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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: Hernia, Diaphragmatic (D006548)
..Starting node ..Diaphragmatic Hernia 1 (C564188)
Child Nodes:
Sister Nodes:
..Diaphragm, Complete Agenesis Of (C564189)
..Diaphragmatic Hernia 1 (C564188)
..Diaphragmatic Hernia 2 (C565629)
..Diaphragmatic Hernia 3 (C565710)
..Fryns syndrome (C538070)
..Hernia, Diaphragmatic, Traumatic (D006549)
..Hernia, Hiatal (D006551) 3
..Hernias, Diaphragmatic, Congenital (D065630) 7
..Jarcho-Levin syndrome (C537565) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3332
Name:	Diaphragmatic Hernia 1
Definition:
Alternative IDs:
ParentIDs:	MESH:D006548
TreeNumbers:	C23.300.707.500/C564188
Synonyms:
Slim Mappings:	Pathology (anatomical condition)
Reference:	MedGen: C564188 MeSH: C564188 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants