Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Morphological abnormality of the gastrointestinal tract (HP:0012718)

Parent Node:
Abnormal esophagus morphology (HP:0002031)

Parent Node:
Gastrointestinal atresia (HP:0002589)

..Starting node
..Esophageal atresia (HP:0002032)

Term ID:

2032

Name:

Esophageal atresia

Synonym:

Birth defect in which part of esophagus did not develop; Birth defect in which part of oesophagus did not develop

Definition:

A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.

Comments:

Reference:

HP:0002032

Genes and Diseases:

Child Nodes:

........

Proximal esophageal atresia (HP:0004403)

Sister Nodes:

Intestinal atresia (HP:0011100)

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:0002032	HP:0002032	Esophageal atresia	0	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040283 - Occasional	125
HP:0002032	HP:0002032	Esophageal atresia	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional
HP:0002032	HP:0002032	Esophageal atresia	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0002032	HP:0002032	Esophageal atresia	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	304
HP:0002032	HP:0002032	Esophageal atresia	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0002032	HP:0002032	Esophageal atresia	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0002032	HP:0002032	Esophageal atresia	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	HP:0040283 - Occasional	48
HP:0002032	HP:0002032	Esophageal atresia	0	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q	.	158
HP:0002032	HP:0002032	Esophageal atresia	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0002032	HP:0002032	Esophageal atresia	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked		58
HP:0002032	HP:0002032	Esophageal atresia	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040281 - Very frequent	58
HP:0002032	HP:0002032	Esophageal atresia	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0002032	HP:0002032	Esophageal atresia	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	HP:0040283 - Occasional	53
HP:0002032	HP:0002032	Esophageal atresia	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	172
HP:0002032	HP:0002032	Esophageal atresia	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040283 - Occasional	175
HP:0002032	HP:0002032	Esophageal atresia	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0002032	HP:0002032	Esophageal atresia	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0002032	HP:0002032	Esophageal atresia	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	21
HP:0002032	HP:0002032	Esophageal atresia	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	65
HP:0002032	HP:0002032	Esophageal atresia	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	124
HP:0002032	HP:0002032	Esophageal atresia	0	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040283 - Occasional	5
HP:0002032	HP:0002032	Esophageal atresia	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0002032	HP:0002032	Esophageal atresia	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040282 - Frequent	35
HP:0002032	HP:0002032	Esophageal atresia	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	41
HP:0002032	HP:0002032	Esophageal atresia	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040284 - Very rare	641
HP:0002032	HP:0002032	Esophageal atresia	0	PAICS CL E G H	10606	8587	OMIM:619859
HP:0002032	HP:0002032	Esophageal atresia	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	759
HP:0002032	HP:0002032	Esophageal atresia	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0002032	HP:0002032	Esophageal atresia	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	34
HP:0002032	HP:0002032	Esophageal atresia	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0002032	HP:0002032	Esophageal atresia	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.	20
HP:0002032	HP:0002032	Esophageal atresia	0	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0002032	HP:0002032	Esophageal atresia	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0040281 - Very frequent	33
HP:0002032	HP:0002032	Esophageal atresia	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.	33
HP:0002032	HP:0002032	Esophageal atresia	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	33
HP:0002032	HP:0002032	Esophageal atresia	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	24
HP:0002032	HP:0002032	Esophageal atresia	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0002032	HP:0002032	Esophageal atresia	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	136
HP:0002032	HP:0002032	Esophageal atresia	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0002032	HP:0002032	Esophageal atresia	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked		39
HP:0002032	HP:0004403	Proximal esophageal atresia	1	CL E G H

Genes (34) :AR ARNT2 CHD7 DYNC2H1 DYNC2I1 DYNC2I2 EFTUD2 ERCC4 FANCB FANCD2 FANCL FGFR1 FGFR2 FOXF1 HESX1 IFT80 ITGB4 MAMLD1 MYCN OTX2 PAH PAICS PLEC POLA1 PROKR2 RMRP SIX6 SMARCD1 SOX2 SOX3 WBP11 WDR35 YY1 ZIC3

Diseases (26) :ORPHA:95706 ORPHA:3157 OMIM:214800 ORPHA:93271 OMIM:610536 OMIM:615272 OMIM:300514 OMIM:314390 ORPHA:3412 OMIM:227646 OMIM:614083 ORPHA:87 OMIM:101200 OMIM:265380 OMIM:226730 OMIM:164280 ORPHA:391641 ORPHA:2209 OMIM:619859 OMIM:301030 OMIM:250250 OMIM:206900 OMIM:618779 ORPHA:77298 OMIM:619227 ORPHA:506358

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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