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:0000403	HP:0000403	Recurrent otitis media	0	A2ML1 CL E G H	144568	23336	OMIM:166760	Otitis media, susceptibility to		120
HP:0000403	HP:0000403	Recurrent otitis media	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0000403	HP:0000403	Recurrent otitis media	0	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0000403	HP:0000403	Recurrent otitis media	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0000403	HP:0000403	Recurrent otitis media	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0000403	HP:0000403	Recurrent otitis media	0	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36	.	9
HP:0000403	HP:0000403	Recurrent otitis media	0	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1		2
HP:0000403	HP:0000403	Recurrent otitis media	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0000403	HP:0000403	Recurrent otitis media	0	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	6
HP:0000403	HP:0000403	Recurrent otitis media	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0000403	HP:0000403	Recurrent otitis media	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0000403	HP:0000403	Recurrent otitis media	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0000403	HP:0000403	Recurrent otitis media	0	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive	.	4
HP:0000403	HP:0000403	Recurrent otitis media	0	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	38
HP:0000403	HP:0000403	Recurrent otitis media	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0000403	HP:0000403	Recurrent otitis media	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0000403	HP:0000403	Recurrent otitis media	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0000403	HP:0000403	Recurrent otitis media	0	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency		1
HP:0000403	HP:0000403	Recurrent otitis media	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	36
HP:0000403	HP:0000403	Recurrent otitis media	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	126
HP:0000403	HP:0000403	Recurrent otitis media	0	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0000403	HP:0000403	Recurrent otitis media	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	182
HP:0000403	HP:0000403	Recurrent otitis media	0	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27	.	23
HP:0000403	HP:0000403	Recurrent otitis media	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	23
HP:0000403	HP:0000403	Recurrent otitis media	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	23
HP:0000403	HP:0000403	Recurrent otitis media	0	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0000403	HP:0000403	Recurrent otitis media	0	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0000403	HP:0000403	Recurrent otitis media	0	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19	.	18
HP:0000403	HP:0000403	Recurrent otitis media	0	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18	.	24
HP:0000403	HP:0000403	Recurrent otitis media	0	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17	.	19
HP:0000403	HP:0000403	Recurrent otitis media	0	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0000403	HP:0000403	Recurrent otitis media	0	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive	.	9
HP:0000403	HP:0000403	Recurrent otitis media	0	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive	.	6
HP:0000403	HP:0000403	Recurrent otitis media	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000403	HP:0000403	Recurrent otitis media	0	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	1003
HP:0000403	HP:0000403	Recurrent otitis media	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000403	HP:0000403	Recurrent otitis media	0	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0000403	HP:0000403	Recurrent otitis media	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000403	HP:0000403	Recurrent otitis media	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000403	HP:0000403	Recurrent otitis media	0	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0000403	HP:0000403	Recurrent otitis media	0	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency	.	57
HP:0000403	HP:0000403	Recurrent otitis media	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0000403	HP:0000403	Recurrent otitis media	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0000403	HP:0000403	Recurrent otitis media	0	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0000403	HP:0000403	Recurrent otitis media	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000403	HP:0000403	Recurrent otitis media	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000403	HP:0000403	Recurrent otitis media	0	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent
HP:0000403	HP:0000403	Recurrent otitis media	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000403	HP:0000403	Recurrent otitis media	0	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional	1
HP:0000403	HP:0000403	Recurrent otitis media	0	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	1
HP:0000403	HP:0000403	Recurrent otitis media	0	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13	.	116
HP:0000403	HP:0000403	Recurrent otitis media	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	116
HP:0000403	HP:0000403	Recurrent otitis media	0	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19	.
HP:0000403	HP:0000403	Recurrent otitis media	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000403	HP:0000403	Recurrent otitis media	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	78
HP:0000403	HP:0000403	Recurrent otitis media	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	63
HP:0000403	HP:0000403	Recurrent otitis media	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	27
HP:0000403	HP:0000403	Recurrent otitis media	0	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	.	62
HP:0000403	HP:0000403	Recurrent otitis media	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	62
HP:0000403	HP:0000403	Recurrent otitis media	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000403	HP:0000403	Recurrent otitis media	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	21
HP:0000403	HP:0000403	Recurrent otitis media	0	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0000403	HP:0000403	Recurrent otitis media	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	542
HP:0000403	HP:0000403	Recurrent otitis media	0	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3		527
HP:0000403	HP:0000403	Recurrent otitis media	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	527
HP:0000403	HP:0000403	Recurrent otitis media	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	18
HP:0000403	HP:0000403	Recurrent otitis media	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	73
HP:0000403	HP:0000403	Recurrent otitis media	0	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0000403	HP:0000403	Recurrent otitis media	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	104
HP:0000403	HP:0000403	Recurrent otitis media	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	2
HP:0000403	HP:0000403	Recurrent otitis media	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	167
HP:0000403	HP:0000403	Recurrent otitis media	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0000403	HP:0000403	Recurrent otitis media	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0000403	HP:0000403	Recurrent otitis media	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0000403	HP:0000403	Recurrent otitis media	0	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21		44
HP:0000403	HP:0000403	Recurrent otitis media	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	44
HP:0000403	HP:0000403	Recurrent otitis media	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000403	HP:0000403	Recurrent otitis media	0	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0000403	HP:0000403	Recurrent otitis media	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145
HP:0000403	HP:0000403	Recurrent otitis media	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0000403	HP:0000403	Recurrent otitis media	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0000403	HP:0000403	Recurrent otitis media	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040284 - Very rare	30
HP:0000403	HP:0000403	Recurrent otitis media	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0000403	HP:0000403	Recurrent otitis media	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000403	HP:0000403	Recurrent otitis media	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent	184
HP:0000403	HP:0000403	Recurrent otitis media	0	GAS2L2 CL E G H	246176	24846	OMIM:618449	Ciliary dyskinesia, primary, 41		1
HP:0000403	HP:0000403	Recurrent otitis media	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	1
HP:0000403	HP:0000403	Recurrent otitis media	0	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33		9
HP:0000403	HP:0000403	Recurrent otitis media	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	9
HP:0000403	HP:0000403	Recurrent otitis media	0	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0000403	HP:0000403	Recurrent otitis media	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000403	HP:0000403	Recurrent otitis media	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0000403	HP:0000403	Recurrent otitis media	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0000403	HP:0000403	Recurrent otitis media	0	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum	HP:0040283 - Occasional	12
HP:0000403	HP:0000403	Recurrent otitis media	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0000403	HP:0000403	Recurrent otitis media	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000403	HP:0000403	Recurrent otitis media	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000403	HP:0000403	Recurrent otitis media	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0000403	HP:0000403	Recurrent otitis media	0	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0000403	HP:0000403	Recurrent otitis media	0	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5	.	21
HP:0000403	HP:0000403	Recurrent otitis media	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	21
HP:0000403	HP:0000403	Recurrent otitis media	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	.	32
HP:0000403	HP:0000403	Recurrent otitis media	0	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0000403	HP:0000403	Recurrent otitis media	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0000403	HP:0000403	Recurrent otitis media	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0000403	HP:0000403	Recurrent otitis media	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0000403	HP:0000403	Recurrent otitis media	0	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0000403	HP:0000403	Recurrent otitis media	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0000403	HP:0000403	Recurrent otitis media	0	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0000403	HP:0000403	Recurrent otitis media	0	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0000403	HP:0000403	Recurrent otitis media	0	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51		196
HP:0000403	HP:0000403	Recurrent otitis media	0	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0000403	HP:0000403	Recurrent otitis media	0	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity	.
HP:0000403	HP:0000403	Recurrent otitis media	0	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0000403	HP:0000403	Recurrent otitis media	0	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0000403	HP:0000403	Recurrent otitis media	0	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive		94
HP:0000403	HP:0000403	Recurrent otitis media	0	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	99
HP:0000403	HP:0000403	Recurrent otitis media	0	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive	.	8
HP:0000403	HP:0000403	Recurrent otitis media	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0000403	HP:0000403	Recurrent otitis media	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0000403	HP:0000403	Recurrent otitis media	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0000403	HP:0000403	Recurrent otitis media	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000403	HP:0000403	Recurrent otitis media	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0000403	HP:0000403	Recurrent otitis media	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0000403	HP:0000403	Recurrent otitis media	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0000403	HP:0000403	Recurrent otitis media	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0000403	HP:0000403	Recurrent otitis media	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0000403	HP:0000403	Recurrent otitis media	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0000403	HP:0000403	Recurrent otitis media	0	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0000403	HP:0000403	Recurrent otitis media	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0000403	HP:0000403	Recurrent otitis media	0	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0000403	HP:0000403	Recurrent otitis media	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000403	HP:0000403	Recurrent otitis media	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:0000403	HP:0000403	Recurrent otitis media	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.	11
HP:0000403	HP:0000403	Recurrent otitis media	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000403	HP:0000403	Recurrent otitis media	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	13
HP:0000403	HP:0000403	Recurrent otitis media	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000403	HP:0000403	Recurrent otitis media	0	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional	1
HP:0000403	HP:0000403	Recurrent otitis media	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040282 - Frequent	33
HP:0000403	HP:0000403	Recurrent otitis media	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0000403	HP:0000403	Recurrent otitis media	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000403	HP:0000403	Recurrent otitis media	0	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0000403	HP:0000403	Recurrent otitis media	0	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	12
HP:0000403	HP:0000403	Recurrent otitis media	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23
HP:0000403	HP:0000403	Recurrent otitis media	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0000403	HP:0000403	Recurrent otitis media	0	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0000403	HP:0000403	Recurrent otitis media	0	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	4
HP:0000403	HP:0000403	Recurrent otitis media	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000403	HP:0000403	Recurrent otitis media	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0000403	HP:0000403	Recurrent otitis media	0	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0000403	HP:0000403	Recurrent otitis media	0	NME5 CL E G H	8382	7853	OMIM:620032
HP:0000403	HP:0000403	Recurrent otitis media	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	50
HP:0000403	HP:0000403	Recurrent otitis media	0	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	.
HP:0000403	HP:0000403	Recurrent otitis media	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000403	HP:0000403	Recurrent otitis media	0	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0000403	HP:0000403	Recurrent otitis media	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000403	HP:0000403	Recurrent otitis media	0	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	.
HP:0000403	HP:0000403	Recurrent otitis media	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000403	HP:0000403	Recurrent otitis media	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000403	HP:0000403	Recurrent otitis media	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	201
HP:0000403	HP:0000403	Recurrent otitis media	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.	11
HP:0000403	HP:0000403	Recurrent otitis media	0	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	337
HP:0000403	HP:0000403	Recurrent otitis media	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0000403	HP:0000403	Recurrent otitis media	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0000403	HP:0000403	Recurrent otitis media	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0000403	HP:0000403	Recurrent otitis media	0	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0000403	HP:0000403	Recurrent otitis media	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0000403	HP:0000403	Recurrent otitis media	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0000403	HP:0000403	Recurrent otitis media	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0000403	HP:0000403	Recurrent otitis media	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0000403	HP:0000403	Recurrent otitis media	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	4
HP:0000403	HP:0000403	Recurrent otitis media	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0000403	HP:0000403	Recurrent otitis media	0	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:0000403	HP:0000403	Recurrent otitis media	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0000403	HP:0000403	Recurrent otitis media	0	RELB CL E G H	5971	9956	OMIM:617585	Immunodeficiency 53	.	1
HP:0000403	HP:0000403	Recurrent otitis media	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000403	HP:0000403	Recurrent otitis media	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.	15
HP:0000403	HP:0000403	Recurrent otitis media	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0000403	HP:0000403	Recurrent otitis media	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	200
HP:0000403	HP:0000403	Recurrent otitis media	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.	22
HP:0000403	HP:0000403	Recurrent otitis media	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	31
HP:0000403	HP:0000403	Recurrent otitis media	0	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32		5
HP:0000403	HP:0000403	Recurrent otitis media	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	5
HP:0000403	HP:0000403	Recurrent otitis media	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	58
HP:0000403	HP:0000403	Recurrent otitis media	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	20
HP:0000403	HP:0000403	Recurrent otitis media	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000403	HP:0000403	Recurrent otitis media	0	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional
HP:0000403	HP:0000403	Recurrent otitis media	0	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16	.	61
HP:0000403	HP:0000403	Recurrent otitis media	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome	.	60
HP:0000403	HP:0000403	Recurrent otitis media	0	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61	.	2
HP:0000403	HP:0000403	Recurrent otitis media	0	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0000403	HP:0000403	Recurrent otitis media	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0000403	HP:0000403	Recurrent otitis media	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0000403	HP:0000403	Recurrent otitis media	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent	146
HP:0000403	HP:0000403	Recurrent otitis media	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0000403	HP:0000403	Recurrent otitis media	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0000403	HP:0000403	Recurrent otitis media	0	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28	.	45
HP:0000403	HP:0000403	Recurrent otitis media	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	45
HP:0000403	HP:0000403	Recurrent otitis media	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	15
HP:0000403	HP:0000403	Recurrent otitis media	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0000403	HP:0000403	Recurrent otitis media	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0000403	HP:0000403	Recurrent otitis media	0	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46		3
HP:0000403	HP:0000403	Recurrent otitis media	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	3
HP:0000403	HP:0000403	Recurrent otitis media	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0000403	HP:0000403	Recurrent otitis media	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000403	HP:0000403	Recurrent otitis media	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0000403	HP:0000403	Recurrent otitis media	0	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0000403	HP:0000403	Recurrent otitis media	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000403	HP:0000403	Recurrent otitis media	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0000403	HP:0000403	Recurrent otitis media	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0000403	HP:0000403	Recurrent otitis media	0	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0000403	HP:0000403	Recurrent otitis media	0	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0000403	HP:0000403	Recurrent otitis media	0	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000403	HP:0000403	Recurrent otitis media	0	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	140
HP:0000403	HP:0000403	Recurrent otitis media	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140
HP:0000403	HP:0000403	Recurrent otitis media	0	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	HP:0040281 - Very frequent
HP:0000403	HP:0000403	Recurrent otitis media	0	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0000403	HP:0000403	Recurrent otitis media	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000403	HP:0000403	Recurrent otitis media	0	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum	HP:0040283 - Occasional
HP:0000403	HP:0000403	Recurrent otitis media	0	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0000403	HP:0000403	Recurrent otitis media	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0000403	HP:0000403	Recurrent otitis media	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0000403	HP:0000403	Recurrent otitis media	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional	8
HP:0000403	HP:0000403	Recurrent otitis media	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.	8
HP:0000403	HP:0000403	Recurrent otitis media	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0000403	HP:0000403	Recurrent otitis media	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0000403	HP:0000403	Recurrent otitis media	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0000403	HP:0000403	Recurrent otitis media	0	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22	.	20
HP:0000403	HP:0000403	Recurrent otitis media	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	20
HP:0000403	HP:0000403	Recurrent otitis media	0	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive	.	1