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 disease (MONDO:0002602)
Parent Node: cranial nerve neuropathy (MONDO:0003569)
Parent Node: disease of visual system (MONDO:0024458)
..Starting node ..optic nerve disease ()
Child 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) ()
Sister Nodes:
..Brown's tendon sheath syndrome ()
..eye disease ()
..myopathy of extraocular muscle ()
..optic nerve disease ()
..vision disorder ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2135
Name:	optic nerve disease
Definition:	A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve).
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	cranial nerve II disease; cranial nerve II disease or disorder; disease of cranial nerve II; disease or disorder of cranial nerve II; disorder of cranial nerve II; disorder of cranial nerve II; disorder of the second nerve; optic nerve disorder; optic neuropathy; second cranial nerve disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal