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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"
Haddad syndrome
Congenital central alveolar hypoventilation-Hirschsprung disease syndrome · Ondine-Hirschsprung disease
Hirschsprung disease
Aganglionic megacolon · Congenital intestinal aganglionosis
Hirschsprung disease-deafness-polydactyly syndrome
Hirschsprung disease-hearing loss-polydactyly syndrome · Santos-Mateus-Leal syndrome
Hirschsprung disease-ganglioneuroblastoma syndrome
Hirschsprung disease-type D brachydactyly syndrome
Mowat-Wilson syndrome
Hirschsprung disease-intellectual disability syndrome