Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the nose (HP:0000366)

Parent Node:
Abnormality of the choanae (HP:0000415)

..Starting node
..Choanal atresia (HP:0000453)

Term ID:

453

Name:

Choanal atresia

Synonym:

Blockage of the rear opening of the nasal cavity

Definition:

Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.

Comments:

Reference:

HP:0000453

Genes and Diseases:

Child Nodes:

........

Posterior choanal atresia (HP:0004496)

........

Bilateral choanal atresia (HP:0004502)

................... HP:0200138 Bilateral choanal atresia/stenosis

........

Membranous choanal atresia (HP:0011820)

Sister Nodes:

Choanal stenosis (HP:0000452)

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

Genes (119) :ADGRG1 ANTXR1 ARID1B ARVCF BCR BRCA1 BRCA2 BRD4 BRIP1 CDC45 CDH1 CDON CHD7 COMT CRKL DCHS1 DHCR7 DHODH DISP1 DLL1 EFTUD2 EPCAM ERCC4 ERF FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FGF10 FGF8 FGFR1 FGFR2 FGFR3 FOXE1 FOXH1 GAS1 GLI2 GLI3 GLIS3 GP1BB GRIN2B HDAC8 HIRA IGBP1 IRF6 ITCH JMJD1C LMNA MAD2L2 MAPK1 MBTPS2 MED12 NBN NFIX NIPBL NODAL OFD1 PAICS PALB2 PERCC1 PI4KA POLR1A POLR1B POLR1C POLR1D POR PTCH1 PTDSS1 PTH1R PTPN14 RAD21 RAD51 RAD51C RERE RFWD3 RPL11 RPS26 RREB1 SALL1 SALL4 SEC24C SEMA3E SHH SIX3 SLC12A2 SLC37A4 SLX4 SMC1A SMC3 SMCHD1 SPINT2 SRPX2 SUFU TBX1 TCOF1 TCTN3 TDGF1 TGIF1 TP63 TWIST1 TXNL4A UBE2T UFD1 USP9X WAC WBP11 WNT3 XRCC2 ZIC2 ZMPSTE24 ZNF335

Diseases (89) :ORPHA:98889 ORPHA:2067 OMIM:135900 ORPHA:567 ORPHA:261330 ORPHA:84 ORPHA:199 OMIM:617063 OMIM:119580 ORPHA:280200 ORPHA:138 OMIM:214800 ORPHA:314679 ORPHA:818 OMIM:263750 OMIM:610536 ORPHA:92050 ORPHA:207 OMIM:259775 ORPHA:2363 OMIM:147950 ORPHA:2645 OMIM:101600 OMIM:207410 ORPHA:87 OMIM:101200 OMIM:123790 ORPHA:1555 ORPHA:93259 ORPHA:93260 OMIM:612247 ORPHA:93262 ORPHA:1226 OMIM:241850 OMIM:146510 ORPHA:672 OMIM:610199 OMIM:613970 ORPHA:52055 OMIM:300472 ORPHA:1300 OMIM:613385 ORPHA:228426 ORPHA:1662 ORPHA:2273 ORPHA:93932 OMIM:305450 OMIM:251260 ORPHA:561 OMIM:602535 OMIM:122470 ORPHA:2750 OMIM:619859 OMIM:616462 ORPHA:1200 ORPHA:861 OMIM:613717 OMIM:201750 ORPHA:95699 OMIM:151050 ORPHA:2658 OMIM:156400 OMIM:613611 OMIM:616975 ORPHA:494344 OMIM:612562 OMIM:613309 OMIM:107480 OMIM:607323 OMIM:147250 OMIM:619080 OMIM:619525 OMIM:301044 OMIM:603457 OMIM:270420 OMIM:154500 ORPHA:2753 OMIM:106260 OMIM:604292 ORPHA:1896 OMIM:617746 OMIM:608572 OMIM:300968 ORPHA:480880 ORPHA:284169 OMIM:619227 OMIM:273395 OMIM:275210 OMIM:615095

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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