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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: Digestive System Abnormalities (D004065)
..Starting node ..Diaphragmatic Eventration (D003965)
Child Nodes:
........Lowry Maclean syndrome (C537037)
Sister Nodes:
..Absent duct of Santorini (C535567)
..Acrorenal mandibular syndrome (C535665)
..Acrorenal syndrome recessive (C535666)
..Anus, Imperforate (D001006) 21
..Barrett Esophagus (D001471) 1
..Biliary Atresia (D001656) 2
..Choledochal Cyst (D015529) 2
..Craniosynostosis, anal anomalies, and porokeratosis (C536789)
..Currarino triad (C536221)
..Diaphragmatic Eventration (D003965) 1
..Esophageal Atresia (D004933) 2
..Hirschsprung Disease (D006627) 22
..Intestinal Atresia (D007409) 11
..Meckel Diverticulum (D008467)
..VACTERL Association With Hydrocephalus (C564751)
..Volvulus Of Midgut (C562456)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3331
Name:	Diaphragmatic Eventration
Definition:	A congenital abnormality characterized by the elevation of the DIAPHRAGM dome. It is the result of a thinned diaphragmatic muscle and injured PHRENIC NERVE, allowing the intra-abdominal viscera to push the diaphragm upward against the LUNG.
Alternative IDs:
ParentIDs:	MESH:D004065
TreeNumbers:	C06.198.257 \|C16.131.314.244
Synonyms:	Diaphragm Eventration \|Eventration, Diaphragmatic \|Eventration of Diaphragm
Slim Mappings:	Congenital abnormality\|Digestive system disease
Reference:	MedGen: D003965 MeSH: D003965 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants