Congenital anomalies with genetic conditions and molecular biology
C

Condition Molecular biology
Achondroplasia Achondroplasia
Adrenogenital syndrome   click here Adrenogenital syndrome
Alkaptonuria Alkaptonuria
Alpha 1-antitrypsin deficiency Alpha-1-antitrypsin deficiency
Alzheimer's disease Alzheimer's disease
Ambiguous female external genitalia Ambiguous external genitalia
Ambiguous male external genitalia Ambiguous external genitalia
Anemia, sickle cell Anemia, sickle cell
Angelman syndrome Angelman syndrome
Asthma Asthma
Ataxia telangectasia Ataxia telengectasia
Atherosclerosis Atherosclerosis
Burkitt's lymphoma Burkitt's lymphoma
Congenital adrenal hyperplasia Congenital adrenal hyperplasia
Crohn's disease Crohn's disease
Cystic fibrosis Cystic ibrosis
Deafness, Congenital- Hereditary hearing impairment Deafness, Cogenital -Hereditary hearing impairment
Diabetes mellitus Diabetes mellitus type 1
Down's syndrome Down's syndrome
Duchenne muscular dystrophy Duchenne muscular dystrophy
Epilepsy Epilepsy
Essential hypertension Essential hypertension
Gaucherís disease Gaucher's disease
Glucose galactose malabsorption Glucose galactose malabsorption
Haemophilia A Hemophilia A
Leukemia, chronic myeloid Leukemia, chronic myeloid
Long QT syndrome Long QT syndrome
Male pattern baldness Male pattern baldness
Marfan syndrome Marfan syndrome
Multiple endocrine neoplasia (MEN 1 and 2) Multiple endocrine neoplasia (MEN 1 and 2)
Myotonic dystrophia Myotonic dystrophia
Neurofibromatosis leading to malignancy Neurofibromatosis type 2
Niemann-Pick disease Niemann-Pick disease
Parkinson's disease Parkinson's disease
Paroxysmal nocturnal hemoglobinuria Paroxysmal nocturnal hemoglobinuria
Phenylketonuria Phenylketonuria
Porphyria Porphyria
Sickle cell anemia Sickle cell anemia
Tay-Sach's disease Tay-Sach's disease
Thalassaemia Thalassemia
Tuberous sclerosis Tuberous sclerosis
Von Hippel-Lindau syndrome von Hippel- Lindau syndrome
William's syndrome William's syndrome
Wilsonís disease Wilson's disease
Zellweger syndrome Zellweger syndrome
   
   
   
   

 

 

 

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