Disease browser and phenotype portal

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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: Kidney Calculi (D007669)
Parent Node: Nails, Malformed (D009264)
Parent Node: Pachyonychia Congenita (D053549)
..Starting node ..Gorlin Bushkell Jensen syndrome (C537289)
Child Nodes:
Sister Nodes:
..Gorlin Bushkell Jensen syndrome (C537289)
..Pachyonychia congenita recessive (C538094)
..Steatocystoma Multiplex (D062685) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4771
Name:	Gorlin Bushkell Jensen syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D007669\|MESH:D009264\|MESH:D053549
TreeNumbers:	C12.777.419.600.500/C537289 \|C12.777.967.249.500/C537289 \|C12.777.967.500.503/C537289 \|C13.351.968.419.600.500/C537289 \|C13.351.968.967.249.500/C537289 \|C13.351.968.967.500.503/C537289 \|C16.131.831.350.856/C537289 \|C16.320.850.250.856/C537289 \|C17.800.529.594/C5
Synonyms:
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Pathology (anatomical condition)\|Skin disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C537289 MeSH: C537289 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants