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: Hearing Loss, Sensorineural (D006319)
Parent Node: Kidney Failure, Chronic (D007676)
Parent Node: Nephritis, Hereditary (D009394)
..Starting node ..Nephropathy, Progressive, with Deafness (C563713)
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:	7891
Name:	Nephropathy, Progressive, with Deafness
Definition:
Alternative IDs:	OMIM:609469
ParentIDs:	MESH:D006319\|MESH:D007676\|MESH:D009394
TreeNumbers:	C09.218.458.341.887/C563713 \|C10.597.751.418.341.887/C563713 \|C12.706.742/C563713 \|C12.777.419.570.620/C563713 \|C12.777.419.780.750.500/C563713 \|C13.351.875.742/C563713 \|C13.351.968.419.570.620/C563713 \|C13.351.968.419.780.750.500/C563713 \|C16.131.939.742/C56371
Synonyms:	Alport Focal Segmental Glomerulosclerosis-Like Syndrome \|ALPORT/FOCAL SEGMENTAL GLOMERULOSCLEROSIS-LIKE SYNDROME \|NEDE
Slim Mappings:	Congenital abnormality\|Connective tissue disease\|Ear-nose-throat disease\|Nervous system disease\|Signs and symptoms\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C563713 MeSH: C563713 OMIM: 609469; Genes:
Phenotypes
Disease Causing ClinVar Variants