autosomal recessive
191 results
1 - 100autosomal recessive
gene
cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Aplastic Anemia
Kidney Disease, Chronic
Acute Kidney Injury
Diabetes Insipidus
porphyria
Hypoparathyroidism
Nephrotic Syndrome
Turcot syndrome
Pericarditis
blindness
Hyponatremia
Newborn Screening
fundus
Polycystic Kidney Disease
peeling skin syndrome
Imerslund syndrome
nephronophthisis
Hypomagnesemia
Pierson syndrome
Werner syndrome
deficiency
Cohen syndrome
DOOR syndrome
Hypoglycemia
parahemophilia
Meier-Gorlin syndrome
acidemia
Jeune syndrome
Hypophosphatemia
pyridoxine dependency
neutropenia
Pendred syndrome
Rotor syndrome
Seckel syndrome
faciocardiomelic syndrome
Gitelman syndrome
Acid-Base Imbalances: Metabolic Acidosis and Alkalosis; Respiratory Acidosis and Alkalosis
Nezelof syndrome
Fountain syndrome
Bloom syndrome
Premature Rupture of Membranes
Freeman-Sheldon syndrome
Alstrom syndrome
merosin
Leber, Theodor
Fukuyama disease
Elejalde syndrome
Stargardt disease
leprechaunism
glycogen storage disease
lethal multiple pterygium syndrome
mucolipidosis
bare lymphocyte syndrome
aciduria
nanism
Pernicious Anemia
disease
Glomerulonephritis, Acute
MDC
Sanjad-Sakati syndrome
Rothmund-Thomson syndrome
ARC syndrome
sulfite oxidase deficiency
Senior-Loken syndrome, Senior-L⊘ken syndrome
oxalosis
hereditary aceruloplasminemia
polycythemia
Iron Deficiency Anemia
Joubert syndrome
sitosterolemia
Mononucleosis, Infectious
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
Amyloidosis
Pulmonary Hypertension
hypoplasia
mitochondrial disease