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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: Nephritis, Hereditary (D009394)
..Starting node ..Alport Syndrome-Like Hereditary Nephritis (C562890)
Child Nodes:
Sister Nodes:
..Alport syndrome, dominant type (C536586)
..Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
..Alport syndrome, recessive type (C536587)
..ALPORT SYNDROME, X-LINKED (OMIM:301050)
..Alport Syndrome-Like Hereditary Nephritis (C562890)
..Daentl Towsend Siegel syndrome (C535768)
..Deafness nephritis ano rectal malformation (C535996)
..Leiomyomatosis, esophageal and vulval, with nephropathy (C537113)
..Nephropathy, Progressive, with Deafness (C563713)
..Renal Failure, Progressive, with Hypertension (C562889)
..Salcedo syndrome (C537228)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	480
Name:	Alport Syndrome-Like Hereditary Nephritis
Definition:
Alternative IDs:
ParentIDs:	MESH:D009394
TreeNumbers:	C12.706.742/C562890 \|C12.777.419.570.620/C562890 \|C13.351.875.742/C562890 \|C13.351.968.419.570.620/C562890 \|C16.131.939.742/C562890 \|C17.300.200.517/C562890
Synonyms:
Slim Mappings:	Congenital abnormality\|Connective tissue disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C562890 MeSH: C562890 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants