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:
Abnormal bronchus morphology (HP:0025426)

Parent Node:
Bronchitis (HP:0012387)

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

..Starting node
..Recurrent bronchitis (HP:0002837)

Term ID:

2837

Name:

Recurrent bronchitis

Synonym:

Bronchitis, recurrent

Definition:

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

Comments:

Reference:

HP:0002837

Genes and Diseases:

Child Nodes:

........

Recurrent bronchiolitis (HP:0100501)

Sister Nodes:

Chronic bronchitis (HP:0004469)

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:0002837	HP:0002837	Recurrent bronchitis	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0002837	HP:0002837	Recurrent bronchitis	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	38
HP:0002837	HP:0002837	Recurrent bronchitis	0	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0002837	HP:0002837	Recurrent bronchitis	0	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive	.	9
HP:0002837	HP:0002837	Recurrent bronchitis	0	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive	.	6
HP:0002837	HP:0002837	Recurrent bronchitis	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0002837	HP:0002837	Recurrent bronchitis	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0002837	HP:0002837	Recurrent bronchitis	0	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0002837	HP:0002837	Recurrent bronchitis	0	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13	.	116
HP:0002837	HP:0002837	Recurrent bronchitis	0	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0002837	HP:0002837	Recurrent bronchitis	0	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34		2
HP:0002837	HP:0002837	Recurrent bronchitis	0	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2		257
HP:0002837	HP:0002837	Recurrent bronchitis	0	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0002837	HP:0002837	Recurrent bronchitis	0	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33		9
HP:0002837	HP:0002837	Recurrent bronchitis	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0002837	HP:0002837	Recurrent bronchitis	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0002837	HP:0002837	Recurrent bronchitis	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	.	32
HP:0002837	HP:0002837	Recurrent bronchitis	0	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0002837	HP:0002837	Recurrent bronchitis	0	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0002837	HP:0002837	Recurrent bronchitis	0	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51		196
HP:0002837	HP:0002837	Recurrent bronchitis	0	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked	.	48
HP:0002837	HP:0002837	Recurrent bronchitis	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	4
HP:0002837	HP:0002837	Recurrent bronchitis	0	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0002837	HP:0002837	Recurrent bronchitis	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0002837	HP:0002837	Recurrent bronchitis	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0002837	HP:0002837	Recurrent bronchitis	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0002837	HP:0002837	Recurrent bronchitis	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	7
HP:0002837	HP:0002837	Recurrent bronchitis	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	11
HP:0002837	HP:0002837	Recurrent bronchitis	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0002837	HP:0002837	Recurrent bronchitis	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0002837	HP:0002837	Recurrent bronchitis	0	RPGR CL E G H	6103	10295	OMIM:300455	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS		200
HP:0002837	HP:0002837	Recurrent bronchitis	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0002837	HP:0002837	Recurrent bronchitis	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0002837	HP:0002837	Recurrent bronchitis	0	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I	.	5
HP:0002837	HP:0002837	Recurrent bronchitis	0	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I	.	17
HP:0002837	HP:0002837	Recurrent bronchitis	0	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I	.	3
HP:0002837	HP:0002837	Recurrent bronchitis	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0002837	HP:0002837	Recurrent bronchitis	0	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0002837	HP:0002837	Recurrent bronchitis	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	12
HP:0002837	HP:0002837	Recurrent bronchitis	0	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0002837	HP:0002837	Recurrent bronchitis	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0002837	HP:0100501	Recurrent bronchiolitis	1	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2	.	257
HP:0002837	HP:0100501	Recurrent bronchiolitis	1	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76

Genes (34) :ATM CD19 CD79A CD79B CD81 CR2 DNAAF1 DNAI1 DNAJB13 EGFR FCHO1 GAS8 GNPTAB ICOS IL10RB IL17RA IL2RG IRF2BP2 MAGT1 MGP MS4A1 NBN NFKB1 NFKB2 PRKCD RPGR SMARCA2 TAFAZZIN TAP1 TAP2 TAPBP TNFRSF13B TNFRSF13C TNFSF12

Diseases (24) :OMIM:208900 ORPHA:1572 OMIM:240500 OMIM:613501 OMIM:612692 OMIM:613193 OMIM:244400 OMIM:617091 OMIM:616069 OMIM:619164 OMIM:616726 OMIM:252500 OMIM:607594 OMIM:612567 OMIM:613953 OMIM:312863 OMIM:300853 OMIM:245150 OMIM:251260 ORPHA:293978 OMIM:300455 OMIM:619293 OMIM:302060 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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