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: external ear disease (MONDO:0002776)
..Starting node ..external ear neoplasm ()
Child Nodes:
........external ear cancer ()
........external ear lipoma ()
........polyp of external auditory canal ()
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:	21235
Name:	external ear neoplasm
Definition:	A neoplasm (disease) that involves the external ear.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	external ear neoplasm (disease); external Ear tumor; external ear tumor; neoplasm of external Ear; neoplasm of external ear; neoplasm of the external Ear; tumor of external Ear; tumor of external ear; tumor of the external Ear
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal