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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]
H02357 Congenital hypomyelinating neuropathy Congenital hypomyelinating neuropathy (CHN) is a rare congenital neuropathy, often accompanied by arthrogryposis, that is characterized by prenatal onset, areflexia, hypotonia, hypomyelination, and slowed ... Nervous system disease (CHN1) EGR2 [HSA:1959] [KO:K12496]
(CHN2) MPZ [HSA:4359] [KO:K06770]
(CHN3) CNTNAP1 [HSA:8506] [KO:K07379]
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