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: disease of visual system (MONDO:0024458)
Parent Node: eye adnexa disease (MONDO:0000462)
Parent Node: mechanical strabismus (MONDO:0004753)
Parent Node: skeletal muscle disease (MONDO:0020120)
Parent Node: tendinopathy (MONDO:0100010)
..Starting node ..Brown's tendon sheath syndrome ()
Child Nodes:
Sister Nodes:
..Brown's tendon sheath syndrome ()
..tendinitis ()
..tendinosis ()
..tendon sheath disorder ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	982
Name:	Brown's tendon sheath syndrome
Definition:	Brown Syndrome is a rare eye disorder characterized by defects in eye movements caused by abnormalities of the superior oblique tendon sheath of the superior oblique muscle.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Brown syndrome; Brown tendon sheath syndrome; Brown's (tendon) sheath syndrome; Brown's sheath syndrome; superior oblique tendon sheath syndrome; tendon sheath adherence, Superior oblique
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: RNF170;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal