| Entry |
Name |
Description |
Category |
Pathway |
Gene |
|
H00633
|
Duane retraction syndrome
|
Duane retraction syndrome (DRS) is a congenital disorder of eye movement that occurs in approximately 1 in 50 patients with strabismus. This condition prevents horizontal eye movement, with absence of ...
|
Nervous system disease
|
|
(DURS2) CHN1 [HSA:1123] [KO:K20630]
(DURS3) MAFB [HSA:9935] [KO:K09036]
|
|
H01865
|
Multicentric carpotarsal osteolysis syndrome
|
... impairment. Both simplex cases and families with autosomal-dominant inheritance have been reported. Recently, heterozygous missense mutations in the MAFB gene have been causally related to MCTO patients.
|
Musculoskeletal disease
|
|
MAFB [HSA:9935] [KO:K09036]
|