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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"
Dysmorphism-short stature-deafness-difference of sex development syndrome
Dysmorphism-short stature-hearing loss-disorder of sex development syndrome · Dysmorphism-short stature-deafness-disorder of sex development syndrome
Isotretinoin-like syndrome
Kawashima syndrome · Microtia-aortic arch syndrome