Human Phenotype Ontology

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:0006536	HP:0006536	Airway obstruction	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	208
HP:0006536	HP:0006536	Airway obstruction	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome		36
HP:0006536	HP:0006536	Airway obstruction	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0006536	HP:0006536	Airway obstruction	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040283 - Occasional	3179
HP:0006536	HP:0006536	Airway obstruction	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0006536	HP:0006536	Airway obstruction	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0006536	HP:0006536	Airway obstruction	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0006536	HP:0006536	Airway obstruction	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0006536	HP:0006536	Airway obstruction	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	36
HP:0006536	HP:0006536	Airway obstruction	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	126
HP:0006536	HP:0006536	Airway obstruction	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	182
HP:0006536	HP:0006536	Airway obstruction	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	23
HP:0006536	HP:0006536	Airway obstruction	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	23
HP:0006536	HP:0006536	Airway obstruction	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0006536	HP:0006536	Airway obstruction	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0006536	HP:0006536	Airway obstruction	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0006536	HP:0006536	Airway obstruction	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0006536	HP:0006536	Airway obstruction	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0006536	HP:0006536	Airway obstruction	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0006536	HP:0006536	Airway obstruction	0	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis		1371
HP:0006536	HP:0006536	Airway obstruction	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	5
HP:0006536	HP:0006536	Airway obstruction	0	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040284 - Very rare	5
HP:0006536	HP:0006536	Airway obstruction	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0006536	HP:0006536	Airway obstruction	0	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome		215
HP:0006536	HP:0006536	Airway obstruction	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0006536	HP:0006536	Airway obstruction	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis		10
HP:0006536	HP:0006536	Airway obstruction	0	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease		27
HP:0006536	HP:0006536	Airway obstruction	0	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease		111
HP:0006536	HP:0006536	Airway obstruction	0	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease
HP:0006536	HP:0006536	Airway obstruction	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0006536	HP:0006536	Airway obstruction	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0006536	HP:0006536	Airway obstruction	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	116
HP:0006536	HP:0006536	Airway obstruction	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0006536	HP:0006536	Airway obstruction	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	78
HP:0006536	HP:0006536	Airway obstruction	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	63
HP:0006536	HP:0006536	Airway obstruction	0	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25		27
HP:0006536	HP:0006536	Airway obstruction	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	27
HP:0006536	HP:0006536	Airway obstruction	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	62
HP:0006536	HP:0006536	Airway obstruction	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0006536	HP:0006536	Airway obstruction	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	21
HP:0006536	HP:0006536	Airway obstruction	0	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0006536	HP:0006536	Airway obstruction	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	542
HP:0006536	HP:0006536	Airway obstruction	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	527
HP:0006536	HP:0006536	Airway obstruction	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	18
HP:0006536	HP:0006536	Airway obstruction	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	73
HP:0006536	HP:0006536	Airway obstruction	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	104
HP:0006536	HP:0006536	Airway obstruction	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	2
HP:0006536	HP:0006536	Airway obstruction	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	167
HP:0006536	HP:0006536	Airway obstruction	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040283 - Occasional	3
HP:0006536	HP:0006536	Airway obstruction	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	44
HP:0006536	HP:0006536	Airway obstruction	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0006536	HP:0006536	Airway obstruction	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0006536	HP:0006536	Airway obstruction	0	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3		28
HP:0006536	HP:0006536	Airway obstruction	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0006536	HP:0006536	Airway obstruction	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0006536	HP:0006536	Airway obstruction	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0006536	HP:0006536	Airway obstruction	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	1
HP:0006536	HP:0006536	Airway obstruction	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	9
HP:0006536	HP:0006536	Airway obstruction	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	87
HP:0006536	HP:0006536	Airway obstruction	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	37
HP:0006536	HP:0006536	Airway obstruction	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0006536	HP:0006536	Airway obstruction	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291
HP:0006536	HP:0006536	Airway obstruction	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease		291
HP:0006536	HP:0006536	Airway obstruction	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria		173
HP:0006536	HP:0006536	Airway obstruction	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0006536	HP:0006536	Airway obstruction	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0006536	HP:0006536	Airway obstruction	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0006536	HP:0006536	Airway obstruction	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0006536	HP:0006536	Airway obstruction	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0006536	HP:0006536	Airway obstruction	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0006536	HP:0006536	Airway obstruction	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease		1
HP:0006536	HP:0006536	Airway obstruction	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis		1
HP:0006536	HP:0006536	Airway obstruction	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0006536	HP:0006536	Airway obstruction	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0006536	HP:0006536	Airway obstruction	0	HMOX1 CL E G H	3162	5013	OMIM:606963	Pulmonary disease, chronic obstructive		3
HP:0006536	HP:0006536	Airway obstruction	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	21
HP:0006536	HP:0006536	Airway obstruction	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0006536	HP:0006536	Airway obstruction	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0006536	HP:0006536	Airway obstruction	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0006536	HP:0006536	Airway obstruction	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0006536	HP:0006536	Airway obstruction	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome		3
HP:0006536	HP:0006536	Airway obstruction	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0006536	HP:0006536	Airway obstruction	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040283 - Occasional	14
HP:0006536	HP:0006536	Airway obstruction	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0006536	HP:0006536	Airway obstruction	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0006536	HP:0006536	Airway obstruction	0	MCIDAS CL E G H	345643	40050	OMIM:618695	CILIARY DYSKINESIA, PRIMARY, 42; CILD42		13
HP:0006536	HP:0006536	Airway obstruction	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	13
HP:0006536	HP:0006536	Airway obstruction	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0006536	HP:0006536	Airway obstruction	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0006536	HP:0006536	Airway obstruction	0	MMP1 CL E G H	4312	7155	OMIM:606963	Pulmonary disease, chronic obstructive		6
HP:0006536	HP:0006536	Airway obstruction	0	MPEG1 CL E G H	219972	29619	OMIM:619223	IMMUNODEFICIENCY 77; IMD77
HP:0006536	HP:0006536	Airway obstruction	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	452
HP:0006536	HP:0006536	Airway obstruction	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy		1269
HP:0006536	HP:0006536	Airway obstruction	0	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease		13
HP:0006536	HP:0006536	Airway obstruction	0	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease		67
HP:0006536	HP:0006536	Airway obstruction	0	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease		37
HP:0006536	HP:0006536	Airway obstruction	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0006536	HP:0006536	Airway obstruction	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0006536	HP:0006536	Airway obstruction	0	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0006536	HP:0006536	Airway obstruction	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	90
HP:0006536	HP:0006536	Airway obstruction	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	50
HP:0006536	HP:0006536	Airway obstruction	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0006536	HP:0006536	Airway obstruction	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0006536	HP:0006536	Airway obstruction	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0006536	HP:0006536	Airway obstruction	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0006536	HP:0006536	Airway obstruction	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	201
HP:0006536	HP:0006536	Airway obstruction	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0006536	HP:0006536	Airway obstruction	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0006536	HP:0006536	Airway obstruction	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis		3
HP:0006536	HP:0006536	Airway obstruction	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0006536	HP:0006536	Airway obstruction	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	200
HP:0006536	HP:0006536	Airway obstruction	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0006536	HP:0006536	Airway obstruction	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	31
HP:0006536	HP:0006536	Airway obstruction	0	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32		5
HP:0006536	HP:0006536	Airway obstruction	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	5
HP:0006536	HP:0006536	Airway obstruction	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	58
HP:0006536	HP:0006536	Airway obstruction	0	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12		20
HP:0006536	HP:0006536	Airway obstruction	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	20
HP:0006536	HP:0006536	Airway obstruction	0	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis		67
HP:0006536	HP:0006536	Airway obstruction	0	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis		61
HP:0006536	HP:0006536	Airway obstruction	0	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis		57
HP:0006536	HP:0006536	Airway obstruction	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0006536	HP:0006536	Airway obstruction	0	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency		131
HP:0006536	HP:0006536	Airway obstruction	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0006536	HP:0006536	Airway obstruction	0	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism		177
HP:0006536	HP:0006536	Airway obstruction	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0006536	HP:0006536	Airway obstruction	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0006536	HP:0006536	Airway obstruction	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0006536	HP:0006536	Airway obstruction	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0006536	HP:0006536	Airway obstruction	0	SOX9 CL E G H	6662	11204	ORPHA:718	Isolated Pierre Robin syndrome		109
HP:0006536	HP:0006536	Airway obstruction	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	45
HP:0006536	HP:0006536	Airway obstruction	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	15
HP:0006536	HP:0006536	Airway obstruction	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	3
HP:0006536	HP:0006536	Airway obstruction	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0006536	HP:0006536	Airway obstruction	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0006536	HP:0006536	Airway obstruction	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0006536	HP:0006536	Airway obstruction	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	20
HP:0006536	HP:0006536	Airway obstruction	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0006536	HP:0006536	Airway obstruction	0	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0006536	HP:0006536	Airway obstruction	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040283 - Occasional	6
HP:0006536	HP:0006536	Airway obstruction	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	6
HP:0006536	HP:0006536	Airway obstruction	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0006536	HP:0006536	Airway obstruction	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0006536	HP:0006536	Airway obstruction	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent	1
HP:0006536	HP:0006536	Airway obstruction	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0006536	HP:0006536	Airway obstruction	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0006536	HP:0006536	Airway obstruction	0	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema		4
HP:0006536	HP:0006536	Airway obstruction	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0006536	HP:0006536	Airway obstruction	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	20
HP:0006536	HP:0006536	Airway obstruction	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis		5
HP:0006536	HP:0006536	Airway obstruction	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia		5
HP:0006536	HP:0033541	Irreversible airflow obstruction	1	CL E G H
HP:0006536	HP:0033540	Reversible airflow obstruction	1	CL E G H
HP:0006536	HP:0002781	Upper airway obstruction	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040282 - Frequent	36
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0006536	HP:0002781	Upper airway obstruction	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0006536	HP:0030877	Reduced FEV1/FVC ratio	1	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent	1371
HP:0006536	HP:0002781	Upper airway obstruction	1	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	HP:0040281 - Very frequent	215
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	10
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	27
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	111
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent
HP:0006536	HP:0002781	Upper airway obstruction	1	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040283 - Occasional
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25	.	27
HP:0006536	HP:0030877	Reduced FEV1/FVC ratio	1	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0006536	HP:0030877	Reduced FEV1/FVC ratio	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0006536	HP:0002781	Upper airway obstruction	1	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3		28
HP:0006536	HP:0002781	Upper airway obstruction	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0006536	HP:0002781	Upper airway obstruction	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional	291
HP:0006536	HP:0002781	Upper airway obstruction	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0006536	HP:0030877	Reduced FEV1/FVC ratio	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease	HP:0040282 - Frequent	1
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	1
HP:0006536	HP:0002781	Upper airway obstruction	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	HMOX1 CL E G H	3162	5013	OMIM:606963	Pulmonary disease, chronic obstructive	.	3
HP:0006536	HP:0002781	Upper airway obstruction	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional	86
HP:0006536	HP:0002781	Upper airway obstruction	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional	86
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0006536	HP:0002781	Upper airway obstruction	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0006536	HP:0002781	Upper airway obstruction	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	MCIDAS CL E G H	345643	40050	OMIM:618695	CILIARY DYSKINESIA, PRIMARY, 42; CILD42		13
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	MMP1 CL E G H	4312	7155	OMIM:606963	Pulmonary disease, chronic obstructive	.	6
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	MPEG1 CL E G H	219972	29619	OMIM:619223	IMMUNODEFICIENCY 77; IMD77
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional	1269
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	13
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	67
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	37
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0006536	HP:0002781	Upper airway obstruction	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	3
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32		5
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12		20
HP:0006536	HP:0030877	Reduced FEV1/FVC ratio	1	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent	67
HP:0006536	HP:0030877	Reduced FEV1/FVC ratio	1	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent	61
HP:0006536	HP:0030877	Reduced FEV1/FVC ratio	1	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent	57
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency	.	131
HP:0006536	HP:0002781	Upper airway obstruction	1	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism	HP:0040283 - Occasional	177
HP:0006536	HP:0002781	Upper airway obstruction	1	SOX9 CL E G H	6662	11204	ORPHA:718	Isolated Pierre Robin syndrome	HP:0040282 - Frequent	109
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	65
HP:0006536	HP:0006510	Chronic pulmonary obstruction	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	6
HP:0006536	HP:0002781	Upper airway obstruction	1	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema		4
HP:0006536	HP:0002781	Upper airway obstruction	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83
HP:0006536	HP:0002781	Upper airway obstruction	1	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	HP:0040283 - Occasional	5
HP:0006536	HP:0002781	Upper airway obstruction	1	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040283 - Occasional	5
HP:0006536	HP:0012271	Episodic upper airway obstruction	2	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3		28