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: disease by subcellular system affected (MONDO:0021194)
..Starting node ..disease by cellular component affected ()
Child Nodes:
........ciliopathy ()
........disease by cell type ()
........disease of macromolecular complex ()
........disease of membrane bound organelle ()
........disease of supramolecular complex ()
........laminopathy ()
........synaptopathy ()
Sister Nodes:
..disease by cellular component affected ()
..disease by cellular process disrupted ()
..disease by molecular activity disrupted ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	21197
Name:	disease by cellular component affected
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal