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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: Gardner Syndrome (D005736)
..Starting node ..Samson Gardner syndrome (C537230)
Child Nodes:
Sister Nodes:
..Adenomatous Polyposis Coli, Attenuated (C566778)
..Intestinal polyposis, osteomas, sebaceous cysts (C535644)
..Samson Gardner syndrome (C537230)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9960
Name:	Samson Gardner syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D005736
TreeNumbers:	C04.557.470.035.215.100.500/C537230 \|C04.588.274.476.411.307.089.393/C537230 \|C04.588.274.476.411.307.180.089.500/C537230 \|C04.700.100.392/C537230 \|C06.301.371.411.307.180.089.500/C537230 \|C06.405.249.411.307.180.089.500/C537230 \|C06.405.469.158.356.180.089.50
Synonyms:	Craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia
Slim Mappings:	Cancer\|Congenital abnormality\|Digestive system disease\|Genetic disease (inborn)
Reference:	MedGen: C537230 MeSH: C537230 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants