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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

Disease Browser
Parent Node: Hernias, Diaphragmatic, Congenital (D065630)
..Starting node ..Hernia, Anterior Diaphragmatic (C564413)
Child Nodes:
Sister Nodes:
..Donnai-Barrow syndrome (C536390)
..Epidermolysis Bullosa With Diaphragmatic Hernia (C565588)
..Hernia, Anterior Diaphragmatic (C564413)
..Kennerknecht Sorgo Oberhoffer syndrome (C537018)
..Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia (C538340)
..Omphalocele, Diaphragmatic Hernia, And Radial Ray Defects (C563701)
..Saal Bulas syndrome (C537193)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5132

Name:

Hernia, Anterior Diaphragmatic

Definition:

Alternative IDs:

ParentIDs:

MESH:D065630

TreeNumbers:

C16.131.433/C564413 |C23.300.707.500.116/C564413

Synonyms:

Slim Mappings:

Congenital abnormality|Pathology (anatomical condition)

Reference:

MedGen: C564413
MeSH: C564413
OMIM: 306950;

Genes:

Phenotypes

1	HP:0000776	Congenital diaphragmatic hernia
2	HP:0003811	Neonatal death

Disease Causing ClinVar Variants