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 ×

Congenital adrenal hyperplasia

CAH

ORPHA:418

Autoimmune hemolytic anemia, cold type

Cold AIHA · cAHA

ORPHA:228312

Cataract-hypertrichosis-intellectual disability syndrome

CAHMR syndrome

ORPHA:1375

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

CAH due to 11-beta-hydroxylase deficiency · CYP11B1 deficiency

ORPHA:90795

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

CAH due to 17-alpha-hydroxylase deficiency · Combined 17-hydroxylase/17,20-lyase deficiency

ORPHA:90793

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency

ORPHA:90791

Congenital lipoid adrenal hyperplasia due to STAR deficency

LCAH · CLAH

ORPHA:90790