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 lung morphology (HP:0002088)

Parent Node:
Respiratory tract infection (HP:0011947)

..Starting node
..Bronchitis (HP:0012387)

Term ID:

12387

Name:

Bronchitis

Synonym:

Definition:

Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi.

Comments:

Reference:

HP:0012387

Genes and Diseases:

Child Nodes:

........

Recurrent bronchitis (HP:0002837)

................... HP:0100501 Recurrent bronchiolitis

........

Chronic bronchitis (HP:0004469)

........

Acute bronchitis (HP:0012388)

Sister Nodes:

Pneumonia (HP:0002090)

Recurrent acute respiratory tract infection (HP:0011948)

Recurrent respiratory infections (HP:0002205)

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:0012387	HP:0012387	Bronchitis	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0012387	HP:0012387	Bronchitis	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0012387	HP:0012387	Bronchitis	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0012387	HP:0012387	Bronchitis	0	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	HP:0040283 - Occasional	572
HP:0012387	HP:0012387	Bronchitis	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0012387	HP:0012387	Bronchitis	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0012387	HP:0012387	Bronchitis	0	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0012387	HP:0012387	Bronchitis	0	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27		23
HP:0012387	HP:0012387	Bronchitis	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency		38
HP:0012387	HP:0012387	Bronchitis	0	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0012387	HP:0012387	Bronchitis	0	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive		9
HP:0012387	HP:0012387	Bronchitis	0	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0012387	HP:0012387	Bronchitis	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency		1
HP:0012387	HP:0012387	Bronchitis	0	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0012387	HP:0012387	Bronchitis	0	CFTR CL E G H	1080	1884	OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1		1371
HP:0012387	HP:0012387	Bronchitis	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency		10
HP:0012387	HP:0012387	Bronchitis	0	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0012387	HP:0012387	Bronchitis	0	CRLF1 CL E G H	9244	2364	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent	24
HP:0012387	HP:0012387	Bronchitis	0	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13		116
HP:0012387	HP:0012387	Bronchitis	0	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0012387	HP:0012387	Bronchitis	0	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18		62
HP:0012387	HP:0012387	Bronchitis	0	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0012387	HP:0012387	Bronchitis	0	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34		2
HP:0012387	HP:0012387	Bronchitis	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0012387	HP:0012387	Bronchitis	0	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2		257
HP:0012387	HP:0012387	Bronchitis	0	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0012387	HP:0012387	Bronchitis	0	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33		9
HP:0012387	HP:0012387	Bronchitis	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0012387	HP:0012387	Bronchitis	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0012387	HP:0012387	Bronchitis	0	HLA-DQA1 CL E G H	3117	4942	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent
HP:0012387	HP:0012387	Bronchitis	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent
HP:0012387	HP:0012387	Bronchitis	0	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5		21
HP:0012387	HP:0012387	Bronchitis	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency		32
HP:0012387	HP:0012387	Bronchitis	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0012387	HP:0012387	Bronchitis	0	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0012387	HP:0012387	Bronchitis	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0012387	HP:0012387	Bronchitis	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0012387	HP:0012387	Bronchitis	0	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0012387	HP:0012387	Bronchitis	0	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51		196
HP:0012387	HP:0012387	Bronchitis	0	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0012387	HP:0012387	Bronchitis	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency		4
HP:0012387	HP:0012387	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:0012387	HP:0012387	Bronchitis	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0012387	HP:0012387	Bronchitis	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency		1
HP:0012387	HP:0012387	Bronchitis	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0012387	HP:0012387	Bronchitis	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency		7
HP:0012387	HP:0012387	Bronchitis	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency		11
HP:0012387	HP:0012387	Bronchitis	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0012387	HP:0012387	Bronchitis	0	NOS1 CL E G H	4842	7872	ORPHA:930	Idiopathic achalasia	HP:0040282 - Frequent	2
HP:0012387	HP:0012387	Bronchitis	0	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0012387	HP:0012387	Bronchitis	0	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0012387	HP:0012387	Bronchitis	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency		10
HP:0012387	HP:0012387	Bronchitis	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0012387	HP:0012387	Bronchitis	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040282 - Frequent	7
HP:0012387	HP:0012387	Bronchitis	0	RPGR CL E G H	6103	10295	OMIM:300455	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS		200
HP:0012387	HP:0012387	Bronchitis	0	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11		58
HP:0012387	HP:0012387	Bronchitis	0	SCNN1A CL E G H	6337	10599	OMIM:613021	Bronchiectasis with or without elevated sweat chloride 2		67
HP:0012387	HP:0012387	Bronchitis	0	SCNN1B CL E G H	6338	10600	OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1		61
HP:0012387	HP:0012387	Bronchitis	0	SCNN1G CL E G H	6340	10602	OMIM:613071	Bronchiectasis with or without elevated sweat chloride 3		57
HP:0012387	HP:0012387	Bronchitis	0	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency		131
HP:0012387	HP:0012387	Bronchitis	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040284 - Very rare	7
HP:0012387	HP:0012387	Bronchitis	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0012387	HP:0012387	Bronchitis	0	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28		45
HP:0012387	HP:0012387	Bronchitis	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0012387	HP:0012387	Bronchitis	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0012387	HP:0012387	Bronchitis	0	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I		5
HP:0012387	HP:0012387	Bronchitis	0	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I		17
HP:0012387	HP:0012387	Bronchitis	0	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I		3
HP:0012387	HP:0012387	Bronchitis	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency		32
HP:0012387	HP:0012387	Bronchitis	0	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0012387	HP:0012387	Bronchitis	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency		12
HP:0012387	HP:0012387	Bronchitis	0	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0012387	HP:0012387	Bronchitis	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency		1
HP:0012387	HP:0012387	Bronchitis	0	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2		9
HP:0012387	HP:0012387	Bronchitis	0	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0012387	HP:0012388	Acute bronchitis	1	CL E G H
HP:0012387	HP:0004469	Chronic bronchitis	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0012387	HP:0002837	Recurrent bronchitis	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0012387	HP:0004469	Chronic bronchitis	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0012387	HP:0004469	Chronic bronchitis	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0012387	HP:0004469	Chronic bronchitis	1	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0012387	HP:0004469	Chronic bronchitis	1	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27	.	23
HP:0012387	HP:0002837	Recurrent bronchitis	1	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	38
HP:0012387	HP:0002837	Recurrent bronchitis	1	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0012387	HP:0002837	Recurrent bronchitis	1	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive	.	9
HP:0012387	HP:0002837	Recurrent bronchitis	1	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive	.	6
HP:0012387	HP:0002837	Recurrent bronchitis	1	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0012387	HP:0004469	Chronic bronchitis	1	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0012387	HP:0004469	Chronic bronchitis	1	CFTR CL E G H	1080	1884	OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1	.	1371
HP:0012387	HP:0002837	Recurrent bronchitis	1	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0012387	HP:0002837	Recurrent bronchitis	1	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0012387	HP:0002837	Recurrent bronchitis	1	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13	.	116
HP:0012387	HP:0004469	Chronic bronchitis	1	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19	.
HP:0012387	HP:0004469	Chronic bronchitis	1	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	.	62
HP:0012387	HP:0002837	Recurrent bronchitis	1	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0012387	HP:0002837	Recurrent bronchitis	1	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34		2
HP:0012387	HP:0004469	Chronic bronchitis	1	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0012387	HP:0002837	Recurrent bronchitis	1	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2		257
HP:0012387	HP:0002837	Recurrent bronchitis	1	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0012387	HP:0002837	Recurrent bronchitis	1	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33		9
HP:0012387	HP:0002837	Recurrent bronchitis	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0012387	HP:0004469	Chronic bronchitis	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0012387	HP:0004469	Chronic bronchitis	1	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5		21
HP:0012387	HP:0002837	Recurrent bronchitis	1	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0012387	HP:0002837	Recurrent bronchitis	1	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	.	32
HP:0012387	HP:0002837	Recurrent bronchitis	1	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0012387	HP:0002837	Recurrent bronchitis	1	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0012387	HP:0002837	Recurrent bronchitis	1	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51		196
HP:0012387	HP:0002837	Recurrent bronchitis	1	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked	.	48
HP:0012387	HP:0002837	Recurrent bronchitis	1	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	4
HP:0012387	HP:0002837	Recurrent bronchitis	1	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0012387	HP:0002837	Recurrent bronchitis	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0012387	HP:0002837	Recurrent bronchitis	1	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0012387	HP:0002837	Recurrent bronchitis	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0012387	HP:0002837	Recurrent bronchitis	1	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	7
HP:0012387	HP:0002837	Recurrent bronchitis	1	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	11
HP:0012387	HP:0002837	Recurrent bronchitis	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0012387	HP:0004469	Chronic bronchitis	1	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0012387	HP:0004469	Chronic bronchitis	1	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	.
HP:0012387	HP:0002837	Recurrent bronchitis	1	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0012387	HP:0004469	Chronic bronchitis	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0012387	HP:0002837	Recurrent bronchitis	1	RPGR CL E G H	6103	10295	OMIM:300455	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS		200
HP:0012387	HP:0004469	Chronic bronchitis	1	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11		58
HP:0012387	HP:0004469	Chronic bronchitis	1	SCNN1A CL E G H	6337	10599	OMIM:613021	Bronchiectasis with or without elevated sweat chloride 2	.	67
HP:0012387	HP:0004469	Chronic bronchitis	1	SCNN1B CL E G H	6338	10600	OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1	.	61
HP:0012387	HP:0004469	Chronic bronchitis	1	SCNN1G CL E G H	6340	10602	OMIM:613071	Bronchiectasis with or without elevated sweat chloride 3	.	57
HP:0012387	HP:0004469	Chronic bronchitis	1	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency		131
HP:0012387	HP:0002837	Recurrent bronchitis	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0012387	HP:0004469	Chronic bronchitis	1	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28	.	45
HP:0012387	HP:0002837	Recurrent bronchitis	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0012387	HP:0002837	Recurrent bronchitis	1	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I	.	5
HP:0012387	HP:0002837	Recurrent bronchitis	1	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I	.	17
HP:0012387	HP:0002837	Recurrent bronchitis	1	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I	.	3
HP:0012387	HP:0002837	Recurrent bronchitis	1	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0012387	HP:0002837	Recurrent bronchitis	1	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0012387	HP:0002837	Recurrent bronchitis	1	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	12
HP:0012387	HP:0002837	Recurrent bronchitis	1	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0012387	HP:0002837	Recurrent bronchitis	1	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0012387	HP:0004469	Chronic bronchitis	1	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2	.	9
HP:0012387	HP:0004469	Chronic bronchitis	1	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22	.	20
HP:0012387	HP:0100501	Recurrent bronchiolitis	2	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2	.	257
HP:0012387	HP:0100501	Recurrent bronchiolitis	2	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76

