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"

18 matching diseasesClear search ×

Adrenal hypoplasia congenita

Congenital adrenal hypoplasia · AHC

ORPHA:595337

Addison disease

Primary Addison disease · Autoimmune adrenalitis

ORPHA:85138

Congenital adrenal hyperplasia

CAH

ORPHA:418

Familial adrenal hypoplasia with absent pituitary luteinizing hormone

Familial adrenal hypoplasia with absent pituitary LH · Familial adrenal hypoplasia, miniature type

ORPHA:95700

Idiopathic achalasia

Achalasia cardia · Idiopathic achalasia of esophagus

ORPHA:930

Isolated adrenal medullary hyperplasia

Isolated AMH

ORPHA:688649

OBSOLETE: Primary pigmented nodular adrenocortical disease

OBSOLETE: PPNAD · OBSOLETE: Primary pigmented nodular adrenal dysplasia

ORPHA:189439

Primary adrenal insufficiency

ORPHA:101958

Primary bone dysplasia

Primary osteodysplasia · Primary skeletal dysplasia

ORPHA:364526

Primary condylar hyperplasia

Type 1 condylar hyperplasia

ORPHA:477781

Primary hypophysitis

Autoimmune hypophysitis

ORPHA:95506

Primary pulmonary hypoplasia

ORPHA:2257

Primary unilateral adrenal hyperplasia

PUAH

ORPHA:231580

Pulmonary artery hypoplasia

Unilateral Pulmonary Artery Hypoplasia · PAH

ORPHA:99083

Renal hypoplasia

ORPHA:93101

Renal hypoplasia, bilateral

ORPHA:97362

Renal hypoplasia, unilateral

ORPHA:97361

X-linked adrenal hypoplasia congenita

X-linked congenital adrenal hypoplasia · X-linked AHC

ORPHA:95702