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: cholesteatoma (disease) (MONDO:0006530)
Parent Node: external ear disease (MONDO:0002776)
..Starting node ..cholesteatoma of external ear ()
Child Nodes:
Sister Nodes:
..cholesteatoma of external ear ()
..external ear neoplasm ()
..otitis externa ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	6532
Name:	cholesteatoma of external ear
Definition:	A cholesteatoma (disease) that involves the external ear.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	cholesteatoma (disease) of external ear; external canal cholesteatoma; external ear cholesteatoma (disease)
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal