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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"
Paramedian nasal cleft
Isolated cleft of the ala nasi · Alar cleft
Isolated cleft lip
Isolated colonic duplication
Isolated duplication of the colon
Soft and hard cleft palate
Isolated cleft of the soft and hard palate · Combined form of soft and hard cleft palate
T-cell immunodeficiency with thymic aplasia
Nezelof syndrome · Isolated congenital athymia