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: neurodegenerative disease (MONDO:0005559)
Parent Node: optic nerve disease (MONDO:0002135)
..Starting node ..optic atrophy ()
Child Nodes:
........glaucomatous atrophy of optic disc ()
........optic atrophy 4 ()
........osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome ()
........partial optic atrophy ()
........primary optic atrophy ()
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:	3608
Name:	optic atrophy
Definition:	A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	atrophy of optic disc
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: IKBKG;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal