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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: Abnormalities, Multiple (D000015)
Parent Node: Cholestasis (D002779)
Parent Node: Jaundice (D007565)
Parent Node: Renal Insufficiency (D051437)
..Starting node ..Lutz Richner Landolt syndrome (C537726)
Child Nodes:
Sister Nodes:
..Acute Kidney Injury (D058186) 2
..Arthrogryposis renal dysfunction cholestasis syndrome (C535382)
..Cardio-Renal Syndrome (D059347)
..EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
..Hyperuricemic Nephropathy, Familial Juvenile 2 (C567760)
..Lutz Richner Landolt syndrome (C537726)
..Nephrolithiasis, X-Linked Recessive, with Renal Failure (C562901)
..Papillorenal syndrome (C537168)
..Renal Insufficiency, Chronic (D051436) 4
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6577
Name:	Lutz Richner Landolt syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D002779\|MESH:D007565\|MESH:D051437
TreeNumbers:	C06.130.120.135/C537726 \|C12.777.419.780/C537726 \|C13.351.968.419.780/C537726 \|C16.131.077/C537726 \|C23.550.429.500/C537726 \|C23.888.885.375/C537726
Synonyms:	Biliary malformation with renal tubular insufficiency \|Cholestatic jaundice and renal tubular insufficiency \|Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies
Slim Mappings:	Congenital abnormality\|Digestive system disease\|Pathology (process)\|Signs and symptoms\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C537726 MeSH: C537726 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants