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autosomal recessive
191 results
1 - 100- autosomal 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