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:
Abnormal tracheobronchial morphology (HP:0005607)

Parent Node:
Abnormal esophagus morphology (HP:0002031)

Parent Node:
Abnormal tracheal morphology (HP:0002778)

..Starting node
..Tracheoesophageal fistula (HP:0002575)

Term ID:

2575

Name:

Tracheoesophageal fistula

Synonym:

Abnormal connection between trachea and esophagus; Abnormal connection between trachea and oesophagus

Definition:

An abnormal connection (fistula) between the esophagus and the trachea.

Comments:

Reference:

HP:0002575

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anomalous tracheal cartilage (HP:0004468)

Diverticulosis of trachea (HP:0006509)

Neoplasm of the trachea (HP:0100551)

Tracheal calcification (HP:0002787)

Tracheal cartilaginous sleeve (HP:0005347)

Tracheal stenosis (HP:0002777)

Tracheomalacia (HP:0002779)

Tracheomegaly (HP:0010778)

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:0002575	HP:0002575	Tracheoesophageal fistula	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	160
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	27
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	111
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	65
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked	.	58
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040281 - Very frequent	58
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	HP:0040283 - Occasional	53
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040283 - Occasional	655
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent	2
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	172
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional	61
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent	1
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	21
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040282 - Frequent	25
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent	4
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	13
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	67
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	37
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	27
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	17
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis	HP:0040283 - Occasional	144
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	12
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	41
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	PAICS CL E G H	10606	8587	OMIM:619859
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	26
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis	HP:0040283 - Occasional	28
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	38
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	31
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	34
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent	572
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	77
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES		2
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0040281 - Very frequent	33
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	33
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	24
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	140
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	48
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	238
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	60
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	1
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	8
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040283 - Occasional	13
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	40
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0002575	HP:0002575	Tracheoesophageal fistula	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked	.	39

Genes (95) :ARNT2 BAZ1B BCL7B BRCA1 BRCA2 BRIP1 BUD23 CHD7 CLIP2 CTC1 CYBA CYBB CYBC1 DKC1 DNAJC30 EIF4H ELN ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN2 FGF20 FGFR1 FKBP6 FOXF1 GFRA1 GREB1L GTF2I GTF2IRD1 GTF2IRD2 HESX1 HOXD13 ITGA8 LIMK1 LMBRD1 MAD2L2 METTL27 MID1 MLXIPL MYCN NCF1 NCF2 NCF4 NHP2 NOP10 NOTCH3 NPM1 OTX2 PAICS PALB2 PARN PDGFRB POLA1 POLR1B POLR1C POLR1D PROKR2 RAD51 RAD51C RET RFC2 RFWD3 RTEL1 SALL1 SEMA3E SLC12A2 SLX4 SOX2 SOX3 STX1A TBL2 TCOF1 TERC TERT TINF2 TMEM270 TYMS UBA2 UBE2T USB1 VPS37D WBP11 WNT7A WNT9B WRAP53 XRCC2 ZIC3

Diseases (30) :ORPHA:3157 ORPHA:904 ORPHA:84 OMIM:214800 ORPHA:138 ORPHA:1775 ORPHA:379 OMIM:300514 OMIM:314390 ORPHA:3412 OMIM:227646 OMIM:614083 ORPHA:115 ORPHA:1848 OMIM:265380 ORPHA:210122 ORPHA:887 OMIM:277380 ORPHA:2745 OMIM:164280 ORPHA:2591 OMIM:619859 OMIM:301030 ORPHA:861 OMIM:107480 OMIM:619083 ORPHA:77298 OMIM:619959 OMIM:619227 ORPHA:2879

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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