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: benign neoplasm of ear (MONDO:0021474)
Parent Node: inner ear neoplasm (MONDO:0024320)
Parent Node: lipoma (MONDO:0005106)
..Starting node ..internal auditory canal lipoma ()
Child Nodes:
Sister Nodes:
..angiolipoma ()
..axillary lipoma ()
..breast lipoma ()
..central nervous system lipoma ()
..chest wall lipoma ()
..chondroid lipoma ()
..colorectal lipoma ()
..conventional lipoma ()
..endobronchial lipoma ()
..esophageal lipoma ()
..external ear lipoma ()
..familial multiple lipomatosis ()
..gallbladder lipoma ()
..heart lipoma ()
..hibernoma ()
..infiltrating lipoma ()
..internal auditory canal lipoma ()
..kidney lipoma ()
..lipoma of face ()
..lipoma of stomach ()
..liver lipoma ()
..lumbosacral lipoma ()
..paratesticular lipoma ()
..pleomorphic lipoma ()
..pleural lipoma ()
..skin lipoma ()
..spindle cell lipoma ()
..tendon sheath lipoma ()
..thymus lipoma ()
..tonsillar lipoma ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	3984
Name:	internal auditory canal lipoma
Definition:	A rare benign adipose tissue neoplasm of the internal auditory canal, often presenting as an acoustic tumor. It may be intermixed with the vestibulocochlear nerve and may adhere to adjacent structures.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	inner Ear lipoma; internal acoustic meatus lipoma; internal Ear lipoma; lipoma of internal acoustic meatus; lipoma of internal auditory canal; lipoma of the internal auditory canal
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal