autosomal recessive
199 results
1 - 100autosomal recessive
gene
cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Aplastic Anemia
Kidney Disease, Chronic
Kidney Injury, Acute
Diabetes Insipidus
porphyria
Newborn Screening
Acid-Base Imbalances: Metabolic Acidosis and Alkalosis; Respiratory Acidosis and Alkalosis
Hypoparathyroidism
Pericarditis
Turcot syndrome
blindness
Hyponatremia
Hypomagnesemia
fundus
peeling skin syndrome
Imerslund syndrome
nephronophthisis
Pierson syndrome
Werner syndrome
deficiency
Cohen syndrome
DOOR syndrome
parahemophilia
Meier-Gorlin syndrome
Hypophosphatemia
acidemia
Jeune syndrome
pyridoxine dependency
neutropenia
Pendred syndrome
Hypoglycemia
Rotor syndrome
Seckel syndrome
faciocardiomelic syndrome
Gitelman syndrome
Nezelof syndrome
Fountain syndrome
Bloom syndrome
Fukuyama disease
Freeman-Sheldon syndrome
Alstrom syndrome
merosin
Leber, Theodor
disease
Elejalde syndrome
Stargardt disease
leprechaunism
glycogen storage disease
lethal multiple pterygium syndrome
mucolipidosis
bare lymphocyte syndrome
aciduria
nanism
Pernicious Anemia
MDC
Sanjad-Sakati syndrome
Rothmund-Thomson syndrome
ARC syndrome
sulfite oxidase deficiency
Premature Rupture of Membranes
Senior-Loken syndrome, Senior-L⊘ken syndrome
oxalosis
hereditary aceruloplasminemia
polycythemia
Joubert syndrome
sitosterolemia
Mononucleosis, Infectious
Glomerulonephritis, Acute
myeloperoxidase deficiency syndrome
Lafora, Gonzalo R
fucosidosis
Hartnup disease
Unverricht disease, Unverricht syndrome
Usher syndrome
Sjogren-Larsson syndrome
sialidosis
methionine malabsorption syndrome
albinism
Miyoshi myopathy
proteinosis
Salla disease
pseudoxanthoma
Antley-Bixler syndrome
Farber disease
hyperekplexia, hyperexplexia
neuroacanthosis
hypoplasia
mitochondrial disease
Hyperlipoproteinemia