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:
Abnormal intestine morphology (HP:0002242)

Grandparent Node:
Gastrointestinal atresia (HP:0002589)

Parent Node:
Abnormal duodenum morphology (HP:0002246)

Parent Node:
Intestinal atresia (HP:0011100)

..Starting node
..Duodenal atresia (HP:0002247)

Term ID:

2247

Name:

Duodenal atresia

Synonym:

Absence or narrowing of first part of small bowel

Definition:

A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.

Comments:

Reference:

HP:0002247

Genes and Diseases:

Child Nodes:

Sister Nodes:

Colonic atresia (HP:0010448)

Ileal atresia (HP:0011102)

Jejunal atresia (HP:0005235)

Multiple small bowel atresias (HP:0004797)

Rectal atresia (HP:0025023)

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:0002247	HP:0002247	Duodenal atresia	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0002247	HP:0002247	Duodenal atresia	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0002247	HP:0002247	Duodenal atresia	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0002247	HP:0002247	Duodenal atresia	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0002247	HP:0002247	Duodenal atresia	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0002247	HP:0002247	Duodenal atresia	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	200
HP:0002247	HP:0002247	Duodenal atresia	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0002247	HP:0002247	Duodenal atresia	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0002247	HP:0002247	Duodenal atresia	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0002247	HP:0002247	Duodenal atresia	0	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0002247	HP:0002247	Duodenal atresia	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0002247	HP:0002247	Duodenal atresia	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	22
HP:0002247	HP:0002247	Duodenal atresia	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	3
HP:0002247	HP:0002247	Duodenal atresia	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040284 - Very rare	134
HP:0002247	HP:0002247	Duodenal atresia	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0002247	HP:0002247	Duodenal atresia	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0002247	HP:0002247	Duodenal atresia	0	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040283 - Occasional	655
HP:0002247	HP:0002247	Duodenal atresia	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	17
HP:0002247	HP:0002247	Duodenal atresia	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	172
HP:0002247	HP:0002247	Duodenal atresia	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional	8
HP:0002247	HP:0002247	Duodenal atresia	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0002247	HP:0002247	Duodenal atresia	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	48
HP:0002247	HP:0002247	Duodenal atresia	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	2
HP:0002247	HP:0002247	Duodenal atresia	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	173
HP:0002247	HP:0002247	Duodenal atresia	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0002247	HP:0002247	Duodenal atresia	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0002247	HP:0002247	Duodenal atresia	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040283 - Occasional	35
HP:0002247	HP:0002247	Duodenal atresia	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0002247	HP:0002247	Duodenal atresia	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	45
HP:0002247	HP:0002247	Duodenal atresia	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional	37
HP:0002247	HP:0002247	Duodenal atresia	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional	20
HP:0002247	HP:0002247	Duodenal atresia	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	665
HP:0002247	HP:0002247	Duodenal 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:0002247	HP:0002247	Duodenal atresia	0	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0002247	HP:0002247	Duodenal atresia	0	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.	28
HP:0002247	HP:0002247	Duodenal atresia	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0002247	HP:0002247	Duodenal atresia	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0002247	HP:0002247	Duodenal atresia	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	67
HP:0002247	HP:0002247	Duodenal atresia	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0002247	HP:0002247	Duodenal atresia	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0002247	HP:0002247	Duodenal atresia	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	124
HP:0002247	HP:0002247	Duodenal atresia	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	1
HP:0002247	HP:0002247	Duodenal atresia	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0002247	HP:0002247	Duodenal atresia	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0002247	HP:0002247	Duodenal atresia	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0002247	HP:0002247	Duodenal atresia	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0002247	HP:0002247	Duodenal atresia	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	34
HP:0002247	HP:0002247	Duodenal atresia	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39

Genes (44) :BUB1 BUB1B BUB3 CAMK2A CDON CENPF CEP57 CFAP45 CHD7 DISP1 DLL1 DYRK1A FANCB FANCF FBN2 FGF8 FGFR1 FLI1 FOXF1 FOXH1 GAS1 GLI2 KDM3B MYCN NODAL PIGN PORCN PTCH1 RERE RFWD3 RFX6 RTTN SALL1 SHH SIX3 STAG2 SUFU TDGF1 TGIF1 TRIP13 TTC7A WBP11 ZIC2 ZIC3

Diseases (29) :ORPHA:1052 OMIM:257300 OMIM:617798 ORPHA:280200 OMIM:243605 OMIM:614114 OMIM:619608 OMIM:214800 ORPHA:464311 OMIM:300514 OMIM:603467 ORPHA:115 ORPHA:2308 OMIM:265380 OMIM:618846 OMIM:164280 ORPHA:391641 OMIM:270100 ORPHA:2059 ORPHA:2092 OMIM:616975 OMIM:617784 OMIM:615710 ORPHA:468631 OMIM:107480 OMIM:301043 OMIM:243150 OMIM:619227 OMIM:306955

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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