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 ..external ear disease ()
Child Nodes:
........cholesteatoma of external ear ()
........external ear neoplasm ()
........otitis externa ()
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:	2776
Name:	external ear disease
Definition:	A disease involving the external ear.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of external ear; disease or disorder of external ear; disorder of external ear; disorder of external ear; external ear disease; external ear disease or disorder; external ear disorder; preauricular cyst; preauricular cyst (disorder); preauricular sinus and fistula; preauricular sinus and fis
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal