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:0000415	HP:0000415	Abnormality of the choanae	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0000415	HP:0000415	Abnormality of the choanae	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0000415	HP:0000415	Abnormality of the choanae	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0000415	HP:0000415	Abnormality of the choanae	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0000415	HP:0000415	Abnormality of the choanae	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000415	HP:0000415	Abnormality of the choanae	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0000415	HP:0000415	Abnormality of the choanae	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0000415	HP:0000415	Abnormality of the choanae	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0000415	HP:0000415	Abnormality of the choanae	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000415	HP:0000415	Abnormality of the choanae	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0000415	HP:0000415	Abnormality of the choanae	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0000415	HP:0000415	Abnormality of the choanae	0	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1		1003
HP:0000415	HP:0000415	Abnormality of the choanae	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly		200
HP:0000415	HP:0000415	Abnormality of the choanae	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0000415	HP:0000415	Abnormality of the choanae	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0000415	HP:0000415	Abnormality of the choanae	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0000415	HP:0000415	Abnormality of the choanae	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0000415	HP:0000415	Abnormality of the choanae	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0000415	HP:0000415	Abnormality of the choanae	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome		27
HP:0000415	HP:0000415	Abnormality of the choanae	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0000415	HP:0000415	Abnormality of the choanae	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis		59
HP:0000415	HP:0000415	Abnormality of the choanae	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly		22
HP:0000415	HP:0000415	Abnormality of the choanae	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly		3
HP:0000415	HP:0000415	Abnormality of the choanae	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type		48
HP:0000415	HP:0000415	Abnormality of the choanae	0	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy		170
HP:0000415	HP:0000415	Abnormality of the choanae	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0000415	HP:0000415	Abnormality of the choanae	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease		12
HP:0000415	HP:0000415	Abnormality of the choanae	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome		35
HP:0000415	HP:0000415	Abnormality of the choanae	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0000415	HP:0000415	Abnormality of the choanae	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0000415	HP:0000415	Abnormality of the choanae	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0000415	HP:0000415	Abnormality of the choanae	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0000415	HP:0000415	Abnormality of the choanae	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0000415	HP:0000415	Abnormality of the choanae	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0000415	HP:0000415	Abnormality of the choanae	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0000415	HP:0000415	Abnormality of the choanae	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0000415	HP:0000415	Abnormality of the choanae	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0000415	HP:0000415	Abnormality of the choanae	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0000415	HP:0000415	Abnormality of the choanae	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome		114
HP:0000415	HP:0000415	Abnormality of the choanae	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0000415	HP:0000415	Abnormality of the choanae	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly		17
HP:0000415	HP:0000415	Abnormality of the choanae	0	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia		172
HP:0000415	HP:0000415	Abnormality of the choanae	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly		172
HP:0000415	HP:0000415	Abnormality of the choanae	0	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia		172
HP:0000415	HP:0000415	Abnormality of the choanae	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome		172
HP:0000415	HP:0000415	Abnormality of the choanae	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0000415	HP:0000415	Abnormality of the choanae	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome		175
HP:0000415	HP:0000415	Abnormality of the choanae	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0000415	HP:0000415	Abnormality of the choanae	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0000415	HP:0000415	Abnormality of the choanae	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease		175
HP:0000415	HP:0000415	Abnormality of the choanae	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0000415	HP:0000415	Abnormality of the choanae	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0000415	HP:0000415	Abnormality of the choanae	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome		175
HP:0000415	HP:0000415	Abnormality of the choanae	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2		175
HP:0000415	HP:0000415	Abnormality of the choanae	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3		175
HP:0000415	HP:0000415	Abnormality of the choanae	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0000415	HP:0000415	Abnormality of the choanae	0	FGFR3 CL E G H	2261	3690	OMIM:612247	Crouzon syndrome with acanthosis nigricans		145
HP:0000415	HP:0000415	Abnormality of the choanae	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome		145
HP:0000415	HP:0000415	Abnormality of the choanae	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0000415	HP:0000415	Abnormality of the choanae	0	FOXE1 CL E G H	2304	3806	ORPHA:1226	Bamforth-Lazarus syndrome		9
HP:0000415	HP:0000415	Abnormality of the choanae	0	FOXE1 CL E G H	2304	3806	OMIM:241850	Hypothyroidism, athyroidal, with spiky hair and cleft palate		9
HP:0000415	HP:0000415	Abnormality of the choanae	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly		48
HP:0000415	HP:0000415	Abnormality of the choanae	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0000415	HP:0000415	Abnormality of the choanae	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly		2
HP:0000415	HP:0000415	Abnormality of the choanae	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly		173
HP:0000415	HP:0000415	Abnormality of the choanae	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0000415	HP:0000415	Abnormality of the choanae	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0000415	HP:0000415	Abnormality of the choanae	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism		143
HP:0000415	HP:0000415	Abnormality of the choanae	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0000415	HP:0000415	Abnormality of the choanae	0	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures		274
HP:0000415	HP:0000415	Abnormality of the choanae	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0000415	HP:0000415	Abnormality of the choanae	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0000415	HP:0000415	Abnormality of the choanae	0	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome		5
HP:0000415	HP:0000415	Abnormality of the choanae	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0000415	HP:0000415	Abnormality of the choanae	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome		99
HP:0000415	HP:0000415	Abnormality of the choanae	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0000415	HP:0000415	Abnormality of the choanae	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0000415	HP:0000415	Abnormality of the choanae	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0000415	HP:0000415	Abnormality of the choanae	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0000415	HP:0000415	Abnormality of the choanae	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0000415	HP:0000415	Abnormality of the choanae	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0000415	HP:0000415	Abnormality of the choanae	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0000415	HP:0000415	Abnormality of the choanae	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0000415	HP:0000415	Abnormality of the choanae	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0000415	HP:0000415	Abnormality of the choanae	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000415	HP:0000415	Abnormality of the choanae	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0000415	HP:0000415	Abnormality of the choanae	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0000415	HP:0000415	Abnormality of the choanae	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome		40
HP:0000415	HP:0000415	Abnormality of the choanae	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0000415	HP:0000415	Abnormality of the choanae	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0000415	HP:0000415	Abnormality of the choanae	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly		45
HP:0000415	HP:0000415	Abnormality of the choanae	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0000415	HP:0000415	Abnormality of the choanae	0	PAICS CL E G H	10606	8587	OMIM:619859
HP:0000415	HP:0000415	Abnormality of the choanae	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0000415	HP:0000415	Abnormality of the choanae	0	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy
HP:0000415	HP:0000415	Abnormality of the choanae	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0000415	HP:0000415	Abnormality of the choanae	0	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type		8
HP:0000415	HP:0000415	Abnormality of the choanae	0	POLR1A CL E G H	25885	17264	ORPHA:1200	Burn-McKeown syndrome		8
HP:0000415	HP:0000415	Abnormality of the choanae	0	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0000415	HP:0000415	Abnormality of the choanae	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000415	HP:0000415	Abnormality of the choanae	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0000415	HP:0000415	Abnormality of the choanae	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0000415	HP:0000415	Abnormality of the choanae	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0000415	HP:0000415	Abnormality of the choanae	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0000415	HP:0000415	Abnormality of the choanae	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0000415	HP:0000415	Abnormality of the choanae	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0000415	HP:0000415	Abnormality of the choanae	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly		665
HP:0000415	HP:0000415	Abnormality of the choanae	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0000415	HP:0000415	Abnormality of the choanae	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0000415	HP:0000415	Abnormality of the choanae	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type		58
HP:0000415	HP:0000415	Abnormality of the choanae	0	PTPN14 CL E G H	5784	9647	OMIM:613611	Choanal atresia and lymphedema		1
HP:0000415	HP:0000415	Abnormality of the choanae	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0000415	HP:0000415	Abnormality of the choanae	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0000415	HP:0000415	Abnormality of the choanae	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0000415	HP:0000415	Abnormality of the choanae	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0000415	HP:0000415	Abnormality of the choanae	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000415	HP:0000415	Abnormality of the choanae	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0000415	HP:0000415	Abnormality of the choanae	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0000415	HP:0000415	Abnormality of the choanae	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0000415	HP:0000415	Abnormality of the choanae	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10		20
