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: chronic orbital inflammation (MONDO:0001849)
Parent Node: myositis (MONDO:0021167)
..Starting node ..orbital plasma cell granuloma ()
Child Nodes:
Sister Nodes:
..bacterial myositis ()
..fibromyalgia ()
..fungal myositis ()
..idiopathic granulomatous myositis ()
..inclusion body myositis ()
..infectious myositis ()
..myositis fibrosa ()
..myositis ossificans ()
..orbital plasma cell granuloma ()
..polymyositis ()
..tendinitis ()
..viral myositis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	4769
Name:	orbital plasma cell granuloma
Definition:	A nonspecific tumor-like inflammatory lesion in the orbit of the eye. It is usually composed of mature lymphocytes; plasma cells; macrophages; leukocytes with varying degrees of fibrosis. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (orbital myositis) or inflammation of the lacrimal glands (dacryoadenitis).
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	granuloma, plasma cell, orbital; inflammatory pseudotumor of orbit; inflammatory pseudotumor, orbital; inflammatory pseudotumors, orbital; orbital granuloma, plasma cell; orbital inflammatory pseudotumor; orbital inflammatory pseudotumors; orbital myositis; orbital pseudotumors; plasma cell granulom
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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