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 ×

Hereditary gingival fibromatosis

Autosomal dominant gingival fibromatosis · Autosomal dominant gingival hyperplasia

ORPHA:2024

Familial hypercholanemia

Hereditary hypercholanemia

ORPHA:238475

Gingival fibromatosis-hypertrichosis syndrome

CGHT · Congenital generalized hypertrichosis terminalis

ORPHA:2026

Hemifacial hyperplasia

Hemifacial hypertrophy

ORPHA:141145

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

ORPHA:3197

Juvenile Paget disease

Familial osteoectasia · Hereditary hyperphosphatasia

ORPHA:2801

OBSOLETE: Primary parathyroid hyperplasia

OBSOLETE: Familial parathyroid hyperplasia · OBSOLETE: Hereditary parathyroid hyperplasia

ORPHA:99878

X-linked acrogigantism

Hereditary infantile gigantism · Hereditary pituitary hyperplasia

ORPHA:300373