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"

4 matching diseasesClear search ×

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis

FHHNC · Michellis-Castrillo syndrome

ORPHA:306516

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement

FHHNC with severe ocular involvement · Hypercalciuria-bilateral macular coloboma syndrome

ORPHA:2196

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement

FHHNC without severe ocular involvement · HOMG3

ORPHA:31043

Familial hypocalciuric hypercalcemia

FBH · FBHH

ORPHA:405