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Entry Name Description Category Pathway Gene
H00257 Achalasia Addisonianism Alacrima syndrome
Triple A syndrome
Allgrove syndrome
... instability caused by mutation in the AAAS gene on 12q13. Recently, it has been reported that mutations in GMPPA cause alacrima, achalasia, and mental retardation syndrome (AAMR), that shows similarity to the ... Endocrine and metabolic disease (AAA) AAAS [HSA:8086] [KO:K14320]
(AAMR) GMPPA [HSA:29926] [KO:K00966]
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