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:
Abnormal nasopharynx morphology (HP:0001739)

Grandparent Node:
Recurrent respiratory infections (HP:0002205)

Parent Node:
Bronchitis (HP:0012387)

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

..Starting node
..Chronic bronchitis (HP:0004469)

Term ID:

4469

Name:

Chronic bronchitis

Synonym:

Definition:

Chronic inflammation of the bronchi.

Comments:

Reference:

HP:0004469

Genes and Diseases:

Child Nodes:

Sister Nodes:

Recurrent bronchitis (HP:0002837)

Recurrent pharyngitis (HP:0100776)

Recurrent sinusitis (HP:0011108)

Recurrent upper and lower respiratory tract infections (HP:0200117)

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:0004469	HP:0004469	Chronic bronchitis	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0004469	HP:0004469	Chronic bronchitis	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0004469	HP:0004469	Chronic bronchitis	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0004469	HP:0004469	Chronic bronchitis	0	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0004469	HP:0004469	Chronic bronchitis	0	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27	.	23
HP:0004469	HP:0004469	Chronic bronchitis	0	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0004469	HP:0004469	Chronic bronchitis	0	CFTR CL E G H	1080	1884	OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1	.	1371
HP:0004469	HP:0004469	Chronic bronchitis	0	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19	.
HP:0004469	HP:0004469	Chronic bronchitis	0	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	.	62
HP:0004469	HP:0004469	Chronic bronchitis	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0004469	HP:0004469	Chronic bronchitis	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0004469	HP:0004469	Chronic bronchitis	0	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5		21
HP:0004469	HP:0004469	Chronic bronchitis	0	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0004469	HP:0004469	Chronic bronchitis	0	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	.
HP:0004469	HP:0004469	Chronic bronchitis	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0004469	HP:0004469	Chronic bronchitis	0	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11		58
HP:0004469	HP:0004469	Chronic bronchitis	0	SCNN1A CL E G H	6337	10599	OMIM:613021	Bronchiectasis with or without elevated sweat chloride 2	.	67
HP:0004469	HP:0004469	Chronic bronchitis	0	SCNN1B CL E G H	6338	10600	OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1	.	61
HP:0004469	HP:0004469	Chronic bronchitis	0	SCNN1G CL E G H	6340	10602	OMIM:613071	Bronchiectasis with or without elevated sweat chloride 3	.	57
HP:0004469	HP:0004469	Chronic bronchitis	0	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency		131
HP:0004469	HP:0004469	Chronic bronchitis	0	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28	.	45
HP:0004469	HP:0004469	Chronic bronchitis	0	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2	.	9
HP:0004469	HP:0004469	Chronic bronchitis	0	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22	.	20

Genes (23) :ALMS1 CARMIL2 CCDC39 CCDC40 CCDC65 CFAP298 CFTR DNAAF11 DNAAF5 DNMT3B GUSB HYDIN ODAD2 ODAD3 RAC2 RSPH4A SCNN1A SCNN1B SCNN1G SERPINA1 SPAG1 ZBTB24 ZMYND10

Diseases (22) :ORPHA:64 OMIM:618131 OMIM:613807 OMIM:613808 OMIM:615504 OMIM:615500 OMIM:211400 OMIM:614935 OMIM:614874 OMIM:242860 OMIM:253220 OMIM:608647 OMIM:615451 OMIM:616037 OMIM:618986 OMIM:612649 OMIM:613021 OMIM:613071 OMIM:613490 OMIM:615505 OMIM:614069 OMIM:615444

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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