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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: Nail-Patella Syndrome (D009261)
Parent Node: Nephritis, Hereditary (D009394)
..Starting node ..Salcedo syndrome (C537228)
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:	9946
Name:	Salcedo syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D009261\|MESH:D009394
TreeNumbers:	C05.550.629/C537228 \|C12.706.742/C537228 \|C12.777.419.570.620/C537228 \|C13.351.875.742/C537228 \|C13.351.968.419.570.620/C537228 \|C16.131.077.606/C537228 \|C16.131.939.742/C537228 \|C16.320.600/C537228 \|C17.300.200.517/C537228 \|C17.800.529.400/C537228
Synonyms:	Glomerular basement membrane disease, nail-patella syndrome type \|Nail patella like renal disease \|Nail-Patella-Like Renal Disease
Slim Mappings:	Congenital abnormality\|Connective tissue disease\|Genetic disease (inborn)\|Musculoskeletal disease\|Skin disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C537228 MeSH: C537228 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants