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: lacrimal apparatus disease (MONDO:0001854)
Parent Node: ocular cancer (MONDO:0002236)
..Starting node ..lacrimal system cancer ()
Child Nodes:
........lacrimal duct cancer ()
........lacrimal gland cancer ()
Sister 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 ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2460
Name:	lacrimal system cancer
Definition:	A cancer that involves the lacrimal apparatus.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	cancer of lacrimal apparatus; lacrimal apparatus cancer; lacrimal system neoplasm; lacrimal system neoplasms; lacrimal system tumor; malignant lacrimal apparatus neoplasm; malignant neoplasm of lacrimal apparatus; neoplasm of lacrimal system; neoplasm of the lacrimal system; tumor of lacrimal system
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal