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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"
Congenital muscular dystrophy with intellectual disability and severe epilepsy
CDG syndrome type Iu · CDG-Iu
Congenital disorder of glycosylation
CDG · Carbohydrate deficient glycoprotein syndrome
DDOST-CDG
CDG syndrome type Ir · CDG-Ir
DK1-CDG
Dolichol kinase deficiency · Hypotonia and ichthyosis due to dolichol phosphate deficiency
DPAGT1-CDG
CDG syndrome type Ij · CDG-Ij
DPM1-CDG
CDG syndrome type Ie · CDG-Ie
DPM3-CDG
CDG syndrome type Io · CDG-Io
PMM2-CDG
CDG syndrome type Ia · CDG-Ia