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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"
Autosomal recessive cutis laxa type 2B
ARCL2, progeroid type · ARCL2B
Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type · ARCL2, classic type
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
EDS with short stature and limb anomalies · EDS progeroid type 1
De Barsy syndrome
Cutis laxa-corneal clouding-intellectual disability syndrome · Progeroid syndrome, De Barsy type
Progeroid syndrome, Petty type
Petty syndrome · Petty-Laxova-Wiedemann syndrome