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"

8 matching diseasesClear search ×

McCune-Albright syndrome

ORPHA:562

Cutaneous neuroendocrine carcinoma

MCC · Merkel cell carcinoma

ORPHA:79140

3-methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonylglycinuria · MCC deficiency

ORPHA:6

Familial expansile osteolysis

Hereditary expansile polyostotic osteolytic dysplasia · McCabe disease

ORPHA:85195

Chudley-McCullough syndrome

ORPHA:314597

Fibrous dysplasia/McCune-Albright syndrome

Fibrous dysplasia/McCune-Albright spectrum · FD/MAS spectrum

ORPHA:595216

Smith-McCort dysplasia

ORPHA:178355

Multilocular cystic renal neoplasm of low malignant potential

Multilocular cystic renal cell adenocarcinoma · Multilocular cystic renal cell carcinoma

ORPHA:319287