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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease crest syndrome
Comorbidity C0018552|hamartomatous
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PubMedID- 24403820 Neurofibromatosis type 1 (nf1), an autosomal dominant disorder with a high mutation rate, is considered a neurocristopathy characterized by pathologic hamartomatous proliferation of neural crest-derived tissues.

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