Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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

Disease Browser
Parent Node: Eyelid Diseases (D005141)
..Starting node ..Blepharospasm (D001764)
Child Nodes:
........Benign essential blepharospasm (C535428)
........Pallidopyramidal syndrome (C538104)
Sister Nodes:
..Barber Say syndrome (C537908)
..Blepharitis (D001762) 1
..Blepharochalasis, Superior (C566223)
..Blepharophimosis (D016569) 17
..Blepharoptosis (D001763) 24
..Blepharospasm (D001764) 2
..Chalazion (D017043)
..Cryptophthalmos, Unilateral or Bilateral, Isolated (C565138)
..Curly hair-ankyloblepharon-nail dysplasia syndrome (C538074)
..Eccrine Syringofibroadenomatosis with Eyelid Abnormalities (C566347)
..Ectropion (D004483) 2
..Entropion (D004774)
..Epiblepharon of Upper Lid (C565051)
..Eyelid Neoplasms (D005142) 2
..Hordeolum (D006726)
..Hyperpigmentation of Eyelids (C562400)
..Trichiasis (D058457)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1321
Name:	Blepharospasm
Definition:	Excessive winking; tonic or clonic spasm of the orbicularis oculi muscle.
Alternative IDs:
ParentIDs:	MESH:D005141
TreeNumbers:	C11.338.250
Synonyms:	Blepharospasms
Slim Mappings:	Eye disease
Reference:	MedGen: D001764 MeSH: D001764 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants