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 tracheobronchial morphology (HP:0005607)

Parent Node:
Abnormal bronchus morphology (HP:0025426)

..Starting node
..Bronchiectasis (HP:0002110)

Term ID:

2110

Name:

Bronchiectasis

Synonym:

Permanent enlargement of the airways of the lungs

Definition:

Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.

Comments:

Reference:

HP:0002110

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bronchial atresia (HP:0030715)

Bronchial cartilage hypoplasia (HP:0006539)

Bronchial neoplasm (HP:0030077)

Bronchodysplasia (HP:0006533)

Bronchomalacia (HP:0002780)

Bronchomegaly (HP:0010777)

Recurrent bronchitis (HP:0002837)

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:0002110	HP:0002110	Bronchiectasis	0	ABCA3 CL E G H	21	33	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	147
HP:0002110	HP:0002110	Bronchiectasis	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0002110	HP:0002110	Bronchiectasis	0	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62	.
HP:0002110	HP:0002110	Bronchiectasis	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0002110	HP:0002110	Bronchiectasis	0	ATP11A CL E G H	23250	13552	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0002110	HP:0002110	Bronchiectasis	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43	.	8
HP:0002110	HP:0002110	Bronchiectasis	0	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0002110	HP:0002110	Bronchiectasis	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0002110	HP:0002110	Bronchiectasis	0	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	4
HP:0002110	HP:0002110	Bronchiectasis	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0002110	HP:0002110	Bronchiectasis	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0002110	HP:0002110	Bronchiectasis	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0002110	HP:0002110	Bronchiectasis	0	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0002110	HP:0002110	Bronchiectasis	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0002110	HP:0002110	Bronchiectasis	0	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17	.	36
HP:0002110	HP:0002110	Bronchiectasis	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	36
HP:0002110	HP:0002110	Bronchiectasis	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0002110	HP:0002110	Bronchiectasis	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	126
HP:0002110	HP:0002110	Bronchiectasis	0	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0002110	HP:0002110	Bronchiectasis	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	182
HP:0002110	HP:0002110	Bronchiectasis	0	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27	.	23
HP:0002110	HP:0002110	Bronchiectasis	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	23
HP:0002110	HP:0002110	Bronchiectasis	0	CCNO CL E G H	10309	18576	OMIM:615872	Ciliary dyskinesia, primary, 29	.	23
HP:0002110	HP:0002110	Bronchiectasis	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	23
HP:0002110	HP:0002110	Bronchiectasis	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	38
HP:0002110	HP:0002110	Bronchiectasis	0	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2	.	38
HP:0002110	HP:0002110	Bronchiectasis	0	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	9
HP:0002110	HP:0002110	Bronchiectasis	0	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	6
HP:0002110	HP:0002110	Bronchiectasis	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	1
HP:0002110	HP:0002110	Bronchiectasis	0	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial	.	4
HP:0002110	HP:0002110	Bronchiectasis	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002110	HP:0002110	Bronchiectasis	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0002110	HP:0002110	Bronchiectasis	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002110	HP:0002110	Bronchiectasis	0	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0002110	HP:0002110	Bronchiectasis	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002110	HP:0002110	Bronchiectasis	0	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38	.
HP:0002110	HP:0002110	Bronchiectasis	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002110	HP:0002110	Bronchiectasis	0	CFTR CL E G H	1080	1884	OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1	.	1371
HP:0002110	HP:0002110	Bronchiectasis	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0002110	HP:0002110	Bronchiectasis	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0002110	HP:0002110	Bronchiectasis	0	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis	HP:0040280 - Obligate	1371
HP:0002110	HP:0002110	Bronchiectasis	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002110	HP:0002110	Bronchiectasis	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	10
HP:0002110	HP:0002110	Bronchiectasis	0	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2	.	10
HP:0002110	HP:0002110	Bronchiectasis	0	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0002110	HP:0002110	Bronchiectasis	0	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0002110	HP:0002110	Bronchiectasis	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040283 - Occasional	9
HP:0002110	HP:0002110	Bronchiectasis	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002110	HP:0002110	Bronchiectasis	0	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13	.	116
HP:0002110	HP:0002110	Bronchiectasis	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	116
HP:0002110	HP:0002110	Bronchiectasis	0	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19	.
HP:0002110	HP:0002110	Bronchiectasis	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002110	HP:0002110	Bronchiectasis	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	78
HP:0002110	HP:0002110	Bronchiectasis	0	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2	.	63
HP:0002110	HP:0002110	Bronchiectasis	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	63
HP:0002110	HP:0002110	Bronchiectasis	0	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25	.	27
HP:0002110	HP:0002110	Bronchiectasis	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	27
HP:0002110	HP:0002110	Bronchiectasis	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	62
HP:0002110	HP:0002110	Bronchiectasis	0	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked	.
HP:0002110	HP:0002110	Bronchiectasis	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002110	HP:0002110	Bronchiectasis	0	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37	.	21
HP:0002110	HP:0002110	Bronchiectasis	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	21
HP:0002110	HP:0002110	Bronchiectasis	0	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0002110	HP:0002110	Bronchiectasis	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	542
HP:0002110	HP:0002110	Bronchiectasis	0	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3		527
HP:0002110	HP:0002110	Bronchiectasis	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	527
HP:0002110	HP:0002110	Bronchiectasis	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	18
HP:0002110	HP:0002110	Bronchiectasis	0	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1	.	73
HP:0002110	HP:0002110	Bronchiectasis	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	73
HP:0002110	HP:0002110	Bronchiectasis	0	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0002110	HP:0002110	Bronchiectasis	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	104
HP:0002110	HP:0002110	Bronchiectasis	0	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34		2
HP:0002110	HP:0002110	Bronchiectasis	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	2
HP:0002110	HP:0002110	Bronchiectasis	0	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16		167
HP:0002110	HP:0002110	Bronchiectasis	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	167
HP:0002110	HP:0002110	Bronchiectasis	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0002110	HP:0002110	Bronchiectasis	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0002110	HP:0002110	Bronchiectasis	0	DPP9 CL E G H	91039	18648	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0002110	HP:0002110	Bronchiectasis	0	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21		44
HP:0002110	HP:0002110	Bronchiectasis	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	44
HP:0002110	HP:0002110	Bronchiectasis	0	DSP CL E G H	1832	3052	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	747
HP:0002110	HP:0002110	Bronchiectasis	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0002110	HP:0002110	Bronchiectasis	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0002110	HP:0002110	Bronchiectasis	0	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1		172
HP:0002110	HP:0002110	Bronchiectasis	0	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0002110	HP:0002110	Bronchiectasis	0	FAM13A CL E G H	10144	19367	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0002110	HP:0002110	Bronchiectasis	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0002110	HP:0002110	Bronchiectasis	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0002110	HP:0002110	Bronchiectasis	0	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0002110	HP:0002110	Bronchiectasis	0	FOXJ1 CL E G H	2302	3816	OMIM:618699	CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0002110	HP:0002110	Bronchiectasis	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002110	HP:0002110	Bronchiectasis	0	GAS2L2 CL E G H	246176	24846	OMIM:618449	Ciliary dyskinesia, primary, 41		1
HP:0002110	HP:0002110	Bronchiectasis	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	1
HP:0002110	HP:0002110	Bronchiectasis	0	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33		9
HP:0002110	HP:0002110	Bronchiectasis	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	9
HP:0002110	HP:0002110	Bronchiectasis	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0002110	HP:0002110	Bronchiectasis	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0002110	HP:0002110	Bronchiectasis	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0002110	HP:0002110	Bronchiectasis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0002110	HP:0002110	Bronchiectasis	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0002110	HP:0002110	Bronchiectasis	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0002110	HP:0002110	Bronchiectasis	0	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5	.	21
HP:0002110	HP:0002110	Bronchiectasis	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	21
HP:0002110	HP:0002110	Bronchiectasis	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	32
HP:0002110	HP:0002110	Bronchiectasis	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	.	32
HP:0002110	HP:0002110	Bronchiectasis	0	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2	.	32
HP:0002110	HP:0002110	Bronchiectasis	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0002110	HP:0002110	Bronchiectasis	0	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0002110	HP:0002110	Bronchiectasis	0	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	7
HP:0002110	HP:0002110	Bronchiectasis	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0002110	HP:0002110	Bronchiectasis	0	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	3
HP:0002110	HP:0002110	Bronchiectasis	0	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0002110	HP:0002110	Bronchiectasis	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0002110	HP:0002110	Bronchiectasis	0	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0002110	HP:0002110	Bronchiectasis	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	4
HP:0002110	HP:0002110	Bronchiectasis	0	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B	.	5
HP:0002110	HP:0002110	Bronchiectasis	0	IRF9 CL E G H	10379	6131	OMIM:618648	IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD65
HP:0002110	HP:0002110	Bronchiectasis	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0002110	HP:0002110	Bronchiectasis	0	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0002110	HP:0002110	Bronchiectasis	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002110	HP:0002110	Bronchiectasis	0	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0002110	HP:0002110	Bronchiectasis	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002110	HP:0002110	Bronchiectasis	0	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	3
HP:0002110	HP:0002110	Bronchiectasis	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:0002110	HP:0002110	Bronchiectasis	0	MCIDAS CL E G H	345643	40050	OMIM:618695	CILIARY DYSKINESIA, PRIMARY, 42; CILD42		13
HP:0002110	HP:0002110	Bronchiectasis	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	13
HP:0002110	HP:0002110	Bronchiectasis	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0002110	HP:0002110	Bronchiectasis	0	MPEG1 CL E G H	219972	29619	OMIM:619223	IMMUNODEFICIENCY 77; IMD77
HP:0002110	HP:0002110	Bronchiectasis	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	1
HP:0002110	HP:0002110	Bronchiectasis	0	MUC5B CL E G H	727897	7516	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	133
HP:0002110	HP:0002110	Bronchiectasis	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0002110	HP:0002110	Bronchiectasis	0	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0002110	HP:0002110	Bronchiectasis	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0002110	HP:0002110	Bronchiectasis	0	NEK10 CL E G H	152110	18592	OMIM:618781	CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0002110	HP:0002110	Bronchiectasis	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002110	HP:0002110	Bronchiectasis	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	7
HP:0002110	HP:0002110	Bronchiectasis	0	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0002110	HP:0002110	Bronchiectasis	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	11
HP:0002110	HP:0002110	Bronchiectasis	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040282 - Frequent	11
HP:0002110	HP:0002110	Bronchiectasis	0	NME5 CL E G H	8382	7853	OMIM:620032
HP:0002110	HP:0002110	Bronchiectasis	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	50
HP:0002110	HP:0002110	Bronchiectasis	0	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	.
HP:0002110	HP:0002110	Bronchiectasis	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002110	HP:0002110	Bronchiectasis	0	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0002110	HP:0002110	Bronchiectasis	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002110	HP:0002110	Bronchiectasis	0	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	.
HP:0002110	HP:0002110	Bronchiectasis	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002110	HP:0002110	Bronchiectasis	0	ODAD4 CL E G H	83538	25280	OMIM:617092	Ciliary dyskinesia, primary, 35	.
HP:0002110	HP:0002110	Bronchiectasis	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002110	HP:0002110	Bronchiectasis	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	201
HP:0002110	HP:0002110	Bronchiectasis	0	PARN CL E G H	5073	8609	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	26
HP:0002110	HP:0002110	Bronchiectasis	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0002110	HP:0002110	Bronchiectasis	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0002110	HP:0002110	Bronchiectasis	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0002110	HP:0002110	Bronchiectasis	0	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0002110	HP:0002110	Bronchiectasis	0	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	43
HP:0002110	HP:0002110	Bronchiectasis	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36	HP:0040284 - Very rare	43
HP:0002110	HP:0002110	Bronchiectasis	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0002110	HP:0002110	Bronchiectasis	0	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature		1129
HP:0002110	HP:0002110	Bronchiectasis	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	10
HP:0002110	HP:0002110	Bronchiectasis	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0002110	HP:0002110	Bronchiectasis	0	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0002110	HP:0002110	Bronchiectasis	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	HP:0040283 - Occasional	43
HP:0002110	HP:0002110	Bronchiectasis	0	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0002110	HP:0002110	Bronchiectasis	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	200
HP:0002110	HP:0002110	Bronchiectasis	0	RSPH1 CL E G H	89765	12371	OMIM:615481	Ciliary dyskinesia, primary, 24	.	31
HP:0002110	HP:0002110	Bronchiectasis	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	31
HP:0002110	HP:0002110	Bronchiectasis	0	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32	.	5
HP:0002110	HP:0002110	Bronchiectasis	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	5
HP:0002110	HP:0002110	Bronchiectasis	0	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11		58
HP:0002110	HP:0002110	Bronchiectasis	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	58
HP:0002110	HP:0002110	Bronchiectasis	0	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12		20
HP:0002110	HP:0002110	Bronchiectasis	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	20
HP:0002110	HP:0002110	Bronchiectasis	0	RTEL1 CL E G H	51750	15888	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	77
HP:0002110	HP:0002110	Bronchiectasis	0	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0002110	HP:0002110	Bronchiectasis	0	SCNN1A CL E G H	6337	10599	OMIM:613021	Bronchiectasis with or without elevated sweat chloride 2	.	67
HP:0002110	HP:0002110	Bronchiectasis	0	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis	HP:0040280 - Obligate	67
HP:0002110	HP:0002110	Bronchiectasis	0	SCNN1B CL E G H	6338	10600	OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1	.	61
HP:0002110	HP:0002110	Bronchiectasis	0	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis	HP:0040280 - Obligate	61
HP:0002110	HP:0002110	Bronchiectasis	0	SCNN1G CL E G H	6340	10602	OMIM:613071	Bronchiectasis with or without elevated sweat chloride 3	.	57
HP:0002110	HP:0002110	Bronchiectasis	0	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis	HP:0040280 - Obligate	57
HP:0002110	HP:0002110	Bronchiectasis	0	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency		131
HP:0002110	HP:0002110	Bronchiectasis	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0002110	HP:0002110	Bronchiectasis	0	SFTPA1 CL E G H	653509	10798	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	19
HP:0002110	HP:0002110	Bronchiectasis	0	SFTPA2 CL E G H	729238	10799	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	10
HP:0002110	HP:0002110	Bronchiectasis	0	SFTPC CL E G H	6440	10802	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	33
HP:0002110	HP:0002110	Bronchiectasis	0	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0002110	HP:0002110	Bronchiectasis	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0002110	HP:0002110	Bronchiectasis	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0002110	HP:0002110	Bronchiectasis	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0002110	HP:0002110	Bronchiectasis	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040283 - Occasional	7
HP:0002110	HP:0002110	Bronchiectasis	0	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0002110	HP:0002110	Bronchiectasis	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002110	HP:0002110	Bronchiectasis	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0002110	HP:0002110	Bronchiectasis	0	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28	.	45
HP:0002110	HP:0002110	Bronchiectasis	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	45
HP:0002110	HP:0002110	Bronchiectasis	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	15
HP:0002110	HP:0002110	Bronchiectasis	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent	89
HP:0002110	HP:0002110	Bronchiectasis	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0002110	HP:0002110	Bronchiectasis	0	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46		3
HP:0002110	HP:0002110	Bronchiectasis	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	3
HP:0002110	HP:0002110	Bronchiectasis	0	STN1 CL E G H	79991	26200	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	2
HP:0002110	HP:0002110	Bronchiectasis	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002110	HP:0002110	Bronchiectasis	0	STX3 CL E G H	6809	11438	OMIM:619445	DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12		1
HP:0002110	HP:0002110	Bronchiectasis	0	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID		1
HP:0002110	HP:0002110	Bronchiectasis	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0002110	HP:0002110	Bronchiectasis	0	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I	.	5
HP:0002110	HP:0002110	Bronchiectasis	0	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I	.	17
HP:0002110	HP:0002110	Bronchiectasis	0	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I	.	3
HP:0002110	HP:0002110	Bronchiectasis	0	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	2
HP:0002110	HP:0002110	Bronchiectasis	0	TERC CL E G H	7012	11727	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	48
HP:0002110	HP:0002110	Bronchiectasis	0	TERT CL E G H	7015	11730	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	238
HP:0002110	HP:0002110	Bronchiectasis	0	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0002110	HP:0002110	Bronchiectasis	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0002110	HP:0002110	Bronchiectasis	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0002110	HP:0002110	Bronchiectasis	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	32
HP:0002110	HP:0002110	Bronchiectasis	0	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2	.	32
HP:0002110	HP:0002110	Bronchiectasis	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	12
HP:0002110	HP:0002110	Bronchiectasis	0	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2	.	12
HP:0002110	HP:0002110	Bronchiectasis	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	1
HP:0002110	HP:0002110	Bronchiectasis	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0002110	HP:0002110	Bronchiectasis	0	TP73 CL E G H	7161	12003	OMIM:619466	CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0002110	HP:0002110	Bronchiectasis	0	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0002110	HP:0002110	Bronchiectasis	0	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0002110	HP:0002110	Bronchiectasis	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0002110	HP:0002110	Bronchiectasis	0	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0002110	HP:0002110	Bronchiectasis	0	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0002110	HP:0002110	Bronchiectasis	0	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22	.	20
HP:0002110	HP:0002110	Bronchiectasis	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	20
HP:0002110	HP:0002110	Bronchiectasis	0	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive	.	1

Genes (164) :ABCA3 ALDH18A1 ARHGEF1 ATM ATP11A B2M BACH2 BLM BLNK BTK BTNL2 CARD10 CARMIL2 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CD19 CD79A CD79B CD81 CD8A CEACAM3 CEACAM6 CFAP221 CFAP298 CFAP300 CFTR CLCA4 CR2 CTLA4 CXCR4 DCTN4 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DNMT3B DOCK8 DPP9 DRC1 DSP EDNRA ELN EMILIN1 FAM13A FBLN5 FCGR2A FNIP1 FOXJ1 GAS2L2 GAS8 GCLC GSTM3 HFE HLA-DRB1 HMOX1 HYDIN ICOS IGHG2 IGHM IGKC IGLL1 IL21R IL6ST IRF2BP2 IRF8 IRF9 KCNN4 LAT LRBA LRRC56 LRRC8A MAGT1 MCIDAS MIF MPEG1 MS4A1 MUC5B NBN NCKAP1L NDUFA6 NEK10 NFKB1 NFKB2 NME5 NME8 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PARN PGM3 PI4KA PIK3CD PIK3R1 POLA1 POLE PRKCD RAC2 RASGRP1 RIN2 RIPK1 RPGR RSPH1 RSPH3 RSPH4A RSPH9 RTEL1 SASH3 SCNN1A SCNN1B SCNN1G SERPINA1 SFTPA1 SFTPA2 SFTPC SLC11A1 SLC26A9 SLC29A3 SLC34A2 SLC41A1 SLC6A14 SLC9A3 SPAG1 SPEF2 STAT1 STK36 STN1 STX1A STX3 SYK TAP1 TAP2 TAPBP TCF3 TERC TERT TET2 TGFB1 TNFRSF13B TNFRSF13C TNFSF12 TOM1 TP73 TPP2 TTC12 UNC119 WDR1 ZMYND10 ZNF341

Diseases (118) :ORPHA:2032 ORPHA:90348 OMIM:618459 OMIM:208900 OMIM:241600 OMIM:618394 OMIM:210900 ORPHA:33110 OMIM:300755 ORPHA:797 OMIM:612387 OMIM:619632 OMIM:618131 OMIM:614679 ORPHA:244 OMIM:613807 OMIM:613808 OMIM:615504 OMIM:615872 ORPHA:1572 OMIM:240500 OMIM:608957 ORPHA:586 OMIM:615500 OMIM:618063 OMIM:211400 OMIM:219700 ORPHA:60033 OMIM:616100 OMIM:193670 ORPHA:51636 OMIM:613193 OMIM:614935 OMIM:606763 OMIM:615482 OMIM:300991 OMIM:617577 OMIM:611884 OMIM:608644 OMIM:244400 OMIM:612444 OMIM:617091 OMIM:614017 OMIM:242860 OMIM:243700 OMIM:615294 OMIM:123700 OMIM:620080 OMIM:619705 OMIM:618699 OMIM:618449 OMIM:616726 OMIM:181000 OMIM:608647 OMIM:607594 ORPHA:183675 OMIM:601495 OMIM:615207 OMIM:619752 OMIM:618523 OMIM:226990 OMIM:618648 OMIM:617514 OMIM:614700 OMIM:618254 OMIM:300853 OMIM:618695 OMIM:619223 OMIM:251260 OMIM:618982 OMIM:618253 OMIM:618781 OMIM:616576 ORPHA:293978 OMIM:620032 OMIM:615067 OMIM:615451 OMIM:616037 OMIM:617092 OMIM:615816 ORPHA:443811 OMIM:619708 OMIM:615513 OMIM:616005 OMIM:301220 OMIM:615139 OMIM:618986 OMIM:618534 OMIM:613075 OMIM:618108 OMIM:615481 OMIM:616481 OMIM:612649 OMIM:612650 OMIM:301082 OMIM:613021 OMIM:613071 OMIM:613490 OMIM:610913 ORPHA:168569 ORPHA:60025 OMIM:619468 OMIM:615505 ORPHA:391487 OMIM:614162 OMIM:619436 OMIM:619445 OMIM:619446 OMIM:619381 OMIM:604571 OMIM:619126 OMIM:619466 OMIM:619220 OMIM:618801 OMIM:615518 OMIM:150550 OMIM:615444 OMIM:618282

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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