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:
Abnormality of the small intestine (HP:0002244)

Parent Node:
Abnormal duodenum morphology (HP:0002246)

Parent Node:
Small intestinal stenosis (HP:0012848)

..Starting node
..Duodenal stenosis (HP:0100867)

Term ID:

100867

Name:

Duodenal stenosis

Synonym:

Duodenal stenosis/atresia

Definition:

The narrowing or partial blockage of a portion of the duodenum.

Comments:

Reference:

HP:0100867

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0100867	HP:0100867	Duodenal stenosis	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0100867	HP:0100867	Duodenal stenosis	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0100867	HP:0100867	Duodenal stenosis	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0100867	HP:0100867	Duodenal stenosis	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0100867	HP:0100867	Duodenal stenosis	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0100867	HP:0100867	Duodenal stenosis	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0100867	HP:0100867	Duodenal stenosis	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0100867	HP:0100867	Duodenal stenosis	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0100867	HP:0100867	Duodenal stenosis	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0100867	HP:0100867	Duodenal stenosis	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0100867	HP:0100867	Duodenal stenosis	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0100867	HP:0100867	Duodenal stenosis	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0100867	HP:0100867	Duodenal stenosis	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0100867	HP:0100867	Duodenal stenosis	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0100867	HP:0100867	Duodenal stenosis	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0100867	HP:0100867	Duodenal stenosis	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional	61
HP:0100867	HP:0100867	Duodenal stenosis	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0100867	HP:0100867	Duodenal stenosis	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0100867	HP:0100867	Duodenal stenosis	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0100867	HP:0100867	Duodenal stenosis	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0100867	HP:0100867	Duodenal stenosis	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0100867	HP:0100867	Duodenal stenosis	0	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional	9
HP:0100867	HP:0100867	Duodenal stenosis	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0100867	HP:0100867	Duodenal stenosis	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0100867	HP:0100867	Duodenal stenosis	0	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional	71
HP:0100867	HP:0100867	Duodenal stenosis	0	TTC7A CL E G H	57217	19750	ORPHA:2300	Multiple intestinal atresia	HP:0040281 - Very frequent	26
HP:0100867	HP:0100867	Duodenal stenosis	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0100867	HP:0100867	Duodenal stenosis	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125

Genes (28) :BRCA1 BRCA2 BRIP1 CDC45 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FOXF1 GATA1 MAD2L2 PALB2 RAD51 RAD51C RARB RFWD3 SLX4 STRA6 TTC7A UBE2T XRCC2

Diseases (6) :ORPHA:84 OMIM:617063 ORPHA:210122 OMIM:190685 ORPHA:2470 ORPHA:2300

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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