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: auditory system disease (MONDO:0002409)
Parent Node: disease of ear (MONDO:0021205)
..Starting node ..inner ear disease ()
Child 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 ()
Sister Nodes:
..ear infection ()
..ear neoplasm ()
..external ear disease ()
..hyperacusis ()
..inner ear disease ()
..middle ear disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2467
Name:	inner ear disease
Definition:	A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of internal ear; disease or disorder of internal ear; disorder of internal ear; disorder of internal ear; inner Ear disorder; internal ear disease; internal ear disease or disorder; internal Ear disorder; labyrinthine disease; vestibular disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: VPS13B;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal