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 Diseases (D007674)
Parent Node: Upper Extremity Deformities, Congenital (D038062)
..Starting node ..Radio renal syndrome (C536267)
Child Nodes:
Sister Nodes:
..Absent radii and thrombocytopenia (C536940)
..Cubitus Valgus with Mental Retardation and Unusual Facies (C564510)
..Fryns Hofkens Fabry syndrome (C538069)
..Hand Deformities, Congenital (D006228) 134
..Holt-Oram syndrome (C535326)
..Hypomelia mullerian duct anomalies (C537155)
..Ophthalmomandibulomelic Dysplasia (C563501)
..Radio renal syndrome (C536267)
..Tamari Goodman syndrome (C536896)
..Terminal Transverse Defects of Arm (C565681)
..Ulnar hypoplasia lobster claw deformity of feet (C536936)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9579
Name:	Radio renal syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D007674\|MESH:D038062
TreeNumbers:	C05.660.585.988/C536267 \|C12.777.419/C536267 \|C13.351.968.419/C536267 \|C16.131.621.585.988/C536267
Synonyms:	Radio-renal syndrome
Slim Mappings:	Congenital abnormality\|Musculoskeletal disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C536267 MeSH: C536267 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants