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:0002205	HP:0002205	Recurrent respiratory infections	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia		15
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis	HP:0040281 - Very frequent	130
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional	130
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	96
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040282 - Frequent	1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0002205	HP:0002205	Recurrent respiratory infections	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0002205	HP:0002205	Recurrent respiratory infections	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040283 - Occasional	76
HP:0002205	HP:0002205	Recurrent respiratory infections	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0002205	HP:0002205	Recurrent respiratory infections	0	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2	.	58
HP:0002205	HP:0002205	Recurrent respiratory infections	0	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis	HP:0040281 - Very frequent	19
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia		104
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional	75
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional	63
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0002205	HP:0002205	Recurrent respiratory infections	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0002205	HP:0002205	Recurrent respiratory infections	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.	78
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional	1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent	145
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent	3267
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0002205	HP:0002205	Recurrent respiratory infections	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43	.	8
HP:0002205	HP:0002205	Recurrent respiratory infections	0	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME		38
HP:0002205	HP:0002205	Recurrent respiratory infections	0	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0002205	HP:0002205	Recurrent respiratory infections	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002205	HP:0002205	Recurrent respiratory infections	0	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	18
HP:0002205	HP:0002205	Recurrent respiratory infections	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002205	HP:0002205	Recurrent respiratory infections	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0002205	HP:0002205	Recurrent respiratory infections	0	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional
HP:0002205	HP:0002205	Recurrent respiratory infections	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0002205	HP:0002205	Recurrent respiratory infections	0	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive	.	4
HP:0002205	HP:0002205	Recurrent respiratory infections	0	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	4
HP:0002205	HP:0002205	Recurrent respiratory infections	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0002205	HP:0002205	Recurrent respiratory infections	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0002205	HP:0002205	Recurrent respiratory infections	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002205	HP:0002205	Recurrent respiratory infections	0	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive		92
HP:0002205	HP:0002205	Recurrent respiratory infections	0	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency		1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	.	5
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency	.	45
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040282 - Frequent	147
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17	.	36
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia		36
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent	33
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia		126
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia		182
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27	.	23
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia		23
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CCNO CL E G H	10309	18576	OMIM:615872	Ciliary dyskinesia, primary, 29	.	23
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia		23
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	38
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19	.	18
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18	.	24
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17	.	19
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive	.	9
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	9
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive	.	6
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	6
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial	.	4
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040281 - Very frequent	4
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency		57
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma		1371
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	1371
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis		1371
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.	16
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	65
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040282 - Frequent	4
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040281 - Very frequent	118
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	102
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0002205	HP:0002205	Recurrent respiratory infections	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG		67
HP:0002205	HP:0002205	Recurrent respiratory infections	0	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj	.	67
HP:0002205	HP:0002205	Recurrent respiratory infections	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040282 - Frequent	71
HP:0002205	HP:0002205	Recurrent respiratory infections	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia		222
HP:0002205	HP:0002205	Recurrent respiratory infections	0	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19		6
HP:0002205	HP:0002205	Recurrent respiratory infections	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0002205	HP:0002205	Recurrent respiratory infections	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional	678
HP:0002205	HP:0002205	Recurrent respiratory infections	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional	18
HP:0002205	HP:0002205	Recurrent respiratory infections	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0002205	HP:0002205	Recurrent respiratory infections	0	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0002205	HP:0002205	Recurrent respiratory infections	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0002205	HP:0002205	Recurrent respiratory infections	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0002205	HP:0002205	Recurrent respiratory infections	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0002205	HP:0002205	Recurrent respiratory infections	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CORO1A CL E G H	11151	2252	OMIM:615401	Immunodeficiency 8	.	7
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent	291
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040282 - Frequent	291
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	160
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	10
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040282 - Frequent	50
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	27
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE		27
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	111
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002205	HP:0002205	Recurrent respiratory infections	0	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional	54
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type		45
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V		2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DIP2B CL E G H	57609	29284	OMIM:136630	Mental retardation, Fra12a type		4
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	65
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1	.	45
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13		116
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia		116
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19	.
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10		78
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia		78
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2	.	63
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia		63
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25	.	27
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia		27
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18		62
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia		62
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked	.
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia		21
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia		542
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3		527
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia		527
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia		18
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia		73
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia		104
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34		2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia		2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia		167
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040281 - Very frequent	79
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040281 - Very frequent	217
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional	26
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21		44
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia		44
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	.	16
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease		65
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly	.
HP:0002205	HP:0002205	Recurrent respiratory infections	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis	HP:0040282 - Frequent	14
HP:0002205	HP:0002205	Recurrent respiratory infections	0	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0002205	HP:0002205	Recurrent respiratory infections	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0002205	HP:0002205	Recurrent respiratory infections	0	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2		257
HP:0002205	HP:0002205	Recurrent respiratory infections	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0002205	HP:0002205	Recurrent respiratory infections	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040282 - Frequent	133
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III		133
HP:0002205	HP:0002205	Recurrent respiratory infections	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0002205	HP:0002205	Recurrent respiratory infections	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0002205	HP:0002205	Recurrent respiratory infections	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040282 - Frequent	250
HP:0002205	HP:0002205	Recurrent respiratory infections	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0002205	HP:0002205	Recurrent respiratory infections	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040281 - Very frequent	40
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome	.	12
HP:0002205	HP:0002205	Recurrent respiratory infections	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0002205	HP:0002205	Recurrent respiratory infections	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040282 - Frequent	114
HP:0002205	HP:0002205	Recurrent respiratory infections	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0002205	HP:0002205	Recurrent respiratory infections	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0002205	HP:0002205	Recurrent respiratory infections	0	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.	63
HP:0002205	HP:0002205	Recurrent respiratory infections	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002205	HP:0002205	Recurrent respiratory infections	0	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0002205	HP:0002205	Recurrent respiratory infections	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0002205	HP:0002205	Recurrent respiratory infections	0	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20	.	4
HP:0002205	HP:0002205	Recurrent respiratory infections	0	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0002205	HP:0002205	Recurrent respiratory infections	0	FCN3 CL E G H	8547	3625	OMIM:613860	FICOLIN 3 DEFICIENCY		1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002205	HP:0002205	Recurrent respiratory infections	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent	8
HP:0002205	HP:0002205	Recurrent respiratory infections	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040282 - Frequent	493
HP:0002205	HP:0002205	Recurrent respiratory infections	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0002205	HP:0002205	Recurrent respiratory infections	0	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional	197
HP:0002205	HP:0002205	Recurrent respiratory infections	0	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria		55
HP:0002205	HP:0002205	Recurrent respiratory infections	0	FOXJ1 CL E G H	2302	3816	OMIM:618699	CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0002205	HP:0002205	Recurrent respiratory infections	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0002205	HP:0002205	Recurrent respiratory infections	0	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0002205	HP:0002205	Recurrent respiratory infections	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome		184
HP:0002205	HP:0002205	Recurrent respiratory infections	0	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	184
HP:0002205	HP:0002205	Recurrent respiratory infections	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0002205	HP:0002205	Recurrent respiratory infections	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0002205	HP:0002205	Recurrent respiratory infections	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.	407
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GAS2L2 CL E G H	246176	24846	OMIM:618449	Ciliary dyskinesia, primary, 41		1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia		1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33		9
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia		9
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040282 - Frequent	137
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2	HP:0040282 - Frequent
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040283 - Occasional
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)		120
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum		52
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GRIA1 CL E G H	2890	4571	OMIM:619927			3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040281 - Very frequent	54
HP:0002205	HP:0002205	Recurrent respiratory infections	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0002205	HP:0002205	Recurrent respiratory infections	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0002205	HP:0002205	Recurrent respiratory infections	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040281 - Very frequent	6
HP:0002205	HP:0002205	Recurrent respiratory infections	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0002205	HP:0002205	Recurrent respiratory infections	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	38
HP:0002205	HP:0002205	Recurrent respiratory infections	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC		86
HP:0002205	HP:0002205	Recurrent respiratory infections	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis		4
HP:0002205	HP:0002205	Recurrent respiratory infections	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	4
HP:0002205	HP:0002205	Recurrent respiratory infections	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0002205	HP:0002205	Recurrent respiratory infections	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis		2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6		45
HP:0002205	HP:0002205	Recurrent respiratory infections	0	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5	.	21
HP:0002205	HP:0002205	Recurrent respiratory infections	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia		21
HP:0002205	HP:0002205	Recurrent respiratory infections	0	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040282 - Frequent	115
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.	115
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.	6
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.	28
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	7
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	7
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive	.	3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	8
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	14
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	196
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51	HP:0040283 - Occasional	196
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	4
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity	.
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0002205	HP:0002205	Recurrent respiratory infections	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.	18
HP:0002205	HP:0002205	Recurrent respiratory infections	0	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia	HP:0040282 - Frequent	18
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IRAK4 CL E G H	51135	17967	ORPHA:70592	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency		58
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	4
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B	.	5
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital		6
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	127
HP:0002205	HP:0002205	Recurrent respiratory infections	0	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0002205	HP:0002205	Recurrent respiratory infections	0	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive	.	8
HP:0002205	HP:0002205	Recurrent respiratory infections	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0002205	HP:0002205	Recurrent respiratory infections	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040282 - Frequent	140
HP:0002205	HP:0002205	Recurrent respiratory infections	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0002205	HP:0002205	Recurrent respiratory infections	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0002205	HP:0002205	Recurrent respiratory infections	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0002205	HP:0002205	Recurrent respiratory infections	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent	141
HP:0002205	HP:0002205	Recurrent respiratory infections	0	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0002205	HP:0002205	Recurrent respiratory infections	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome		3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0002205	HP:0002205	Recurrent respiratory infections	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0002205	HP:0002205	Recurrent respiratory infections	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent	276
HP:0002205	HP:0002205	Recurrent respiratory infections	0	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional
HP:0002205	HP:0002205	Recurrent respiratory infections	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome		13
HP:0002205	HP:0002205	Recurrent respiratory infections	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41		13
HP:0002205	HP:0002205	Recurrent respiratory infections	0	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	HP:0040283 - Occasional	196
HP:0002205	HP:0002205	Recurrent respiratory infections	0	KRT5 CL E G H	3852	6442	OMIM:619599	EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D		173
HP:0002205	HP:0002205	Recurrent respiratory infections	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0002205	HP:0002205	Recurrent respiratory infections	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0002205	HP:0002205	Recurrent respiratory infections	0	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein		1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency		1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22	.	1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction		47
HP:0002205	HP:0002205	Recurrent respiratory infections	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0002205	HP:0002205	Recurrent respiratory infections	0	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency		46
HP:0002205	HP:0002205	Recurrent respiratory infections	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0002205	HP:0002205	Recurrent respiratory infections	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0002205	HP:0002205	Recurrent respiratory infections	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002205	HP:0002205	Recurrent respiratory infections	0	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional	1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0002205	HP:0002205	Recurrent respiratory infections	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002205	HP:0002205	Recurrent respiratory infections	0	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0002205	HP:0002205	Recurrent respiratory infections	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0002205	HP:0002205	Recurrent respiratory infections	0	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	LYST CL E G H	1130	1968	ORPHA:352723	Attenuated Chédiak-Higashi syndrome	HP:0040281 - Very frequent	239
HP:0002205	HP:0002205	Recurrent respiratory infections	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent	239
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	63
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	63
HP:0002205	HP:0002205	Recurrent respiratory infections	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:0002205	HP:0002205	Recurrent respiratory infections	0	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	6
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MANBA CL E G H	4126	6831	ORPHA:118	Beta-mannosidosis	HP:0040281 - Very frequent	55
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MASP2 CL E G H	10747	6902	OMIM:613791	Masp2 deficiency		41
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent	22
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MCIDAS CL E G H	345643	40050	OMIM:618695	CILIARY DYSKINESIA, PRIMARY, 42; CILD42		13
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia		13
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MESP2 CL E G H	145873	29659	OMIM:608681	Spondylocostal dysostosis 2, autosomal recessive	.	45
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1	.	45
HP:0002205	HP:0002205	Recurrent respiratory infections	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040282 - Frequent	33
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MIR140 CL E G H	406932	31527	OMIM:618618	SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MS4A1 CL E G H	931	7315	OMIM:613495	Immunodeficiency, common variable, 5		1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50	.	2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia		5
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy		185
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	131
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MYL9 CL E G H	10398	15754	OMIM:619365	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease	HP:0040283 - Occasional	35
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional	217
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4	.
HP:0002205	HP:0002205	Recurrent respiratory infections	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB		72
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent	706
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	13
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I		13
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	67
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II		67
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	37
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NCF4 CL E G H	4689	7662	OMIM:613960	Chronic granulomatous disease 3, autosomal recessive		37
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent	4
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NEK10 CL E G H	152110	18592	OMIM:618781	CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia	.	20
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	7
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	11
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	.	27
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	27
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional	60
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional	51
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	.	51
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NME5 CL E G H	8382	7853	OMIM:620032
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6	.	50
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia		50
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	17
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	12
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	HP:0040283 - Occasional	102
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	118
HP:0002205	HP:0002205	Recurrent respiratory infections	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia	.	2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	121
HP:0002205	HP:0002205	Recurrent respiratory infections	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0002205	HP:0002205	Recurrent respiratory infections	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	121
HP:0002205	HP:0002205	Recurrent respiratory infections	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	.
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	.
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ODAD4 CL E G H	83538	25280	OMIM:617092	Ciliary dyskinesia, primary, 35	.
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0002205	HP:0002205	Recurrent respiratory infections	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia		201
HP:0002205	HP:0002205	Recurrent respiratory infections	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2		201
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0002205	HP:0002205	Recurrent respiratory infections	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis		3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	26
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040283 - Occasional	531
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040281 - Very frequent	66
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040281 - Very frequent	15
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	7
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive	.	43
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	43
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36	.	43
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17		759
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2	HP:0040283 - Occasional	60
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040282 - Frequent	52
HP:0002205	HP:0002205	Recurrent respiratory infections	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature	.	1129
HP:0002205	HP:0002205	Recurrent respiratory infections	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0002205	HP:0002205	Recurrent respiratory infections	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities		42
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome		49
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy		49
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity	HP:0040284 - Very rare	49
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PSAP CL E G H	5660	9498	ORPHA:139406	Encephalopathy due to prosaposin deficiency	HP:0040281 - Very frequent	81
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis		3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion		53
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0002205	HP:0002205	Recurrent respiratory infections	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.	135
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	127
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	50
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0002205	HP:0002205	Recurrent respiratory infections	0	REEP1 CL E G H	65055	25786	OMIM:620011			87
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RELB CL E G H	5971	9956	OMIM:617585	Immunodeficiency 53	.	1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040281 - Very frequent	38
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040281 - Very frequent	26
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040281 - Very frequent	34
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia		200
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RPGR CL E G H	6103	10295	OMIM:300455	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS		200
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RSPH1 CL E G H	89765	12371	OMIM:615481	Ciliary dyskinesia, primary, 24		31
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia		31
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32	.	5
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia		5
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11	.	58
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia		58
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12		20
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia		20
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	77
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040281 - Very frequent	90
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional	1200
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040282 - Frequent	1200
HP:0002205	HP:0002205	Recurrent respiratory infections	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia		1200
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome	HP:0040282 - Frequent	4
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SCN10A CL E G H	6336	10582	ORPHA:90026	Primary erythromelalgia	HP:0040283 - Occasional	146
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SCN11A CL E G H	11280	10583	ORPHA:90026	Primary erythromelalgia	HP:0040283 - Occasional	19
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SCN9A CL E G H	6335	10597	ORPHA:90026	Primary erythromelalgia	HP:0040283 - Occasional	318
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		67
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis		67
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive	.	67
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		61
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis		61
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		57
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis		57
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16	.	61
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional	2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	144
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	131
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA		97
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61	.	2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type	HP:0040282 - Frequent	42
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SIK1 CL E G H	150094	11142	ORPHA:1935	Early myoclonic encephalopathy	HP:0040282 - Frequent	11
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional	40
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional	4
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	28
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SLC25A22 CL E G H	79751	19954	ORPHA:1935	Early myoclonic encephalopathy	HP:0040282 - Frequent	166
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040282 - Frequent	166
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	5
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption	HP:0040283 - Occasional	101
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	9
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	7
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I	.	22
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SMN1 CL E G H	6606	11117	OMIM:253550	Spinal muscular atrophy, type II	.	22
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.	164
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	37
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040282 - Frequent	37
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040282 - Frequent	49
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28	.	45
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia		45
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia		15
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040282 - Frequent	100
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0002205	HP:0002205	Recurrent respiratory infections	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0002205	HP:0002205	Recurrent respiratory infections	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C	.	89
HP:0002205	HP:0002205	Recurrent respiratory infections	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0002205	HP:0002205	Recurrent respiratory infections	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040281 - Very frequent	110
HP:0002205	HP:0002205	Recurrent respiratory infections	0	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0002205	HP:0002205	Recurrent respiratory infections	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0002205	HP:0002205	Recurrent respiratory infections	0	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46		3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia		3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent
HP:0002205	HP:0002205	Recurrent respiratory infections	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002205	HP:0002205	Recurrent respiratory infections	0	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID		1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional	60
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional	4
HP:0002205	HP:0002205	Recurrent respiratory infections	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	4
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I		5
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I		17
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I		3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia		271
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome		16
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040282 - Frequent	52
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis	HP:0040283 - Occasional	19
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	82
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	HP:0040281 - Very frequent	39
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	48
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	238
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent	13
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional	98
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	60
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form		103
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040282 - Frequent	6
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TNFRSF13B CL E G H	23495	18153	OMIM:609529	Immunoglobulin A deficiency 2		32
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	12
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome		131
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	44
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional	180
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional	248
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TP73 CL E G H	7161	12003	OMIM:619466	CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	54
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	108
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	4
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9		2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia		133
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040282 - Frequent	4
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	1090
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	2738
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TYK2 CL E G H	7297	12440	OMIM:611521	Immunodeficiency 35	.	77
HP:0002205	HP:0002205	Recurrent respiratory infections	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0002205	HP:0002205	Recurrent respiratory infections	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0002205	HP:0002205	Recurrent respiratory infections	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0002205	HP:0002205	Recurrent respiratory infections	0	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria	HP:0040282 - Frequent	135
HP:0002205	HP:0002205	Recurrent respiratory infections	0	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0002205	HP:0002205	Recurrent respiratory infections	0	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5		44
HP:0002205	HP:0002205	Recurrent respiratory infections	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	8
HP:0002205	HP:0002205	Recurrent respiratory infections	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0002205	HP:0002205	Recurrent respiratory infections	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0002205	HP:0002205	Recurrent respiratory infections	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0002205	HP:0002205	Recurrent respiratory infections	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0002205	HP:0002205	Recurrent respiratory infections	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0002205	HP:0002205	Recurrent respiratory infections	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040281 - Very frequent	1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002205	HP:0002205	Recurrent respiratory infections	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002205	HP:0002205	Recurrent respiratory infections	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional	20
HP:0002205	HP:0002205	Recurrent respiratory infections	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	65
HP:0002205	HP:0002205	Recurrent respiratory infections	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0002205	HP:0002205	Recurrent respiratory infections	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent	83
HP:0002205	HP:0002205	Recurrent respiratory infections	0	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0002205	HP:0002205	Recurrent respiratory infections	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4		95
HP:0002205	HP:0002205	Recurrent respiratory infections	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0002205	HP:0002205	Recurrent respiratory infections	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	6
HP:0002205	HP:0002205	Recurrent respiratory infections	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	40
HP:0002205	HP:0002205	Recurrent respiratory infections	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0002205	HP:0002205	Recurrent respiratory infections	0	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2	.	81
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040281 - Very frequent	9
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22	.	20
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia		20
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive	.	1
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0002205	HP:0002205	Recurrent respiratory infections	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent	1
HP:0002205	HP:0004880	Respiratory infections in early life	1	CL E G H
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia		15
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional	47
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2		58
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2		58
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040283 - Occasional	104
HP:0002205	HP:0011948	Recurrent acute respiratory tract infection	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	88
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	219
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	25
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional	78
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME		38
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive		92
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency		1
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency		1
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0002205	HP:0006538	Recurrent bronchopulmonary infections	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	36
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	126
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	182
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27		23
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	23
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	23
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency		38
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive		9
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency		1
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency		57
HP:0002205	HP:0005366	Recurrent streptococcus pneumoniae infections	1	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency	.	57
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma	HP:0040283 - Occasional	1371
HP:0002205	HP:0006538	Recurrent bronchopulmonary infections	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis	.	1371
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent	1371
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.	118
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.	118
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	38
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent	67
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia		222
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19	.	6
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional	90
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency		10
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome	.	9
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040282 - Frequent	9
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE		27
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation	.	94
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type		45
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	DIP2B CL E G H	57609	29284	OMIM:136630	Mental retardation, Fra12a type		4
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13		116
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	116
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10		78
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	78
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	63
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25		27
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	27
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18		62
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	62
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	21
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	542
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3		527
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	527
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	18
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	73
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	104
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34		2
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	2
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	167
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive	.	217
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21		44
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	44
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional	65
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2		257
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2		257
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	79
HP:0002205	HP:0011948	Recurrent acute respiratory tract infection	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0002205	HP:0004891	Recurrent infections due to aspiration	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0002205	HP:0006538	Recurrent bronchopulmonary infections	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0002205	HP:0006538	Recurrent bronchopulmonary infections	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0002205	HP:0011948	Recurrent acute respiratory tract infection	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0002205	HP:0006538	Recurrent bronchopulmonary infections	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis	.	6
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	FCN3 CL E G H	8547	3625	OMIM:613860	FICOLIN 3 DEFICIENCY		1
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria		55
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	FOXJ1 CL E G H	2302	3816	OMIM:618699	CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	FOXJ1 CL E G H	2302	3816	OMIM:618699	CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent	184
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	GAS2L2 CL E G H	246176	24846	OMIM:618449	Ciliary dyskinesia, primary, 41		1
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	1
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33		9
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33		9
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	9
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	56
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum		52
HP:0002205	HP:0006538	Recurrent bronchopulmonary infections	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0002205	HP:0006538	Recurrent bronchopulmonary infections	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.	86
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis		4
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis		2
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	.	45
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5		21
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5		21
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	21
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency		32
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent	86
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent	86
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51		196
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0002205	HP:0005366	Recurrent streptococcus pneumoniae infections	1	IRAK4 CL E G H	51135	17967	ORPHA:70592	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency	HP:0040281 - Very frequent	58
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency		4
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome		3
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome		13
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41		13
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	KRT5 CL E G H	3852	6442	OMIM:619599	EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D		173
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040282 - Frequent	411
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional	92
HP:0002205	HP:0006538	Recurrent bronchopulmonary infections	1	LAMTOR2 CL E G H	28956	29796	OMIM:610798	Immunodeficiency due to defect in mapbp-interacting protein	.	1
HP:0002205	HP:0006538	Recurrent bronchopulmonary infections	1	LAMTOR2 CL E G H	28956	29796	ORPHA:90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency	HP:0040281 - Very frequent	1
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction		47
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction	.	47
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040282 - Frequent	47
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency	.	46
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040282 - Frequent	46
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	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:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	MASP2 CL E G H	10747	6902	OMIM:613791	Masp2 deficiency		41
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	MCIDAS CL E G H	345643	40050	OMIM:618695	CILIARY DYSKINESIA, PRIMARY, 42; CILD42		13
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	13
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome		33
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0002205	HP:0006538	Recurrent bronchopulmonary infections	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency		1
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia		5
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040283 - Occasional
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040282 - Frequent
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.	72
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent	706
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome		706
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I		13
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II		67
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	NCF4 CL E G H	4689	7662	OMIM:613960	Chronic granulomatous disease 3, autosomal recessive		37
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	NEK10 CL E G H	152110	18592	OMIM:618781	CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency		7
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency		11
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	NME5 CL E G H	8382	7853	OMIM:620032
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	NME5 CL E G H	8382	7853	OMIM:620032
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6		50
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	50
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	201
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis		3
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0002205	HP:0011948	Recurrent acute respiratory tract infection	1	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0002205	HP:0011948	Recurrent acute respiratory tract infection	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17		759
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.	11
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.	52
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.	52
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature		1129
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature		1129
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency		10
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	.	42
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.	49
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040281 - Very frequent	49
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis		3
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion		53
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0002205	HP:0011948	Recurrent acute respiratory tract infection	1	REEP1 CL E G H	65055	25786	OMIM:620011			87
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.	38
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.	38
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.	26
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.	26
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.	34
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.	34
HP:0002205	HP:0006538	Recurrent bronchopulmonary infections	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	200
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	RPGR CL E G H	6103	10295	OMIM:300455	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS		200
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	RSPH1 CL E G H	89765	12371	OMIM:615481	Ciliary dyskinesia, primary, 24		31
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	31
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	5
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11		58
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	58
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	20
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		67
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		67
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent	67
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		61
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		61
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent	61
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		57
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		57
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent	57
HP:0002205	HP:0011948	Recurrent acute respiratory tract infection	1	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16		61
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.	97
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61		2
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0002205	HP:0011948	Recurrent acute respiratory tract infection	1	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	617
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	87
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	1
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	47
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	14
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28		45
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	45
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	15
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0002205	HP:0004891	Recurrent infections due to aspiration	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040281 - Very frequent	89
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome	.	110
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46		3
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46		3
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	3
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID		1
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID		1
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I		5
HP:0002205	HP:0011948	Recurrent acute respiratory tract infection	1	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I		5
HP:0002205	HP:0011948	Recurrent acute respiratory tract infection	1	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I		17
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I		17
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I		3
HP:0002205	HP:0011948	Recurrent acute respiratory tract infection	1	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I		3
HP:0002205	HP:0006538	Recurrent bronchopulmonary infections	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia	HP:0040281 - Very frequent	271
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome		16
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	82
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0002205	HP:0006538	Recurrent bronchopulmonary infections	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis	.	13
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form		103
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency		32
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	TNFRSF13B CL E G H	23495	18153	OMIM:609529	Immunoglobulin A deficiency 2	.	32
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency		12
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome		131
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency		1
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040281 - Very frequent
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5		44
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5		44
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0002205	HP:0006538	Recurrent bronchopulmonary infections	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0002205	HP:0006538	Recurrent bronchopulmonary infections	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4		95
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0002205	HP:0002788	Recurrent upper respiratory tract infections	1	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0002205	HP:0005425	Recurrent sinopulmonary infections	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	20
HP:0002205	HP:0002783	Recurrent lower respiratory tract infections	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0002205	HP:0031949	Recurrent bacterial upper respiratory tract infections	2	CL E G H
HP:0002205	HP:0006532	Recurrent pneumonia	2	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional	15
HP:0002205	HP:0011108	Recurrent sinusitis	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0002205	HP:0006532	Recurrent pneumonia	2	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0002205	HP:0006532	Recurrent pneumonia	2	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0002205	HP:0011108	Recurrent sinusitis	2	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0002205	HP:0200117	Recurrent upper and lower respiratory tract infections	2	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2	.	58
HP:0002205	HP:0011950	Bronchiolitis	2	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0002205	HP:0100776	Recurrent pharyngitis	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0002205	HP:0006532	Recurrent pneumonia	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0002205	HP:0006532	Recurrent pneumonia	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0002205	HP:0011108	Recurrent sinusitis	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0002205	HP:0006532	Recurrent pneumonia	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0002205	HP:0006532	Recurrent pneumonia	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0002205	HP:0006532	Recurrent pneumonia	2	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0002205	HP:0002837	Recurrent bronchitis	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0002205	HP:0006532	Recurrent pneumonia	2	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME		38
HP:0002205	HP:0006532	Recurrent pneumonia	2	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive	.	4
HP:0002205	HP:0011108	Recurrent sinusitis	2	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0002205	HP:0006532	Recurrent pneumonia	2	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0002205	HP:0006532	Recurrent pneumonia	2	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040281 - Very frequent	109
HP:0002205	HP:0006532	Recurrent pneumonia	2	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive		92
HP:0002205	HP:0011108	Recurrent sinusitis	2	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency		1
HP:0002205	HP:0006532	Recurrent pneumonia	2	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency		1
HP:0002205	HP:0006532	Recurrent pneumonia	2	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0002205	HP:0006532	Recurrent pneumonia	2	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0002205	HP:0006532	Recurrent pneumonia	2	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0002205	HP:0006532	Recurrent pneumonia	2	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0002205	HP:0011108	Recurrent sinusitis	2	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27	.	23
HP:0002205	HP:0002837	Recurrent bronchitis	2	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	38
HP:0002205	HP:0006532	Recurrent pneumonia	2	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2	.	38
HP:0002205	HP:0002837	Recurrent bronchitis	2	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0002205	HP:0011108	Recurrent sinusitis	2	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0002205	HP:0011108	Recurrent sinusitis	2	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0002205	HP:0006532	Recurrent pneumonia	2	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0002205	HP:0006532	Recurrent pneumonia	2	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	8
HP:0002205	HP:0006532	Recurrent pneumonia	2	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0002205	HP:0006532	Recurrent pneumonia	2	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	18
HP:0002205	HP:0006532	Recurrent pneumonia	2	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	24
HP:0002205	HP:0002837	Recurrent bronchitis	2	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive	.	9
HP:0002205	HP:0006532	Recurrent pneumonia	2	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive	.	6
HP:0002205	HP:0002837	Recurrent bronchitis	2	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive	.	6
HP:0002205	HP:0002837	Recurrent bronchitis	2	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0002205	HP:0011108	Recurrent sinusitis	2	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0002205	HP:0006532	Recurrent pneumonia	2	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial	.
HP:0002205	HP:0011108	Recurrent sinusitis	2	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency	.	57
HP:0002205	HP:0006532	Recurrent pneumonia	2	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0002205	HP:0006532	Recurrent pneumonia	2	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0002205	HP:0006532	Recurrent pneumonia	2	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.	222
HP:0002205	HP:0011108	Recurrent sinusitis	2	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0002205	HP:0011108	Recurrent sinusitis	2	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0002205	HP:0002837	Recurrent bronchitis	2	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0002205	HP:0002837	Recurrent bronchitis	2	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0002205	HP:0006532	Recurrent pneumonia	2	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2	.	10
HP:0002205	HP:0011108	Recurrent sinusitis	2	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0002205	HP:0006532	Recurrent pneumonia	2	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040282 - Frequent	9
HP:0002205	HP:0006532	Recurrent pneumonia	2	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	.	27
HP:0002205	HP:0006532	Recurrent pneumonia	2	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked	.	111
HP:0002205	HP:0006532	Recurrent pneumonia	2	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002205	HP:0200117	Recurrent upper and lower respiratory tract infections	2	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency	HP:0040282 - Frequent	94
HP:0002205	HP:0006532	Recurrent pneumonia	2	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0002205	HP:0011108	Recurrent sinusitis	2	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13		116
HP:0002205	HP:0002837	Recurrent bronchitis	2	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13	.	116
HP:0002205	HP:0011108	Recurrent sinusitis	2	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19	.
HP:0002205	HP:0011108	Recurrent sinusitis	2	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10		78
HP:0002205	HP:0011108	Recurrent sinusitis	2	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25	.	27
HP:0002205	HP:0011108	Recurrent sinusitis	2	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	.	62
HP:0002205	HP:0011108	Recurrent sinusitis	2	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked	.
HP:0002205	HP:0006532	Recurrent pneumonia	2	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0002205	HP:0011108	Recurrent sinusitis	2	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3		527
HP:0002205	HP:0002837	Recurrent bronchitis	2	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0002205	HP:0011108	Recurrent sinusitis	2	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0002205	HP:0002837	Recurrent bronchitis	2	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34		2
HP:0002205	HP:0011108	Recurrent sinusitis	2	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34		2
HP:0002205	HP:0006532	Recurrent pneumonia	2	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0002205	HP:0011108	Recurrent sinusitis	2	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040281 - Very frequent	217
HP:0002205	HP:0006532	Recurrent pneumonia	2	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0002205	HP:0011108	Recurrent sinusitis	2	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0002205	HP:0006532	Recurrent pneumonia	2	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21		44
HP:0002205	HP:0006532	Recurrent pneumonia	2	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	4
HP:0002205	HP:0006532	Recurrent pneumonia	2	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	45
HP:0002205	HP:0002837	Recurrent bronchitis	2	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2		257
HP:0002205	HP:0006532	Recurrent pneumonia	2	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2	.	257
HP:0002205	HP:0011950	Bronchiolitis	2	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0002205	HP:0006532	Recurrent pneumonia	2	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0002205	HP:0006532	Recurrent pneumonia	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0002205	HP:0011950	Bronchiolitis	2	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0002205	HP:0006532	Recurrent pneumonia	2	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	63
HP:0002205	HP:0006532	Recurrent pneumonia	2	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0002205	HP:0006532	Recurrent pneumonia	2	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0002205	HP:0011108	Recurrent sinusitis	2	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0002205	HP:0033166	Recurrent viral upper respiratory tract infections	2	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0002205	HP:0002837	Recurrent bronchitis	2	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0002205	HP:0006532	Recurrent pneumonia	2	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0002205	HP:0006532	Recurrent pneumonia	2	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria	.	55
HP:0002205	HP:0006532	Recurrent pneumonia	2	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0002205	HP:0011108	Recurrent sinusitis	2	GAS2L2 CL E G H	246176	24846	OMIM:618449	Ciliary dyskinesia, primary, 41		1
HP:0002205	HP:0006532	Recurrent pneumonia	2	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33		9
HP:0002205	HP:0002837	Recurrent bronchitis	2	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33		9
HP:0002205	HP:0200117	Recurrent upper and lower respiratory tract infections	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0002205	HP:0006532	Recurrent pneumonia	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0002205	HP:0002837	Recurrent bronchitis	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0002205	HP:0100776	Recurrent pharyngitis	2	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0002205	HP:0100776	Recurrent pharyngitis	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0002205	HP:0006532	Recurrent pneumonia	2	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5		21
HP:0002205	HP:0011108	Recurrent sinusitis	2	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5	.	21
HP:0002205	HP:0002837	Recurrent bronchitis	2	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0002205	HP:0002837	Recurrent bronchitis	2	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	.	32
HP:0002205	HP:0011108	Recurrent sinusitis	2	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	.	32
HP:0002205	HP:0006532	Recurrent pneumonia	2	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	.	32
HP:0002205	HP:0002837	Recurrent bronchitis	2	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0002205	HP:0011108	Recurrent sinusitis	2	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0002205	HP:0006532	Recurrent pneumonia	2	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2	.	32
HP:0002205	HP:0006532	Recurrent pneumonia	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0002205	HP:0006532	Recurrent pneumonia	2	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0002205	HP:0033166	Recurrent viral upper respiratory tract infections	2	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0002205	HP:0006532	Recurrent pneumonia	2	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0002205	HP:0006532	Recurrent pneumonia	2	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0002205	HP:0006532	Recurrent pneumonia	2	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0002205	HP:0006532	Recurrent pneumonia	2	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0002205	HP:0011108	Recurrent sinusitis	2	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0002205	HP:0006532	Recurrent pneumonia	2	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0002205	HP:0006532	Recurrent pneumonia	2	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive	.	3
HP:0002205	HP:0011108	Recurrent sinusitis	2	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0002205	HP:0002837	Recurrent bronchitis	2	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0002205	HP:0011108	Recurrent sinusitis	2	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51		196
HP:0002205	HP:0002837	Recurrent bronchitis	2	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51		196
HP:0002205	HP:0011108	Recurrent sinusitis	2	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0002205	HP:0006532	Recurrent pneumonia	2	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0002205	HP:0002837	Recurrent bronchitis	2	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked	.	48
HP:0002205	HP:0006532	Recurrent pneumonia	2	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0002205	HP:0006532	Recurrent pneumonia	2	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0002205	HP:0006532	Recurrent pneumonia	2	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0002205	HP:0002837	Recurrent bronchitis	2	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	4
HP:0002205	HP:0011108	Recurrent sinusitis	2	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0002205	HP:0011108	Recurrent sinusitis	2	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0002205	HP:0006532	Recurrent pneumonia	2	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040283 - Occasional	140
HP:0002205	HP:0006532	Recurrent pneumonia	2	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0002205	HP:0006532	Recurrent pneumonia	2	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040283 - Occasional	13
HP:0002205	HP:0006532	Recurrent pneumonia	2	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41		13
HP:0002205	HP:0006532	Recurrent pneumonia	2	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0002205	HP:0006532	Recurrent pneumonia	2	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction	.	47
HP:0002205	HP:0006532	Recurrent pneumonia	2	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0002205	HP:0011108	Recurrent sinusitis	2	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002205	HP:0006532	Recurrent pneumonia	2	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002205	HP:0006532	Recurrent pneumonia	2	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional
HP:0002205	HP:0011108	Recurrent sinusitis	2	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0002205	HP:0002837	Recurrent bronchitis	2	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0002205	HP:0006532	Recurrent pneumonia	2	MASP2 CL E G H	10747	6902	OMIM:613791	Masp2 deficiency		41
HP:0002205	HP:0011108	Recurrent sinusitis	2	MCIDAS CL E G H	345643	40050	OMIM:618695	CILIARY DYSKINESIA, PRIMARY, 42; CILD42		13
HP:0002205	HP:0200117	Recurrent upper and lower respiratory tract infections	2	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0002205	HP:0011108	Recurrent sinusitis	2	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0002205	HP:0006532	Recurrent pneumonia	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0002205	HP:0200117	Recurrent upper and lower respiratory tract infections	2	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0002205	HP:0002837	Recurrent bronchitis	2	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0002205	HP:0011108	Recurrent sinusitis	2	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040282 - Frequent	33
HP:0002205	HP:0002837	Recurrent bronchitis	2	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0002205	HP:0006532	Recurrent pneumonia	2	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.	5
HP:0002205	HP:0002837	Recurrent bronchitis	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0002205	HP:0006532	Recurrent pneumonia	2	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent	706
HP:0002205	HP:0006532	Recurrent pneumonia	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0002205	HP:0006532	Recurrent pneumonia	2	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I	.	13
HP:0002205	HP:0006532	Recurrent pneumonia	2	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II	.	67
HP:0002205	HP:0011108	Recurrent sinusitis	2	NCF4 CL E G H	4689	7662	OMIM:613960	Chronic granulomatous disease 3, autosomal recessive	.	37
HP:0002205	HP:0011108	Recurrent sinusitis	2	NEK10 CL E G H	152110	18592	OMIM:618781	CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0002205	HP:0002837	Recurrent bronchitis	2	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	7
HP:0002205	HP:0011108	Recurrent sinusitis	2	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0002205	HP:0006532	Recurrent pneumonia	2	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0002205	HP:0002837	Recurrent bronchitis	2	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	11
HP:0002205	HP:0006532	Recurrent pneumonia	2	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0002205	HP:0002837	Recurrent bronchitis	2	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0002205	HP:0100776	Recurrent pharyngitis	2	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0002205	HP:0011108	Recurrent sinusitis	2	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0002205	HP:0033166	Recurrent viral upper respiratory tract infections	2	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0002205	HP:0011108	Recurrent sinusitis	2	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0002205	HP:0006532	Recurrent pneumonia	2	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0002205	HP:0006532	Recurrent pneumonia	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional	51
HP:0002205	HP:0006532	Recurrent pneumonia	2	NME5 CL E G H	8382	7853	OMIM:620032
HP:0002205	HP:0011108	Recurrent sinusitis	2	NME5 CL E G H	8382	7853	OMIM:620032
HP:0002205	HP:0011108	Recurrent sinusitis	2	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6	.	50
HP:0002205	HP:0006532	Recurrent pneumonia	2	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	.
HP:0002205	HP:0011108	Recurrent sinusitis	2	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	.
HP:0002205	HP:0011108	Recurrent sinusitis	2	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0002205	HP:0006532	Recurrent pneumonia	2	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0002205	HP:0006532	Recurrent pneumonia	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0002205	HP:0100776	Recurrent pharyngitis	2	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0002205	HP:0006532	Recurrent pneumonia	2	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0002205	HP:0006532	Recurrent pneumonia	2	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0002205	HP:0006532	Recurrent pneumonia	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0002205	HP:0006532	Recurrent pneumonia	2	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0002205	HP:0011108	Recurrent sinusitis	2	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0002205	HP:0006532	Recurrent pneumonia	2	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	563
HP:0002205	HP:0006532	Recurrent pneumonia	2	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040283 - Occasional	107
HP:0002205	HP:0011950	Bronchiolitis	2	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	.	21
HP:0002205	HP:0011950	Bronchiolitis	2	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040284 - Very rare	759
HP:0002205	HP:0006532	Recurrent pneumonia	2	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.	105
HP:0002205	HP:0006532	Recurrent pneumonia	2	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040284 - Very rare	105
HP:0002205	HP:0006532	Recurrent pneumonia	2	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0002205	HP:0011108	Recurrent sinusitis	2	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0002205	HP:0002837	Recurrent bronchitis	2	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0002205	HP:0011108	Recurrent sinusitis	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0002205	HP:0100776	Recurrent pharyngitis	2	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0002205	HP:0006532	Recurrent pneumonia	2	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040283 - Occasional	53
HP:0002205	HP:0006532	Recurrent pneumonia	2	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0002205	HP:0006532	Recurrent pneumonia	2	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional	3
HP:0002205	HP:0011108	Recurrent sinusitis	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0002205	HP:0006532	Recurrent pneumonia	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0002205	HP:0200117	Recurrent upper and lower respiratory tract infections	2	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	127
HP:0002205	HP:0200117	Recurrent upper and lower respiratory tract infections	2	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	50
HP:0002205	HP:0006532	Recurrent pneumonia	2	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040282 - Frequent	7
HP:0002205	HP:0011108	Recurrent sinusitis	2	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040282 - Frequent	7
HP:0002205	HP:0006532	Recurrent pneumonia	2	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.	15
HP:0002205	HP:0006532	Recurrent pneumonia	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0002205	HP:0002837	Recurrent bronchitis	2	RPGR CL E G H	6103	10295	OMIM:300455	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS		200
HP:0002205	HP:0011108	Recurrent sinusitis	2	RSPH1 CL E G H	89765	12371	OMIM:615481	Ciliary dyskinesia, primary, 24	.	31
HP:0002205	HP:0011108	Recurrent sinusitis	2	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11		58
HP:0002205	HP:0011108	Recurrent sinusitis	2	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0002205	HP:0200117	Recurrent upper and lower respiratory tract infections	2	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040282 - Frequent	67
HP:0002205	HP:0200117	Recurrent upper and lower respiratory tract infections	2	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040282 - Frequent	61
HP:0002205	HP:0200117	Recurrent upper and lower respiratory tract infections	2	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040282 - Frequent	57
HP:0002205	HP:0011950	Bronchiolitis	2	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16	.	61
HP:0002205	HP:0006532	Recurrent pneumonia	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0002205	HP:0006532	Recurrent pneumonia	2	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0002205	HP:0100776	Recurrent pharyngitis	2	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	37
HP:0002205	HP:0011108	Recurrent sinusitis	2	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61	.	2
HP:0002205	HP:0006532	Recurrent pneumonia	2	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0002205	HP:0100776	Recurrent pharyngitis	2	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0002205	HP:0011950	Bronchiolitis	2	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0002205	HP:0006532	Recurrent pneumonia	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0002205	HP:0002837	Recurrent bronchitis	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0002205	HP:0006532	Recurrent pneumonia	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0002205	HP:0006532	Recurrent pneumonia	2	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0002205	HP:0011108	Recurrent sinusitis	2	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28	.	45
HP:0002205	HP:0011108	Recurrent sinusitis	2	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0002205	HP:0006532	Recurrent pneumonia	2	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	HP:0040283 - Occasional	1
HP:0002205	HP:0006532	Recurrent pneumonia	2	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0002205	HP:0006532	Recurrent pneumonia	2	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46		3
HP:0002205	HP:0011108	Recurrent sinusitis	2	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46		3
HP:0002205	HP:0011108	Recurrent sinusitis	2	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0002205	HP:0002837	Recurrent bronchitis	2	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0002205	HP:0011950	Bronchiolitis	2	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I	.	5
HP:0002205	HP:0002837	Recurrent bronchitis	2	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I	.	5
HP:0002205	HP:0002837	Recurrent bronchitis	2	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I	.	17
HP:0002205	HP:0011950	Bronchiolitis	2	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I	.	17
HP:0002205	HP:0002837	Recurrent bronchitis	2	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I	.	3
HP:0002205	HP:0011950	Bronchiolitis	2	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I	.	3
HP:0002205	HP:0006532	Recurrent pneumonia	2	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040284 - Very rare	16
HP:0002205	HP:0006532	Recurrent pneumonia	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0002205	HP:0011108	Recurrent sinusitis	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0002205	HP:0006532	Recurrent pneumonia	2	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0002205	HP:0006532	Recurrent pneumonia	2	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0002205	HP:0006532	Recurrent pneumonia	2	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent	103
HP:0002205	HP:0011108	Recurrent sinusitis	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0002205	HP:0006532	Recurrent pneumonia	2	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0002205	HP:0002837	Recurrent bronchitis	2	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0002205	HP:0011108	Recurrent sinusitis	2	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0002205	HP:0002837	Recurrent bronchitis	2	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0002205	HP:0006532	Recurrent pneumonia	2	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2	.	32
HP:0002205	HP:0002837	Recurrent bronchitis	2	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	12
HP:0002205	HP:0011108	Recurrent sinusitis	2	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0002205	HP:0006532	Recurrent pneumonia	2	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2	.	12
HP:0002205	HP:0002837	Recurrent bronchitis	2	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0002205	HP:0006532	Recurrent pneumonia	2	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0002205	HP:0011108	Recurrent sinusitis	2	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0002205	HP:0100776	Recurrent pharyngitis	2	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional	131
HP:0002205	HP:0002837	Recurrent bronchitis	2	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0002205	HP:0006532	Recurrent pneumonia	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0002205	HP:0006532	Recurrent pneumonia	2	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0002205	HP:0011108	Recurrent sinusitis	2	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0002205	HP:0200117	Recurrent upper and lower respiratory tract infections	2	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5	.	44
HP:0002205	HP:0006532	Recurrent pneumonia	2	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0002205	HP:0011108	Recurrent sinusitis	2	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0002205	HP:0200117	Recurrent upper and lower respiratory tract infections	2	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0002205	HP:0006532	Recurrent pneumonia	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0002205	HP:0011108	Recurrent sinusitis	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0002205	HP:0006532	Recurrent pneumonia	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0002205	HP:0006532	Recurrent pneumonia	2	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0002205	HP:0006532	Recurrent pneumonia	2	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4	HP:0040283 - Occasional	95
HP:0002205	HP:0006532	Recurrent pneumonia	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0002205	HP:0100776	Recurrent pharyngitis	2	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	81
HP:0002205	HP:0200117	Recurrent upper and lower respiratory tract infections	2	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040282 - Frequent	46
HP:0002205	HP:0006532	Recurrent pneumonia	2	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0002205	HP:0011108	Recurrent sinusitis	2	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22	.	20
HP:0002205	HP:0006532	Recurrent pneumonia	2	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0002205	HP:0100501	Recurrent bronchiolitis	3	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2	.	257
HP:0002205	HP:0100501	Recurrent bronchiolitis	3	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0002205	HP:0033214	Recurrent viral pneumonia	3	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28