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: purulent endophthalmitis (MONDO:0004863)
Parent Node: scleritis (disease) (MONDO:0001718)
..Starting node ..panophthalmitis ()
Child Nodes:
Sister Nodes:
..anterior scleritis ()
..necrotizing scleritis ()
..panophthalmitis ()
..posterior scleritis ()
..scleroperikeratitis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	6884
Name:	panophthalmitis
Definition:	Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture.
Alternative IDs:
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Synonyms:
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: BRCA2; PTCH2; SUFU;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal