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- B0413a8ebeacfbfa4aeb0dcde788c29d2 source "GARD:0005690" @default.
- B0413a8ebeacfbfa4aeb0dcde788c29d2 type Axiom @default.
- B0413a8ebeacfbfa4aeb0dcde788c29d2 annotatedProperty comment @default.
- B0413a8ebeacfbfa4aeb0dcde788c29d2 annotatedSource MONDO_0007508 @default.
- B0413a8ebeacfbfa4aeb0dcde788c29d2 annotatedTarget "Rapp-Hodgkin syndrome has signs and symptoms that overlap considerably with those of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. These two syndromes were classified as separate disorders until it was discovered that they both result from mutations in the same part of the same gene. Most researchers now consider Rapp-Hodgkin syndrome and AEC syndrome to be part of the same disease spectrum" @default.