MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation 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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: kidney disease (MONDO:0005240)
Parent Node: systemic disease with cataract (MONDO:0020227)
..Starting node ..renal disease with cataract ()
Child Nodes:
........Alport syndrome ()
........oculocerebrorenal syndrome ()
Sister Nodes:
..cardiac disease with cataract ()
..cataract associated with a metabolic disease ()
..cerebral disease with cataract ()
..craniofacial anomaly with cataract ()
..dentocutaneous disease with cataract ()
..musculoskeletal disease with cataract ()
..renal disease with cataract ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	20230
Name:	renal disease with cataract
Definition:
Alternative IDs:
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal