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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: Eye Abnormalities (D005124)
Parent Node: Nephrotic Syndrome (D009404)
..Starting node ..Nephrotic Syndrome, Congenital, with or without Ocular Abnormalities (C563805)
Child Nodes:
Sister Nodes:
..Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome (C565852)
..Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type (C562683)
..Feigenbaum Bergeron Richardson syndrome (C536178)
..Hutterite cerebroosteonephrodysplasia syndrome (C536074)
..Mesangial sclerosis, diffuse (C537346)
..Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities (C565405)
..Nephrosis, congenital (C535761)
..Nephrotic syndrome ocular anomalies (C536403)
..Nephrotic Syndrome, Congenital, with or without Ocular Abnormalities (C563805)
..Nephrotic syndrome, idiopathic, steroid-resistant (C536404)
..NEPHROTIC SYNDROME, TYPE 3 (OMIM:610725)
..NEPHROTIC SYNDROME, TYPE 4 (OMIM:256370)
..Pierson syndrome (C537185)
..Schimke immunoosseous dysplasia (C536629)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7900
Name:	Nephrotic Syndrome, Congenital, with or without Ocular Abnormalities
Definition:
Alternative IDs:
ParentIDs:	MESH:D005124\|MESH:D009404
TreeNumbers:	C11.250/C563805 \|C12.777.419.630.643/C563805 \|C13.351.968.419.630.643/C563805 \|C16.131.384/C563805
Synonyms:
Slim Mappings:	Congenital abnormality\|Eye disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C563805 MeSH: C563805 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants