Rare Disease Library

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"

7 matching diseasesClear search ×

Autosomal recessive cutis laxa type 2, classic type

ARCL2, Debré type · ARCL2, classic type

ORPHA:357074

Antiphospholipid syndrome

Classic antiphospholipid syndrome · APLS

ORPHA:80

Autosomal recessive cutis laxa type 2B

ARCL2, progeroid type · ARCL2B

ORPHA:357064

Classic congenital lipoid adrenal hyperplasia due to STAR deficency

Classic CLAH

ORPHA:325524

Classical-like Ehlers-Danlos syndrome type 1

Ehlers-Danlos syndrome due to tenascin-X deficiency · Classical-like EDS type 1

ORPHA:230839

Classical-like Ehlers-Danlos syndrome type 2

Classical-like EDS type 2 · AEBP1-related Ehlers-Danlos syndrome

ORPHA:536532

HSD10 disease, infantile type

2-methyl-3-hydroxybutyric aciduria, classic type · 2-methyl-3-hydroxybutyric aciduria, infantile type

ORPHA:391428