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: autoimmune disease of ear, nose and throat (MONDO:0000587)
Parent Node: inner ear disease (MONDO:0002467)
..Starting node ..autoimmune inner ear disease ()
Child Nodes:
Sister Nodes:
..autoimmune inner ear disease ()
..cochlear disease ()
..enlarged vestibular aqueduct syndrome ()
..inner ear neoplasm ()
..labyrinthine dysfunction ()
..labyrinthitis ()
..motion sickness ()
..otosclerosis (disease) ()
..vestibular disease ()
..X-linked mixed deafness with perilymphatic gusher ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	22518
Name:	autoimmune inner ear disease
Definition:	A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	AIED
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal