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: sensory organ benign neoplasm (MONDO:0000633)
..Starting node ..benign neoplasm of ear ()
Child Nodes:
........benign neoplasm of middle ear ()
........external ear lipoma ()
........internal auditory canal lipoma ()
Sister Nodes:
..benign neoplasm of ear ()
..benign neoplasm of ethmoidal sinus ()
..benign neoplasm of eye ()
..benign neoplasm of frontal sinus ()
..benign neoplasm of maxillary sinus ()
..benign neoplasm of nasal cavity ()
..benign neoplasm of sphenoidal sinus ()
..benign neoplasm of tongue ()
..paranasal sinus Schneiderian papilloma ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	21474
Name:	benign neoplasm of ear
Definition:	A benign neoplasm that involves the ear.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	aural neoplasms, benign; benign Ear neoplasm; benign Ear tumor; benign neoplasm of the Ear; benign tumor of Ear; benign tumor of the Ear; ear benign neoplasm
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal