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:
Abdominal wall defect (HP:0010866)

Grandparent Node:
Abnormal thorax morphology (HP:0000765)

Parent Node:
Thoracoabdominal wall defect (HP:0100656)

..Starting node
..Thoracoabdominal eventration (HP:0100657)

Term ID:

100657

Name:

Thoracoabdominal eventration

Synonym:

Celosomia; Kelosomia

Definition:

Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls.

Comments:

Reference:

HP:0100657

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100657	HP:0100657	Thoracoabdominal eventration	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.