autosomal recessive
199 results
1 - 100
autosomal 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