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Query OMIM entry list
214950
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BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4
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Digestive System Diseases
Biliary Tract Diseases
Bile Duct Diseases
Cholestasis
Liver Diseases
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
Niemann-Pick Diseases
Nervous System Malformations
Hereditary Sensory and Motor Neuropathy
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
Hereditary Sensory and Motor Neuropathy
Neuromuscular Diseases
Peripheral Nervous System Diseases
Polyneuropathies
Hereditary Sensory and Motor Neuropathy
Hemic and Lymphatic Diseases
Lymphatic Diseases
Histiocytosis
Histiocytosis, Non-Langerhans-Cell
Niemann-Pick Diseases
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Nervous System Malformations
Hereditary Sensory and Motor Neuropathy
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Hereditary Sensory and Motor Neuropathy
Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
Niemann-Pick Diseases
Lipid Metabolism, Inborn Errors
Lipidoses
Sphingolipidoses
Niemann-Pick Diseases
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
Niemann-Pick Diseases
Nutritional and Metabolic Diseases
Metabolic Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
Niemann-Pick Diseases
Lipid Metabolism Disorders
Lipidoses
Sphingolipidoses
Niemann-Pick Diseases
Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
Niemann-Pick Diseases
Lipid Metabolism, Inborn Errors
Lipidoses
Sphingolipidoses
Niemann-Pick Diseases
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
Niemann-Pick Diseases
Pathological Conditions, Signs and Symptoms
Pathologic Processes
Disease
Syndrome
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