Genes (68) :ALMS1 ATM BLM CACNA1C CARMIL2 CCDC39 CCDC40 CCDC65 CD19 CD79A CD79B CD81 CFAP298 CFTR CR2 CRLF1 DNAAF1 DNAAF11 DNAAF5 DNAI1 DNAJB13 DNMT3B EGFR FCHO1 GAS8 GNPTAB GUSB HLA-DQA1 HLA-DQB1 HYDIN ICOS IGHG2 IGKC IL10RB IL17RA IL2RG IRF2BP2 MAGT1 MGP MS4A1 NBN NFKB1 NFKB2 NOS1 ODAD2 ODAD3 PRKCD RAC2 RNF168 RPGR RSPH4A SCNN1A SCNN1B SCNN1G SERPINA1 SLC34A2 SMARCA2 SPAG1 SYK TAFAZZIN TAP1 TAP2 TAPBP TNFRSF13B TNFRSF13C TNFSF12 ZBTB24 ZMYND10

Diseases (53) :ORPHA:64 OMIM:208900 ORPHA:125 OMIM:601005 OMIM:618131 OMIM:613807 OMIM:613808 OMIM:615504 ORPHA:1572 OMIM:240500 OMIM:613501 OMIM:612692 OMIM:615500 OMIM:211400 ORPHA:930 OMIM:613193 OMIM:614935 OMIM:614874 OMIM:244400 OMIM:617091 OMIM:242860 OMIM:616069 OMIM:619164 OMIM:616726 OMIM:252500 OMIM:253220 OMIM:608647 OMIM:607594 ORPHA:183675 OMIM:612567 OMIM:613953 OMIM:312863 OMIM:300853 OMIM:245150 OMIM:251260 ORPHA:293978 OMIM:615451 OMIM:616037 OMIM:618986 ORPHA:420741 OMIM:300455 OMIM:612649 OMIM:613021 OMIM:613071 OMIM:613490 ORPHA:60025 OMIM:619293 OMIM:615505 OMIM:619381 OMIM:302060 OMIM:604571 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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