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: Urination Disorders (D014555)
Parent Node: Urological Manifestations (D020924)
..Starting node ..Proteinuria (D011507)
Child Nodes:
........Albuminuria (D000419)
........Donnai-Barrow syndrome (C536390)
........Hemoglobinuria (D006456) 1
........Imerslund-Grasbeck syndrome (C538556) 1
Sister Nodes:
..Hypercalciuria (D053565) 6
..Lower Urinary Tract Symptoms (D059411) 7
..Oliguria (D009846)
..Polyuria (D011141) 1
..Proteinuria (D011507) 6
..Urinoma (D053584)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9380
Name:	Proteinuria
Definition:	The presence of proteins in the urine, an indicator of KIDNEY DISEASES.
Alternative IDs:
ParentIDs:	MESH:D014555\|MESH:D020924
TreeNumbers:	C12.777.934.734 \|C13.351.968.934.734 \|C23.888.942.750
Synonyms:	Proteinurias
Slim Mappings:	Signs and symptoms\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: D011507 MeSH: D011507 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants