Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the diaphragm (HP:0000775)help
Grandparent Node:
expandHernia (HP:0100790)help
Parent Node:
expandCongenital diaphragmatic hernia (HP:0000776)help
..Starting node
..expandCentral diaphragmatic hernia (HP:0025195)help
Term ID: 25195
Name: Central diaphragmatic hernia
Synonym: Central hernia
Definition: A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present.
Comments:
Reference: HP:0025195
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandMorgagni diaphragmatic hernia (HP:0025194) help
..expandPosterolateral diaphragmatic hernia (HP:0025193) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025195HP:0025195Central diaphragmatic hernia0PPM1D CL E G H84939277OMIM:617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold22
HP:0025195HP:0025195Central diaphragmatic hernia0SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 387


Genes (2) :PPM1D SMARCB1

Diseases (2) :OMIM:617450 OMIM:614608
 

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