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"

14 matching diseasesClear search ×

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis

FHHNC · Michellis-Castrillo syndrome

ORPHA:306516

Autosomal dominant primary hypomagnesemia with hypocalciuria

HOMG2 · Isolated autosomal dominant hypomagnesemia

ORPHA:34528

Blue diaper syndrome

Drummond syndrome · Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome

ORPHA:94086

Dent disease

Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis

ORPHA:1652

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

OBSOLETE: Familial primary hypomagnesemia with normocalciuria and normocalcemia

ORPHA:34527

OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria

ORPHA:306519

OBSOLETE: Genetic primary hypomagnesemia with normocalciuria

ORPHA:306522

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

Primary hypomagnesemia with secondary hypocalcemia

HOMG1 · HSH

ORPHA:30924