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: metabolic disease associated with ocular features (MONDO:0020278)
..Starting node ..metabolic disease with macular cherry-red spot ()
Child Nodes:
........galactosialidosis ()
........GM1 gangliosidosis ()
........Niemann-Pick disease type A ()
........Sandhoff disease ()
........sialidosis type 1 ()
........Tay-Sachs disease ()
Sister Nodes:
..metabolic disease with cataract ()
..metabolic disease with corneal opacity ()
..metabolic disease with macular cherry-red spot ()
..metabolic disease with pigmentary retinitis ()
..mitochondrial disease with eye involvement ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	20282
Name:	metabolic disease with macular cherry-red spot
Definition:
Alternative IDs:
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Synonyms:
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal