Rare Disease Library

Juvenile Paget disease

Familial osteoectasia · Hereditary hyperphosphatasia

Adult hypophosphatasia

Adult Rathbun disease · Adult phosphoethanolaminuria

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

Familial hypercholanemia

Hereditary hypercholanemia

Hereditary ataxia

Hereditary gingival fibromatosis

Autosomal dominant gingival fibromatosis · Autosomal dominant gingival hyperplasia

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Hereditary hypophosphatemic rickets with hypercalciuria

HHRH

Hyperostosis corticalis generalisata

Van Buchem disease · Hyperphosphatasemia tarda

Hypophosphatasia

HPP · Phosphoethanolaminuria

OBSOLETE: Primary parathyroid hyperplasia

OBSOLETE: Familial parathyroid hyperplasia · OBSOLETE: Hereditary parathyroid hyperplasia

X-linked acrogigantism

Hereditary infantile gigantism · Hereditary pituitary hyperplasia