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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: Eye Diseases, Hereditary (D015785)
Parent Node: Hernia, Umbilical (D006554)
Parent Node: Hernias, Diaphragmatic, Congenital (D065630)
..Starting node ..Omphalocele, Diaphragmatic Hernia, And Radial Ray Defects (C563701)
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:	8234
Name:	Omphalocele, Diaphragmatic Hernia, And Radial Ray Defects
Definition:
Alternative IDs:
ParentIDs:	MESH:D006554\|MESH:D015785\|MESH:D065630
TreeNumbers:	C11.270/C563701 \|C16.131.433/C563701 \|C16.320.290/C563701 \|C16.614.378/C563701 \|C23.300.707.374.937.500/C563701 \|C23.300.707.500.116/C563701
Synonyms:	Gershoni-Baruch Syndrome
Slim Mappings:	Congenital abnormality\|Eye disease\|Genetic disease (inborn)\|Infant-newborn disease\|Pathology (anatomical condition)
Reference:	MedGen: C563701 MeSH: C563701 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants