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: head and neck cancer (MONDO:0005627)
Parent Node: sensory system cancer (MONDO:0000649)
..Starting node ..malignant ear neoplasm ()
Child Nodes:
........external ear cancer ()
........inner ear cancer ()
........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:	3277
Name:	malignant ear neoplasm
Definition:	A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	auricular cancer; cancer of ear; ear cancer; malignant Ear neoplasm; malignant ear neoplasm; malignant Ear tumor; malignant neoplasm of Ear; malignant neoplasm of ear; malignant neoplasm of the Ear; malignant tumor of Ear; malignant tumor of ear; malignant tumor of the Ear
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal