autosomal recessive
204 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
- Hyponatremia
- Pericarditis
- Acid-Base Imbalances: Metabolic Acidosis and Alkalosis; Respiratory Acidosis and Alkalosis
Newborn Screening- Hypomagnesemia
- porphyria
- fundus
- blindness
- Hypoparathyroidism
- Turcot syndrome
- deficiency
- nephronophthisis
- peeling skin syndrome
- Pierson syndrome
- DOOR syndrome
- Imerslund syndrome
- parahemophilia
- Rotor syndrome
- neutropenia
- Werner syndrome
- Hypoglycemia
- Hypophosphatemia
- Meier-Gorlin syndrome
- acidemia
- Cohen syndrome
- pyridoxine dependency
- Jeune syndrome
- Fountain syndrome
- Pernicious Anemia
- merosin
- Pendred syndrome
- Leber, Theodor
- aciduria
- Premature Rupture of Membranes
- Fukuyama disease
- leprechaunism
- Nezelof syndrome
- Bloom syndrome
- sulfite oxidase deficiency
- Seckel syndrome
- bare lymphocyte syndrome
- faciocardiomelic syndrome
- nanism
- MDC
- Freeman-Sheldon syndrome
- oxalosis
- Gitelman syndrome
- Stargardt disease
- glycogen storage disease
- Rothmund-Thomson syndrome
- ARC syndrome
- disease
- hereditary aceruloplasminemia
- polycythemia
- albinism
- Elejalde syndrome
- mucolipidosis
- Joubert syndrome
- proteinosis
- Hartnup disease
- Glomerulonephritis, Acute
- Alstrom syndrome
- lethal multiple pterygium syndrome
- Miyoshi myopathy
- Usher syndrome
- Mononucleosis, Infectious
- Salla disease
- methionine malabsorption syndrome
- sitosterolemia
- Sanjad-Sakati syndrome
- Lafora, Gonzalo R
- fucosidosis
- Unverricht disease, Unverricht syndrome
- Postpartum Hemorrhage
- Senior-Loken syndrome, Senior-L⊘ken syndrome
- hyperplasia
- pseudoxanthoma
- sialidosis
- hypoplasia
- myeloperoxidase deficiency syndrome
- Farber disease
- fetal akinesia deformation sequence
- neuroacanthosis
- Wolman disease
- Hyperlipoproteinemia