:90348 OMIM:614878 ORPHA:254361 OMIM:615993 OMIM:266265 OMIM:604571

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

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