autosomal recessive
204 results
101 - 200
Sjogren-Larsson syndrome- ochronosis
- Antley-Bixler syndrome
- mitochondrial disease
- juvenile hemochromatosis
- deficiency
- hyperekplexia, hyperexplexia
- Papillon-Lefèvre syndrome
Cystic Fibrosis- ataxia-telangiectasia
- Bernard-Soulier syndrome
- immotile cilia syndrome
- cystinosis
- Liver Failure
Pyruvate Kinase- Pulmonary Hypertension
- Hyperthyroidism
- Laurence-Moon-Biedl syndrome
- xeroderma
- Adrenal Insufficiency (Addison Disease)
- Bietti crystalline dystrophy
- Glanzmann thrombasthenia
- Amyloidosis
- Chédiak-Higashi syndrome
- Zellweger syndrome
- Adrenal Crisis, Acute
- Parkinson Disease
- epidermodysplasia verruciformis
- neuronal ceroid lipofuscinosis
- hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- Glaucoma
- Hypothyroidism
- Platelet Count and Tests of Platelet Function
- Smith-Lemli-Opitz syndrome
- Crigler-Najjar syndrome
- hypophosphatasia
- Esophageal Cancer
- Polycystic Kidney Disease
- Porphyrins, Blood and Urine
- Charcot-Marie-Tooth disease
- Refsum disease
- Iron Deficiency Anemia
- Bilirubin and Bilirubin Fractions
- pyknodysostosis
- atrophy
- Abdominal Aortic Aneurysm
- Niemann-Pick disease
- ichthyosis
- Batten disease
- blue diaper syndrome
- fever
- Laron, Zvi
- Multiple Sclerosis
- Myasthenia Gravis
- Ventricular Dysrhythmias
- Bone Cancer
- Hypochloremia
- Cerebral Aneurysm
- osteopetrosis
- Atrial Dysrhythmias
- Plasminogen and Tissue Plasminogen Activator Antigen
- Muscular Dystrophy
- Sickle Cell Disease
- galactosemia
- Oguchi disease
- Ceruloplasmin
- chromosome
- chronic granulomatous disease
- Copper
- hemoglobin E disease
- hemoglobin C disease
- severe combined immunodeficiency disease
- hyperlipoproteinemia
- tachycardia
- Biopsy, Chorionic Villus
- Genetic Testing
- spherocytosis
- osteogenesis, osteogeny
- polycystic kidney disease
- maple syrup urine disease
- adult polyglucosan body disease
- McArdle disease
- Alpha₁-Antitrypsin and Alpha₁-Antitrypsin Phenotyping
- Apolipoproteins: A, B, and E
- Gaucher, Philippe C. E.
- Wilson disease
- Cholinesterases: Acetylcholinesterase, Pseudocholinesterase and Dibucaine Number
- phenylketonuria
- Phosphorus, Blood and Urine
- Hemoglobin Electrophoresis and Abnormal Hemoglobins
- fibrosis
- Chloride, Sweat