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 ×

Blue diaper syndrome

Drummond syndrome · Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome

ORPHA:94086

Enamel-renal syndrome

Amelogenesis imperfecta-nephrocalcinosis syndrome

ORPHA:1031

Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome

Hypercalcemic tumoral calcinosis

ORPHA:306661

Familial hypocalciuric hypercalcemia

FBH · FBHH

ORPHA:405

Familial hypocalciuric hypercalcemia type 1

FHH type 1

ORPHA:93372

Familial hypocalciuric hypercalcemia type 2

FHH type 2

ORPHA:101049

Familial hypocalciuric hypercalcemia type 3

FHH type 3

ORPHA:101050

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis

FHHNC · Michellis-Castrillo syndrome

ORPHA:306516