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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"
Blepharophimosis-intellectual disability syndrome, MKB type
BMRS, MKB type · BMRS, Maat-Kievit-Brunner type
Blepharophimosis-intellectual disability syndrome, Ohdo type
BMRS, Ohdo type · Blepharophimosis syndrome, Ohdo type
Blepharophimosis-intellectual disability syndrome, Verloes type
BMRS type V · BMRS, Verloes type
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B · MOCOD type B