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: Hemorrhage (D006470)
Parent Node: Urination Disorders (D014555)
..Starting node ..Hematuria (D006417)
Child Nodes:
........Coloboma, cleft lip/palate and mental retardation syndrome (C535971)
........Hematuria, Benign Familial (C562476)
Sister Nodes:
..Anuria (D001002)
..Enuresis (D004775) 3
..Fowler Christmas Chapple syndrome (C537271)
..Glycosuria (D006029) 2
..Hematuria (D006417) 2
..Oliguria (D009846)
..Polyuria (D011141) 1
..Proteinuria (D011507) 6
..Urinary Incontinence (D014549) 2
..Urinary Retention (D016055)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5003
Name:	Hematuria
Definition:	Presence of blood in the urine.
Alternative IDs:
ParentIDs:	MESH:D006470\|MESH:D014555
TreeNumbers:	C12.777.934.442 \|C13.351.968.934.442 \|C23.550.414.849
Synonyms:	Hematurias
Slim Mappings:	Pathology (process)\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: D006417 MeSH: D006417 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants