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: central nervous system neoplasm (MONDO:0006130)
Parent Node: cranial nerve neoplasm (MONDO:0002633)
Parent Node: optic nerve disease (MONDO:0002135)
..Starting node ..optic nerve neoplasm ()
Child Nodes:
........bilateral meningioma of optic nerve ()
........optic nerve glioma ()
........optic nerve sheath meningioma ()
Sister Nodes:
..anterior ischemic optic neuropathy ()
..extensive peripapillary myelinated nerve fibers ()
..low tension glaucoma ()
..optic atrophy ()
..optic disk drusen ()
..optic nerve neoplasm ()
..optic neuritis ()
..papilledema ()
..pseudopapilledema (disease) ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2640
Name:	optic nerve neoplasm
Definition:	Benign and malignant neoplasms which arise from or metastasize to the optic or second cranial nerve which extends from the optic disc of the eye and joins the optic chiasm. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve tumors or optic gliomas.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	cranial nerve II neoplasm; cranial nerve II neoplasm (disease); cranial nerve II neoplasms; cranial nerve II tumor; neoplasm of cranial nerve II; neoplasm of optic nerve; neoplasm of second cranial nerve; neoplasm of the optic nerve; neoplasm of the second cranial nerve; neoplasms, optic nerve; neop
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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