Rare Disease Library

LCAT deficiency

Lecithin-cholesterol acyltransferase deficiency

Laryngotracheoesophageal cleft

Laryngo-tracheo-esophageal cleft · LC

Congenital lipoid adrenal hyperplasia due to STAR deficency

LCAH · CLAH

Fetal akinesia-cerebral and retinal hemorrhage syndrome

Lethal congenital contracture syndrome type 5 · LCCS5

Lattice corneal dystrophy type I

Biber-Haab-Dimmer dystrophy · Classic lattice corneal dystrophy

Lethal congenital contracture syndrome

LCCS

Lethal congenital contracture syndrome type 1

Herva disease · LCCS1

Lethal congenital contracture syndrome type 2

LCCS2 · Multiple contracture syndrome, Israeli-Bedouin type

Lethal congenital contracture syndrome type 3

LCCS3

Leukoencephalopathy with calcifications and cysts

Labrune syndrome · LCC

Light chain deposition disease

LCDD

Lissencephaly with cerebellar hypoplasia

LCH

Littoral cell hemangioma of the spleen

Littoral cell angioma · LCA

LMNA-related cardiocutaneous progeria syndrome

LCPS

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

LCHAD deficiency · LCHADD

Long chain acyl-CoA dehydrogenase deficiency

LCAD

Mantle cell lymphoma

LCM · MCL

3-methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonylglycinuria · MCC deficiency

Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome

Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome

Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

APLAID

Autosomal dominant hypocalcemia

AD hypocalcemia

Autosomal dominant primary hypomagnesemia with hypocalciuria

HOMG2 · Isolated autosomal dominant hypomagnesemia

Autosomal recessive infantile hypercalcemia

Familial infantile hypercalcemia with suppressed intact parathyroid hormone · Infantile hypercalcaemia type 1

Bannayan-Riley-Ruvalcaba syndrome

BRRS · Myhre-Riley-Smith syndrome

Bartter syndrome with hypocalcemia

Bilateral striopallidodentate calcinosis

BSPDC · Cerebrovascular ferrocalcinosis

Calcifying aponeurotic fibroma

Juvenile aponeurotic fibromatosis · Keasby tumor

Calciphylaxis

Calciphylaxis cutis

Carnitine-acylcarnitine translocase deficiency

CACT deficiency

Celiac disease-epilepsy-cerebral calcification syndrome

CEC

Chronic enteropathy associated with SLCO2A1 gene

CEAS

CLCN4-related X-linked intellectual disability syndrome

Raynaud-Claes syndrome

CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome

Colchicine poisoning

Combined immunodeficiency due to LCK deficiency

CID due to LCK deficiency · CID due to lymphocyte-specific protein tyrosine kinase deficiency

Craniosynostosis-intracranial calcifications syndrome

Longman-Tolmie syndrome

Cryptogenic multifocal ulcerous stenosing enteritis

CMUSE

Dyggve-Melchior-Clausen disease

Early-onset calcifying leukoencephalopathy-skeletal dysplasia

BANDDOS · Brain abnormalities-neurodegeneration-dysosteosclerosis disease

Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome

Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome

Hypercalcemic tumoral calcinosis

Familial hypocalciuric hypercalcemia

FBH · FBHH

Familial hypocalciuric hypercalcemia type 1

FHH type 1

Familial hypocalciuric hypercalcemia type 2

FHH type 2

Familial hypocalciuric hypercalcemia type 3

FHH type 3

Familial LCAT deficiency

Complete LCAT deficiency · FLD