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 stomach morphology (HP:0002577)

Parent Node:
Abnormality of the pylorus (HP:0004400)

..Starting node
..Congenital pyloric atresia (HP:0004399)

Term ID:

4399

Name:

Congenital pyloric atresia

Synonym:

Definition:

Congenital atresia of the pylorus.

Comments:

Reference:

HP:0004399

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pyloric stenosis (HP:0002021)

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:0004399	HP:0004399	Congenital pyloric atresia	0	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6		79
HP:0004399	HP:0004399	Congenital pyloric atresia	0	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040281 - Very frequent	79
HP:0004399	HP:0004399	Congenital pyloric atresia	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent	124
HP:0004399	HP:0004399	Congenital pyloric atresia	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0004399	HP:0004399	Congenital pyloric atresia	0	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040281 - Very frequent	124
HP:0004399	HP:0004399	Congenital pyloric atresia	0	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0004399	HP:0004399	Congenital pyloric atresia	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent	759
HP:0004399	HP:0004399	Congenital pyloric atresia	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759

Genes (3) :ITGA6 ITGB4 PLEC

Diseases (5) :OMIM:619817 ORPHA:79403 ORPHA:158684 OMIM:226730 OMIM:612138

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.