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"

13 matching diseasesClear search ×

X-linked acrogigantism

Hereditary infantile gigantism · Hereditary pituitary hyperplasia

ORPHA:300373

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

ORPHA:1416

Familial hypercholanemia

Hereditary hypercholanemia

ORPHA:238475

Hemifacial hyperplasia

Hemifacial hypertrophy

ORPHA:141145

Hereditary ataxia

ORPHA:183518

Hereditary gingival fibromatosis

Autosomal dominant gingival fibromatosis · Autosomal dominant gingival hyperplasia

ORPHA:2024

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

ORPHA:3197

Hereditary mucoepithelial dysplasia

Urban-Schosser-Spohn syndrome

ORPHA:1839

Hereditary palmoplantar keratoderma

Hereditary PPK · Hereditary keratosis palmoplantaris

ORPHA:79357

Hereditary progressive cardiac conduction defect

Hereditary Lenègre disease · Hereditary Lev disease

ORPHA:871

Juvenile Paget disease

Familial osteoectasia · Hereditary hyperphosphatasia

ORPHA:2801

OBSOLETE: Primary parathyroid hyperplasia

OBSOLETE: Familial parathyroid hyperplasia · OBSOLETE: Hereditary parathyroid hyperplasia

ORPHA:99878

Primary condylar hyperplasia

Type 1 condylar hyperplasia

ORPHA:477781