Preferred Name |
Benign essential blepharospasm |
|
Synonyms |
Primary Blepharospasm |
|
ID |
http://purl.bioontology.org/ontology/MESH/C535428 |
|
altLabel |
Primary Blepharospasm Spasm of Eyelids Essential Blepharospasm Blepharospasm, Benign Essential Eyelid Twitching |
|
cui |
C2930898 |
|
HM |
D001764 |
|
Inverse of RB |
0 |
|
Mapped to | ||
MDA |
20100825 |
|
MeSH Frequency |
114 |
|
MMR |
20150817 |
|
notation |
C535428 |
|
prefLabel |
Benign essential blepharospasm |
|
SC |
3 |
|
Scope Statement |
A DYSTONIC DISORDER that affects the orbicularis oculi muscles; onset is typically in middle age. Symptoms include eye irritation and frequent BLINKING, progressing to involuntary SPASMS of eyelid closure and possibly functional blindness. It is likely caused by a combination of multiple genetic and environmental factors and may be associated with polymorphisms in the DRD5 gene. OMIM: 606798 |
|
TERMUI |
T840995 T840996 T840998 T736021 T811293 T840997 |
|
TH |
OMIM (2013) GHR (2014) ORD (2010) |
|
tui |
T047 |