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: cranial nerve neuropathy (MONDO:0003569)
Parent Node: peripheral nervous system disease (MONDO:0003620)
Parent Node: retrocochlear disease (MONDO:0002453)
..Starting node ..vestibulocochlear nerve disease ()
Child Nodes:
........vestibular neuronitis ()
........vestibulocochlear nerve neoplasm ()
Sister Nodes:
..vestibulocochlear nerve disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1563
Name:	vestibulocochlear nerve disease
Definition:	A disease involving the vestibulocochlear nerve.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	acoustic nerve disease; acoustic nerve disorder; acoustic nerve disorder NOS; disease of vestibulocochlear nerve; disease or disorder of vestibulocochlear nerve; disorder of acoustic nerve; disorder of acoustovestibular nerve; disorder of eighth nerve; disorder of the vestibulocochlear nerve; disord
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal