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	choanal atresia

Disease ID	1166
Disease	choanal atresia
Definition	A congenital abnormality that is characterized by a blocked CHOANAE, the opening between the nose and the NASOPHARYNX. Blockage can be unilateral or bilateral; bony or membranous.
Synonym	atresia choanal atresia of nares atresia, choanal atresias, choanal blockage of the rear opening of the nasal cavity choanal atresia (disorder) choanal atresia (disorder) [ambiguous] choanal atresia [disease/finding] choanal atresia nos choanal atresia nos (disorder) choanal atresia, unspecified choanal atresia, unspecified (disorder) choanal atresias imperforate nares obstruction of the rear opening of the nasal cavity
Orphanet	ORPHANET:137914
DOID	DOID:9574
ICD10	ICD10CM:Q30.0
UMLS	C0008297
MeSH	D002754
SNOMED-CT	SNOMEDCT_US_2016_09_01:204508009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0027962 \| melanocytic nevi \| 1 C0013080 \| trisomy 21 \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:45) 23394 \| ADNP \| 2.279 \| DISEASES 220 \| ALDH1A3 \| 2.263 \| DISEASES 257 \| ALX3 \| 1.953 \| DISEASES 23545 \| ATP6V0A2 \| 2.149 \| DISEASES 51761 \| ATP8A2 \| 3.305 \| DISEASES 55653 \| BCAS4 \| 3.609 \| DISEASES 80114 \| BICC1 \| 2.768 \| DISEASES 1106 \| CHD2 \| 3.292 \| DISEASES 55636 \| CHD7 \| 7.043 \| DISEASES 1366 \| CLDN7 \| 1.838 \| DISEASES 1496 \| CTNNA2 \| 2.757 \| DISEASES 1589 \| CYP21A2 \| 1.133 \| DISEASES 8813 \| DPM1 \| 1.474 \| DISEASES 9343 \| EFTUD2 \| 4.989 \| DISEASES 1999 \| ELF3 \| 2.066 \| DISEASES 2081 \| ERN1 \| 1.696 \| DISEASES 56975 \| FAM20C \| 3.409 \| DISEASES 2200 \| FBN1 \| 1.073 \| DISEASES 2253 \| FGF8 \| 3.13 \| DISEASES 2254 \| FGF9 \| 2.042 \| DISEASES 2260 \| FGFR1 \| 1.636 \| DISEASES 2263 \| FGFR2 \| 3.406 \| DISEASES 2261 \| FGFR3 \| 2.584 \| DISEASES 2304 \| FOXE1 \| 4.827 \| DISEASES 2737 \| GLI3 \| 1.134 \| DISEASES 169792 \| GLIS3 \| 3.203 \| DISEASES 3476 \| IGBP1 \| 2.184 \| DISEASES 84678 \| KDM2B \| 2.823 \| DISEASES 3814 \| KISS1 \| 1.447 \| DISEASES 9968 \| MED12 \| 1.756 \| DISEASES 8510 \| MMP23B \| 2.914 \| DISEASES 4549 \| MT-RNR1 \| 2.483 \| DISEASES 5076 \| PAX2 \| 1.253 \| DISEASES 7849 \| PAX8 \| 1.024 \| DISEASES 5493 \| PPL \| 2.772 \| DISEASES 9939 \| RBM8A \| 1.516 \| DISEASES 65055 \| REEP1 \| 2.537 \| DISEASES 4990 \| SIX6 \| 2.183 \| DISEASES 4184 \| SMCP \| 2.68 \| DISEASES 51429 \| SNX9 \| 2.68 \| DISEASES 6664 \| SOX11 \| 1.959 \| DISEASES 50945 \| TBX22 \| 3.301 \| DISEASES 10732 \| TCFL5 \| 1.932 \| DISEASES 6949 \| TCOF1 \| 2.552 \| DISEASES 63894 \| VIPAS39 \| 3.145 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1166
Disease	choanal atresia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:8) HP:0000078 \| Genital abnormalities \| 2 HP:0002575 \| Tracheoesophageal fistula \| 1 HP:0100033 \| Tic disorder \| 1 HP:0100582 \| Nasal polyps \| 1 HP:0000995 \| Beauty mark \| 1 HP:0004409 \| Decreased smell sensation \| 1 HP:0001742 \| Obstruction of nose \| 1 HP:0001057 \| Aplasia cutis congenita \| 1

Disease ID	1166
Disease	choanal atresia
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894110	12165566	2304	FOXE1	umls:C0008297	BeFree	Such incomplete loss of TTF-2 function may account for the absence of choanal atresia and bifid epiglottis in our patients, anomalies which were present together with CH and cleft palate in two other individuals with the only other, more deleterious, TTF-2 mutation (A65V) described previously.	0.001085767	2002	FOXE1;PTCSC2	9	97854108	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1166
Disease	choanal atresia
Case	(Waiting for update.)

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