HP:0000415	HP:0000415	Abnormality of the choanae	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000415	HP:0000415	Abnormality of the choanae	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0000415	HP:0000415	Abnormality of the choanae	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0000415	HP:0000415	Abnormality of the choanae	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0000415	HP:0000415	Abnormality of the choanae	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000415	HP:0000415	Abnormality of the choanae	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0000415	HP:0000415	Abnormality of the choanae	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0000415	HP:0000415	Abnormality of the choanae	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0000415	HP:0000415	Abnormality of the choanae	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly		67
HP:0000415	HP:0000415	Abnormality of the choanae	0	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0000415	HP:0000415	Abnormality of the choanae	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly		32
HP:0000415	HP:0000415	Abnormality of the choanae	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0000415	HP:0000415	Abnormality of the choanae	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0000415	HP:0000415	Abnormality of the choanae	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0000415	HP:0000415	Abnormality of the choanae	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0000415	HP:0000415	Abnormality of the choanae	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0000415	HP:0000415	Abnormality of the choanae	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0000415	HP:0000415	Abnormality of the choanae	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0000415	HP:0000415	Abnormality of the choanae	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant		26
HP:0000415	HP:0000415	Abnormality of the choanae	0	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies		6
HP:0000415	HP:0000415	Abnormality of the choanae	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0000415	HP:0000415	Abnormality of the choanae	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly		124
HP:0000415	HP:0000415	Abnormality of the choanae	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0000415	HP:0000415	Abnormality of the choanae	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0000415	HP:0000415	Abnormality of the choanae	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0000415	HP:0000415	Abnormality of the choanae	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0000415	HP:0000415	Abnormality of the choanae	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly		1
HP:0000415	HP:0000415	Abnormality of the choanae	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly		32
HP:0000415	HP:0000415	Abnormality of the choanae	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0000415	HP:0000415	Abnormality of the choanae	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0000415	HP:0000415	Abnormality of the choanae	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0000415	HP:0000415	Abnormality of the choanae	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome		18
HP:0000415	HP:0000415	Abnormality of the choanae	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0000415	HP:0000415	Abnormality of the choanae	0	TXNL4A CL E G H	10907	30551	ORPHA:1200	Burn-McKeown syndrome		19
HP:0000415	HP:0000415	Abnormality of the choanae	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0000415	HP:0000415	Abnormality of the choanae	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000415	HP:0000415	Abnormality of the choanae	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0000415	HP:0000415	Abnormality of the choanae	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0000415	HP:0000415	Abnormality of the choanae	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion		20
HP:0000415	HP:0000415	Abnormality of the choanae	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000415	HP:0000415	Abnormality of the choanae	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive		12
HP:0000415	HP:0000415	Abnormality of the choanae	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0000415	HP:0000415	Abnormality of the choanae	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly		34
HP:0000415	HP:0000415	Abnormality of the choanae	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0000415	HP:0000415	Abnormality of the choanae	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0000415	HP:0000415	Abnormality of the choanae	0	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive		60
HP:0000415	HP:0000453	Choanal atresia	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	88
HP:0000415	HP:0000453	Choanal atresia	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040283 - Occasional	8
HP:0000415	HP:0000453	Choanal atresia	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0000415	HP:0000453	Choanal atresia	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0000415	HP:0000452	Choanal stenosis	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000415	HP:0000453	Choanal atresia	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0000415	HP:0000453	Choanal atresia	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0000415	HP:0000453	Choanal atresia	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0000415	HP:0000453	Choanal atresia	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0000415	HP:0000453	Choanal atresia	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0000415	HP:0000453	Choanal atresia	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0000415	HP:0000453	Choanal atresia	1	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1	HP:0040284 - Very rare	1003
HP:0000415	HP:0000453	Choanal atresia	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	200
HP:0000415	HP:0000452	Choanal stenosis	1	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0000415	HP:0000453	Choanal atresia	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	515
HP:0000415	HP:0000453	Choanal atresia	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0000415	HP:0000453	Choanal atresia	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0000415	HP:0000453	Choanal atresia	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0000415	HP:0000452	Choanal stenosis	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome		27
HP:0000415	HP:0000453	Choanal atresia	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome		27
HP:0000415	HP:0000453	Choanal atresia	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0000415	HP:0000453	Choanal atresia	1	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0000415	HP:0000453	Choanal atresia	1	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	22
HP:0000415	HP:0000453	Choanal atresia	1	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	3
HP:0000415	HP:0000453	Choanal atresia	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0000415	HP:0000453	Choanal atresia	1	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy	HP:0040284 - Very rare	170
HP:0000415	HP:0000453	Choanal atresia	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0000415	HP:0000453	Choanal atresia	1	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040283 - Occasional	12
HP:0000415	HP:0000452	Choanal stenosis	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.	35
HP:0000415	HP:0000453	Choanal atresia	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.	35
HP:0000415	HP:0000453	Choanal atresia	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0000415	HP:0000453	Choanal atresia	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0000415	HP:0000453	Choanal atresia	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0000415	HP:0000453	Choanal atresia	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0000415	HP:0000453	Choanal atresia	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000415	HP:0000453	Choanal atresia	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0000415	HP:0000453	Choanal atresia	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000415	HP:0000453	Choanal atresia	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0000415	HP:0000453	Choanal atresia	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0000415	HP:0000453	Choanal atresia	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0000415	HP:0000453	Choanal atresia	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome		114
HP:0000415	HP:0000452	Choanal stenosis	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome		114
HP:0000415	HP:0000453	Choanal atresia	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	17
HP:0000415	HP:0000453	Choanal atresia	1	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	17
HP:0000415	HP:0000453	Choanal atresia	1	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia	.	172
HP:0000415	HP:0000453	Choanal atresia	1	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	172
HP:0000415	HP:0000453	Choanal atresia	1	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia	HP:0040283 - Occasional	172
HP:0000415	HP:0000452	Choanal stenosis	1	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:0000415	HP:0000453	Choanal atresia	1	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:0000415	HP:0000453	Choanal atresia	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0000415	HP:0000452	Choanal stenosis	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0000415	HP:0000453	Choanal atresia	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0000415	HP:0000452	Choanal stenosis	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0000415	HP:0000453	Choanal atresia	1	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040283 - Occasional	175
HP:0000415	HP:0000453	Choanal atresia	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome	.	175
HP:0000415	HP:0000452	Choanal stenosis	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome	.	175
HP:0000415	HP:0000453	Choanal atresia	1	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040283 - Occasional	175
HP:0000415	HP:0000453	Choanal atresia	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent	175
HP:0000415	HP:0000453	Choanal atresia	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	175
HP:0000415	HP:0000453	Choanal atresia	1	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:0000415	HP:0000452	Choanal stenosis	1	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:0000415	HP:0000453	Choanal atresia	1	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040282 - Frequent	175
HP:0000415	HP:0000453	Choanal atresia	1	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040282 - Frequent	175
HP:0000415	HP:0000452	Choanal stenosis	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0000415	HP:0000453	Choanal atresia	1	FGFR3 CL E G H	2261	3690	OMIM:612247	Crouzon syndrome with acanthosis nigricans	.	145
HP:0000415	HP:0000453	Choanal atresia	1	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040282 - Frequent	145
HP:0000415	HP:0000453	Choanal atresia	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	145
HP:0000415	HP:0000453	Choanal atresia	1	FOXE1 CL E G H	2304	3806	ORPHA:1226	Bamforth-Lazarus syndrome	HP:0040281 - Very frequent	9
HP:0000415	HP:0000453	Choanal atresia	1	FOXE1 CL E G H	2304	3806	OMIM:241850	Hypothyroidism, athyroidal, with spiky hair and cleft palate	.	9
HP:0000415	HP:0000453	Choanal atresia	1	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	48
HP:0000415	HP:0000452	Choanal stenosis	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0000415	HP:0000453	Choanal atresia	1	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	2
HP:0000415	HP:0000453	Choanal atresia	1	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	173
HP:0000415	HP:0000453	Choanal atresia	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0000415	HP:0000453	Choanal atresia	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0000415	HP:0000453	Choanal atresia	1	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	HP:0040283 - Occasional	143
HP:0000415	HP:0000453	Choanal atresia	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0000415	HP:0000453	Choanal atresia	1	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures		274
HP:0000415	HP:0000453	Choanal atresia	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	37
HP:0000415	HP:0000453	Choanal atresia	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0000415	HP:0000453	Choanal atresia	1	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040282 - Frequent	5
HP:0000415	HP:0000453	Choanal atresia	1	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0000415	HP:0000453	Choanal atresia	1	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040283 - Occasional	99
HP:0000415	HP:0000453	Choanal atresia	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0000415	HP:0000453	Choanal atresia	1	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040283 - Occasional	3
HP:0000415	HP:0000453	Choanal atresia	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0000415	HP:0000453	Choanal atresia	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	645
HP:0000415	HP:0000453	Choanal atresia	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0000415	HP:0000453	Choanal atresia	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0000415	HP:0000453	Choanal atresia	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0000415	HP:0000453	Choanal atresia	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional	228
HP:0000415	HP:0000453	Choanal atresia	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0000415	HP:0000452	Choanal stenosis	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000415	HP:0000453	Choanal atresia	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0000415	HP:0000453	Choanal atresia	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0000415	HP:0000452	Choanal stenosis	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0000415	HP:0000453	Choanal atresia	1	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040283 - Occasional	40
HP:0000415	HP:0000453	Choanal atresia	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	494
HP:0000415	HP:0000453	Choanal atresia	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0000415	HP:0000453	Choanal atresia	1	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	45
HP:0000415	HP:0000453	Choanal atresia	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:0000415	HP:0000452	Choanal stenosis	1	PAICS CL E G H	10606	8587	OMIM:619859
HP:0000415	HP:0000453	Choanal atresia	1	PAICS CL E G H	10606	8587	OMIM:619859
HP:0000415	HP:0000453	Choanal atresia	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0000415	HP:0000453	Choanal atresia	1	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy	HP:0040284 - Very rare
HP:0000415	HP:0000453	Choanal atresia	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	11
HP:0000415	HP:0000453	Choanal atresia	1	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type	.	8
HP:0000415	HP:0000453	Choanal atresia	1	POLR1A CL E G H	25885	17264	ORPHA:1200	Burn-McKeown syndrome		8
HP:0000415	HP:0000452	Choanal stenosis	1	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0000415	HP:0000453	Choanal atresia	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0000415	HP:0000453	Choanal atresia	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	38
HP:0000415	HP:0000452	Choanal stenosis	1	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2	.	31
HP:0000415	HP:0000453	Choanal atresia	1	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2	.	31
HP:0000415	HP:0000453	Choanal atresia	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	31
HP:0000415	HP:0000453	Choanal atresia	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0000415	HP:0000452	Choanal stenosis	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0000415	HP:0000452	Choanal stenosis	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0000415	HP:0000453	Choanal atresia	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0000415	HP:0000452	Choanal stenosis	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0000415	HP:0000453	Choanal atresia	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0000415	HP:0000453	Choanal atresia	1	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	665
HP:0000415	HP:0000452	Choanal stenosis	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0000415	HP:0000453	Choanal atresia	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0000415	HP:0000453	Choanal atresia	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent	6
HP:0000415	HP:0000453	Choanal atresia	1	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.	58
HP:0000415	HP:0000452	Choanal stenosis	1	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.	58
HP:0000415	HP:0000453	Choanal atresia	1	PTPN14 CL E G H	5784	9647	OMIM:613611	Choanal atresia and lymphedema	.	1
HP:0000415	HP:0000453	Choanal atresia	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	25
HP:0000415	HP:0000453	Choanal atresia	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0000415	HP:0000453	Choanal atresia	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0000415	HP:0000452	Choanal stenosis	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0000415	HP:0000453	Choanal atresia	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000415	HP:0000453	Choanal atresia	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0000415	HP:0000453	Choanal atresia	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0000415	HP:0000453	Choanal atresia	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.	22
HP:0000415	HP:0000453	Choanal atresia	1	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional	20
HP:0000415	HP:0000453	Choanal atresia	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000415	HP:0000453	Choanal atresia	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0000415	HP:0000452	Choanal stenosis	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0000415	HP:0000453	Choanal atresia	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0000415	HP:0000452	Choanal stenosis	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0000415	HP:0000453	Choanal atresia	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000415	HP:0000453	Choanal atresia	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	16
HP:0000415	HP:0000452	Choanal stenosis	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0000415	HP:0000452	Choanal stenosis	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0000415	HP:0000453	Choanal atresia	1	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	67
HP:0000415	HP:0000453	Choanal atresia	1	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0000415	HP:0000453	Choanal atresia	1	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	32
HP:0000415	HP:0000453	Choanal atresia	1	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0000415	HP:0000453	Choanal atresia	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0000415	HP:0000453	Choanal atresia	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0000415	HP:0000453	Choanal atresia	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	135
HP:0000415	HP:0000453	Choanal atresia	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0000415	HP:0000453	Choanal atresia	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	91
HP:0000415	HP:0000453	Choanal atresia	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome	.	174
HP:0000415	HP:0000452	Choanal stenosis	1	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.	26
HP:0000415	HP:0000453	Choanal atresia	1	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies	.	6
HP:0000415	HP:0000453	Choanal atresia	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	50
HP:0000415	HP:0000453	Choanal atresia	1	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	124
HP:0000415	HP:0000453	Choanal atresia	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0000415	HP:0000453	Choanal atresia	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0000415	HP:0000453	Choanal atresia	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	140
HP:0000415	HP:0000453	Choanal atresia	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0000415	HP:0000453	Choanal atresia	1	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	1
HP:0000415	HP:0000453	Choanal atresia	1	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	32
HP:0000415	HP:0000453	Choanal atresia	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0000415	HP:0000453	Choanal atresia	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0000415	HP:0000453	Choanal atresia	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional	140
HP:0000415	HP:0000453	Choanal atresia	1	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18
HP:0000415	HP:0000453	Choanal atresia	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19
HP:0000415	HP:0000453	Choanal atresia	1	TXNL4A CL E G H	10907	30551	ORPHA:1200	Burn-McKeown syndrome		19
HP:0000415	HP:0000452	Choanal stenosis	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0000415	HP:0000453	Choanal atresia	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0000415	HP:0000453	Choanal atresia	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000415	HP:0000453	Choanal atresia	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0000415	HP:0000453	Choanal atresia	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040282 - Frequent	27
HP:0000415	HP:0000453	Choanal atresia	1	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040283 - Occasional	20
HP:0000415	HP:0000453	Choanal atresia	1	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000415	HP:0000453	Choanal atresia	1	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.	12
HP:0000415	HP:0000453	Choanal atresia	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0000415	HP:0000453	Choanal atresia	1	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	34
HP:0000415	HP:0000453	Choanal atresia	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	83
HP:0000415	HP:0000453	Choanal atresia	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0000415	HP:0000453	Choanal atresia	1	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive	.	60
HP:0000415	HP:0011820	Membranous choanal atresia	2	CL E G H
HP:0000415	HP:0200138	Bilateral choanal atresia/stenosis	2	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0000415	HP:0004502	Bilateral choanal atresia	2	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome		27
HP:0000415	HP:0004502	Bilateral choanal atresia	2	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome		114
HP:0000415	HP:0200138	Bilateral choanal atresia/stenosis	2	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0000415	HP:0004502	Bilateral choanal atresia	2	PAICS CL E G H	10606	8587	OMIM:619859
HP:0000415	HP:0004502	Bilateral choanal atresia	2	POLR1A CL E G H	25885	17264	ORPHA:1200	Burn-McKeown syndrome	HP:0040281 - Very frequent	8
HP:0000415	HP:0004502	Bilateral choanal atresia	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0000415	HP:0004502	Bilateral choanal atresia	2	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0000415	HP:0004502	Bilateral choanal atresia	2	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19
HP:0000415	HP:0200138	Bilateral choanal atresia/stenosis	2	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19
HP:0000415	HP:0004502	Bilateral choanal atresia	2	TXNL4A CL E G H	10907	30551	ORPHA:1200	Burn-McKeown syndrome	HP:0040281 - Very frequent	19
HP:0000415	HP:0200138	Bilateral choanal atresia/stenosis	3	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0000415	HP:0200138	Bilateral choanal atresia/stenosis	3	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0000415	HP:0200138	Bilateral choanal atresia/stenosis	3	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19