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 ×

OBSOLETE: Primary parathyroid hyperplasia

OBSOLETE: Familial parathyroid hyperplasia · OBSOLETE: Hereditary parathyroid hyperplasia

ORPHA:99878

Hereditary gingival fibromatosis

Autosomal dominant gingival fibromatosis · Autosomal dominant gingival hyperplasia

ORPHA:2024

Juvenile Paget disease

Familial osteoectasia · Hereditary hyperphosphatasia

ORPHA:2801

OBSOLETE: Familial cervical artery dissection

OBSOLETE: Familial CAD · OBSOLETE: Hereditary CAD

ORPHA:36382

OBSOLETE: Familial flecked retinopathy

OBSOLETE: Hereditary flecked retinopathy

ORPHA:227786

OBSOLETE: Familial parathyroid adenoma

ORPHA:99877

X-linked acrogigantism

Hereditary infantile gigantism · Hereditary pituitary hyperplasia

ORPHA:300373