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

Parent Node:
Abnormal esophagus morphology (HP:0002031)

Parent Node:
Gastrointestinal duplication (HP:0011140)

..Starting node
..Esophageal duplication (HP:0100681)

Term ID:

100681

Name:

Esophageal duplication

Synonym:

Definition:

A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication.

Comments:

Reference:

HP:0100681

Genes and Diseases:

Child Nodes:

Sister Nodes:

Gastric duplication (HP:0011139)

Intestinal duplication (HP:0100668)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100681	HP:0100681	Esophageal duplication	0	CL E G H

Genes (0) :

Diseases (0) :

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