Rare Disease Library

Familial normophosphatemic tumoral calcinosis

Familial tumoral calcinosis

Fetal alcohol syndrome

ARBD · ARND

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Cardiovascular Gaucher disease · Gaucher disease type 3C

Generalized arterial calcification of infancy

Idiopathic infantile arterial calcification · Idiopathic obliterative arteriopathy

Hereditary arterial and articular multiple calcification syndrome

CALJA · Calcification of joints and arteries

Hereditary butyrylcholinesterase deficiency

Hereditary pseudocholinesterase deficiency

Hereditary hypophosphatemic rickets with hypercalciuria

HHRH

Hypocalcemic rickets

Hypocalcemic vitamin D-dependent rickets

1-alpha-hydroxylase deficiency · PDDRI

Hypocalcemic vitamin D-resistant rickets

HVDRR · Hereditary vitamin D-resistant rickets

Hypocalcified amelogenesis imperfecta

Amelogenesis imperfecta type 3

Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency

Idiopathic hypercalciuria

Infantile choroidocerebral calcification syndrome

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Primrose syndrome

Interstitial lung disease-brain calcification syndrome

Interstitial lung disease-brain calcification syndrome, Rajab type · Developmental delay-brain calcification-interstitial lung disease syndrome

Methylcobalamin deficiency type cblDv1

Functional methionine synthase deficiency type cblDv1

Methylcobalamin deficiency type cblE

Functional methionine synthase deficiency type cblE

Methylcobalamin deficiency type cblG

Functional methionine synthase deficiency type cblG

Methylmalonic acidemia with homocystinuria, type cblC

CblC defect · Cobalamin C defect

Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome

MFHIEN · Midface hypoplasia-hearing loss-elliptocytosis-nephrocalcinosis syndrome

Mooren ulcer

Neurological muscular channelopathy due to a genetic calcium channel defect

OBSOLETE: Channelopathy due to a calcium-activated potassium channel defect

OBSOLETE: Channelopathy due to a cardiac muscle sarcoplasmic reticulum calcium release channel defect

OBSOLETE: Channelopathy due to a neuronal acetylcholine receptor defect

OBSOLETE: Channelopathy due to a skeletal muscle acetylcholine receptor defect

OBSOLETE: Channelopathy due to a skeletal muscle sarcoplasmic reticulum calcium release channel defect

OBSOLETE: Channelopathy due to a voltage-gated calcium channel defect

OBSOLETE: Familial articular chondrocalcinosis type 1

OBSOLETE: CCAL1

OBSOLETE: Familial articular chondrocalcinosis type 2

OBSOLETE: CCAL2

OBSOLETE: Familial primary hypomagnesemia with normocalciuria and normocalcemia

OBSOLETE: Fibrocalculous pancreatopathy

OBSOLETE: FCPD · OBSOLETE: Tropical pancreatic diabetes

OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria

OBSOLETE: Genetic primary hypomagnesemia with normocalciuria

OBSOLETE: Non-pore-loop channelopathy due to Cl- channel Clc2 anomaly

OBSOLETE: Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly

OBSOLETE: Non-pore-loop channelopathy due to Cl- channels kidney CLCKA and CLCKB anomaly

OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter Clc7anomaly

OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter kidney Clc5 anomaly

PLCG2-associated antibody deficiency and immune dysregulation

FACU · Familial atypical cold urticaria

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis

FHHNC · Michellis-Castrillo syndrome

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement

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

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement

FHHNC without severe ocular involvement · HOMG3

Primary hypomagnesemia with secondary hypocalcemia

HOMG1 · HSH

Rare genetic parathyroid disease and phosphocalcic metabolism disorder

Rare parathyroid disease and phosphocalcic metabolism anomaly