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: optic nerve disease (MONDO:0002135)
..Starting node ..papilledema ()
Child Nodes:
........Foster-Kennedy syndrome ()
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:	2003
Name:	papilledema
Definition:	Swelling around the optic disc, usually due to increased intracranial pressure or pressure on the optic nerve by a tumor.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Choked disk; edema of the optic disc; papilloedema
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: PMP22;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal