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: sensory system cancer (MONDO:0000649)
..Starting node ..auditory system cancer ()
Child Nodes:
........external ear cancer ()
........inner ear cancer ()
........malignant neoplasm of acoustic nerve ()
........middle ear cancer ()
Sister Nodes:
..auditory system cancer ()
..malignant ear neoplasm ()
..nasal cavity cancer ()
..ocular cancer ()
..optic tract astrocytoma ()
..paranasal sinus cancer ()
..tongue cancer ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	4532
Name:	auditory system cancer
Definition:	A malignant neoplasm involving the auditory system
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	auditory system cancer; cancer of auditory system; malignant auditory system neoplasm; malignant neoplasm of auditory system
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: GBA;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal