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:
Abnormality of the diaphragm (HP:0000775)

Grandparent Node:
Hernia (HP:0100790)

Parent Node:
Congenital diaphragmatic hernia (HP:0000776)

..Starting node
..Morgagni diaphragmatic hernia (HP:0025194)

Term ID:

25194

Name:

Morgagni diaphragmatic hernia

Synonym:

Morgagni hernia

Definition:

An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity.

Comments:

Reference:

HP:0025194

Genes and Diseases:

Child Nodes:

Sister Nodes:

Central diaphragmatic hernia (HP:0025195)

Posterolateral diaphragmatic hernia (HP:0025193)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025194	HP:0025194	Morgagni diaphragmatic hernia	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	20

Genes (1) :RPS26

Diseases (1) :OMIM:613309

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