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7 Patents Filed · HIPAA-Aligned · Free for Patients · Westwood, MA
Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.
Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"
PMP2-related Charcot-Marie-Tooth disease type 1
PMP2-related CMT1 · PMP2-related Charcot-Marie-Tooth neuropathy type 1
PMP22-RAI1 contiguous gene duplication syndrome
Yuan-Harel-Lupski syndrome · 17p11.2p12 microduplication syndrome
Pseudomyxoma peritonei
Adenomucinosis · Gelatinous ascites
Multiple mitochondrial dysfunctions syndrome type 6
PMPCB deficiency
Pearson syndrome
Pearson marrow-pancreas syndrome · PMPS
Pyomyositis
Myositis purulenta tropica · Myositis tropicans