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Autoimmune / Autoinflammatory diseases
Bacterial infections
Behavioral and mental disorders
Blood Diseases
Chromosome Disorders
Congenital and Genetic Diseases
Connective tissue diseases
Digestive Diseases
Ear, Nose, and Throat Diseases
Endocrine Diseases
Environmental Diseases
Eye diseases
Female Reproductive Diseases
Fungal infections
Heart Diseases
Hereditary Cancer Syndromes
Immune System Diseases
Kidney and Urinary Diseases
Lung Diseases
Male Reproductive Diseases
Metabolic disorders
Mouth Diseases
Musculoskeletal Diseases
Myelodysplastic Syndromes
Nervous System Diseases
Newborn Screening
Nutritional diseases
Parasitic diseases
Rare Cancers
RDCRN
Skin Diseases
Viral infections
Newborn Screening
2,4-Dienoyl-CoA reductase deficiency
2-methylbutyryl-CoA dehydrogenase deficiency
21-hydroxylase deficiency
3-alpha hydroxyacyl-CoA dehydrogenase deficiency
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
Alpha-1 antitrypsin deficiency
Autosomal dominant type B hypercholesterolemia
- Not a rare disease
Barth syndrome
Becker muscular dystrophy
Beta ketothiolase deficiency
Biotinidase deficiency
Carbamoyl phosphate synthetase 1 deficiency
Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyltransferase 2 deficiency
Carnitine-acylcarnitine translocase deficiency
Citrullinemia type I
Citrullinemia type II
Congenital cytomegalovirus
Congenital human immunodeficiency virus
Congenital hypothyroidism
Congenital toxoplasmosis
- Not a rare disease
Cystic fibrosis
Diabetes mellitus type 1
- Not a rare disease
Duchenne muscular dystrophy
Ethylmalonic encephalopathy
Fragile X syndrome
Galactokinase deficiency
Galactose epimerase deficiency
Galactosemia
Glucose-6-phosphate dehydrogenase deficiency
Glutamate formiminotransferase deficiency
Glutaric acidemia type I
Glutaric acidemia type II
Glycine N-methyltransferase deficiency
Gyrate atrophy of choroid and retina
Hemoglobin E disease
Hemoglobin SC disease
HMG CoA lyase deficiency
Holocarboxylase synthetase deficiency
Homocystinuria due to CBS deficiency
HSD10 disease
Hyperlysinemia
Hyperprolinemia
Hyperprolinemia type 2
Isobutyryl-CoA dehydrogenase deficiency
Isovaleric acidemia
Kernicterus
Krabbe disease
L-arginine:glycine amidinotransferase deficiency
LCHAD deficiency
Malonyl-CoA decarboxylase deficiency
Maple syrup urine disease
Medium-chain 3-ketoacyl-coa thiolase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Methionine adenosyltransferase deficiency
Methylmalonic acidemia
Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria type cblD - See
Methylmalonic acidemia with homocystinuria
Methylmalonic aciduria, cblA type - See
Adenosylcobalamin deficiency
Methylmalonic aciduria, cblB type - See
Adenosylcobalamin deficiency
Mild phenylketonuria
Mitochondrial trifunctional protein deficiency
Mucopolysaccharidosis type I
Not otherwise specified 3-MGA-uria type
OPA3 defect
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency syndrome
Phenylketonuria
Primary carnitine deficiency
Propionic acidemia
Severe combined immunodeficiency due to complete RAG1/2 deficiency
Short-chain acyl-CoA dehydrogenase deficiency
Sickle beta thalassemia
Sickle cell anemia
Tetrahydrobiopterin deficiency
Turner syndrome
Tyrosinemia type 1
Tyrosinemia type 2
Tyrosinemia type 3
VLCAD deficiency
Wilson disease
X-linked creatine deficiency
X-linked severe combined immunodeficiency