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: ear neoplasm (MONDO:0021233)
Parent Node: inner ear disease (MONDO:0002467)
..Starting node ..inner ear neoplasm ()
Child Nodes:
........endolymphatic sac tumor (disease) ()
........inner ear cancer ()
........internal auditory canal lipoma ()
........internal auditory canal meningioma ()
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:	24320
Name:	inner ear neoplasm
Definition:	A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	inner Ear neoplasm; internal Ear neoplasm; internal ear neoplasm; internal ear neoplasm (disease); internal ear tumor; neoplasm of internal ear; tumor of internal ear
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal