Rare Disease Library

Congenital factor XIII deficiency

Fibrin-stabilizing factor deficiency

Congenital fibrinogen deficiency

Congenital Gerbode defect

Left ventricular-to-right atrial communication

Congenital high-molecular-weight kininogen deficiency

Congenital hyperinsulinism due to HNF4A deficiency

Hyperinsulinemic hypoglycemia due to HNF4A deficiency

Congenital intrinsic factor deficiency

Congenital pernicious anemia · Gastric intrinsic factor deficiency

Congenital isolated ACTH deficiency

Congenital lactase deficiency

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

COX deficiency, French-Canadian type · Cytochrome C oxidase deficiency, French-Canadian type

Congenital long QT syndrome

Congenital LQTS

Congenital muscular dystrophy with integrin alpha-7 deficiency

Congenital muscular dystrophy with ITGA7 deficiency

Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency

MKL1-related neutrophil motility defect · Congenital neutropenia-combined immunodeficiency due to Megakaryoblastic leukemia 1 deficiency

Congenital neutropenia-myelofibrosis-nephromegaly syndrome

Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome · VPS45 deficiency

Congenital plasminogen activator inhibitor type 1 deficiency

Congenital PAI-1 deficiency

Congenital prekallikrein deficiency

Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome

MYSM1 deficiency

Congenital pulmonary vein atresia

Congenital PVA · CPVA

Congenital short QT syndrome

Congenital SQTS

Congenital sodium diarrhea

Na-H exchanger 3 deficiency · CSD

Congenital sucrase-isomaltase deficiency

CSID · Congenital sucrose intolerance

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

Congenital vertebral-cardiac-renal anomalies syndrome

Congenital NAD deficiency disorder

Congenital vertical talus

Congenital convex foot · Congenital convex pes valgus

Congenital vitamin K-dependent coagulation factors deficiency

Constitutional megaloblastic anemia with severe neurologic disease

DHFR deficiency · Dihydrofolate reductase deficiency

Deficiency of adenosine deaminase 2

Adenosine deaminase 2 deficiency · ADA2 deficiency

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

Dimethylglycine dehydrogenase deficiency

DMG dehydrogenase deficiency · DMGDH deficiency

Dopa-responsive dystonia due to sepiapterin reductase deficiency

Autosomal recessive sepiapterin reductase-deficient DRD · DRD due to SRD

Dopamine beta-hydroxylase deficiency

DBH deficiency

Early-onset epilepsy-intellectual disability-brain anomalies syndrome

Congenital disorder of glycosylation due to PIGG deficiency · PIGG-CDG

Epileptic encephalopathy with global cerebral demyelination

AGC1 deficiency · Mitochondrial aspartate-glutamate carrier 1 deficiency

Familial benign copper deficiency

Familial benign hypocupremia

Familial lipoprotein lipase deficiency

LPL deficiency

Familial renal glucosuria

Familial renal glycosuria · SGLT2 deficiency

Fatal infantile cytochrome C oxidase deficiency

Fatal infantile COX deficiency · Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency

Fatty acyl-CoA reductase 1 deficiency

PFCRD · FAR1 deficiency

Formiminoglutamic aciduria

FTCD deficiency · Formiminotransferase cyclodeaminase deficiency

Fructose-1,6-bisphosphatase deficiency

FBPase deficiency · Fructose-1,6-diphosphatase deficiency

Fumaric aciduria

Fumarase deficiency

Galactokinase deficiency

GALK deficiency · GALK-D

Galactose epimerase deficiency

Epimerase deficiency galactosemia · GALE deficiency

Glucose-galactose malabsorption

CGGM · Congenital glucose-galactose malabsorption

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

G6P translocase deficiency · G6PT deficiency

Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form

Glycogen storage disease type IV, congenital neuromuscular form · Glycogenosis type IV, congenital neuromuscular form

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

Glycogen storage disease due to lactate dehydrogenase deficiency

GSD due to lactate dehydrogenase deficiency · Glycogenosis due to lactate dehydrogenase deficiency