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: eye neoplasm (MONDO:0021220)
Parent Node: head and neck cancer (MONDO:0005627)
Parent Node: sensory system cancer (MONDO:0000649)
..Starting node ..ocular cancer ()
Child Nodes:
........conjunctival cancer ()
........cornea cancer ()
........eye carcinoma ()
........eye lymphoma ()
........eyelid cancer ()
........lacrimal system cancer ()
........metastatic malignant neoplasm in the eye ()
........ocular melanoma ()
........retinal cancer ()
........uveal 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:	2236
Name:	ocular cancer
Definition:	A benign or malignant neoplasm affecting the structures of the eye.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	cancer of eye; cancer of eyeball of camera-type eye; cancer of the eye; eye cancer; eye neoplasm; eye neoplasm, malignant; eyeball of camera-type eye cancer; malignant eye cancer, NOS; malignant eye neoplasm; malignant eye tumor; malignant eyeball of camera-type eye neoplasm; malignant neoplasm of e
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal