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Query OMIM entry list
257220
NPC1
NIEMANN-PICK DISEASE, TYPE C1
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Musculoskeletal Diseases
Bone Diseases
Bone Diseases, Metabolic
Mucolipidoses
Muscular Diseases
Digestive System Diseases
Liver Diseases
Hepatitis
Hepatomegaly
Liver Cirrhosis
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Basal Ganglia Diseases
Parkinsonian Disorders
Parkinson Disease
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Mucolipidoses
Sphingolipidoses
Gaucher Disease
Niemann-Pick Diseases
Niemann-Pick Disease, Type C
Sea-Blue Histiocyte Syndrome
Cerebellar Diseases
Cerebellar Ataxia
Dementia
Alzheimer Disease
Epilepsy
Epilepsy, Generalized
Epilepsy, Tonic-Clonic
Seizures
Movement Disorders
Parkinsonian Disorders
Parkinson Disease
Cranial Nerve Diseases
Ocular Motility Disorders
Nystagmus, Pathologic
Ophthalmoplegia
Nervous System Malformations
Hereditary Sensory and Motor Neuropathy
Spastic Paraplegia, Hereditary
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
Hereditary Sensory and Motor Neuropathy
Spastic Paraplegia, Hereditary
Motor Neuron Disease
Bulbar Palsy, Progressive
Parkinson Disease
Tauopathies
Alzheimer Disease
Neurologic Manifestations
Dyskinesias
Ataxia
Cerebellar Ataxia
Dystonia
Tremor
Gait Disorders, Neurologic
Neurobehavioral Manifestations
Communication Disorders
Language Disorders
Speech Disorders
Intellectual Disability
Paralysis
Ophthalmoplegia
Seizures
Neuromuscular Diseases
Motor Neuron Disease
Bulbar Palsy, Progressive
Muscular Diseases
Peripheral Nervous System Diseases
Polyneuropathies
Hereditary Sensory and Motor Neuropathy
Spastic Paraplegia, Hereditary
Eye Diseases
Ocular Motility Disorders
Nystagmus, Pathologic
Ophthalmoplegia
Hemic and Lymphatic Diseases
Hematologic Diseases
Bone Marrow Diseases
Lymphatic Diseases
Histiocytosis
Histiocytosis, Non-Langerhans-Cell
Niemann-Pick Diseases
Niemann-Pick Disease, Type C
Sea-Blue Histiocyte Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Nervous System Malformations
Hereditary Sensory and Motor Neuropathy
Spastic Paraplegia, Hereditary
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Hereditary Sensory and Motor Neuropathy
Spastic Paraplegia, Hereditary
Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Mucolipidoses
Sphingolipidoses
Gaucher Disease
Niemann-Pick Diseases
Niemann-Pick Disease, Type C
Sea-Blue Histiocyte Syndrome
Carbohydrate Metabolism, Inborn Errors
Mucolipidoses
Mucopolysaccharidoses
Lipid Metabolism, Inborn Errors
Lipidoses
Sphingolipidoses
Gaucher Disease
Niemann-Pick Diseases
Niemann-Pick Disease, Type C
Sea-Blue Histiocyte Syndrome
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Mucolipidoses
Sphingolipidoses
Gaucher Disease
Niemann-Pick Diseases
Niemann-Pick Disease, Type C
Sea-Blue Histiocyte Syndrome
Mucopolysaccharidoses
Metal Metabolism, Inborn Errors
Skin and Connective Tissue Diseases
Connective Tissue Diseases
Mucinoses
Mucopolysaccharidoses
Nutritional and Metabolic Diseases
Metabolic Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Mucolipidoses
Sphingolipidoses
Gaucher Disease
Niemann-Pick Diseases
Niemann-Pick Disease, Type C
Sea-Blue Histiocyte Syndrome
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Lipidoses
Sphingolipidoses
Gaucher Disease
Niemann-Pick Diseases
Niemann-Pick Disease, Type C
Sea-Blue Histiocyte Syndrome
Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Mucolipidoses
Sphingolipidoses
Gaucher Disease
Niemann-Pick Diseases
Niemann-Pick Disease, Type C
Sea-Blue Histiocyte Syndrome
Carbohydrate Metabolism, Inborn Errors
Mucolipidoses
Mucopolysaccharidoses
Lipid Metabolism, Inborn Errors
Lipidoses
Sphingolipidoses
Gaucher Disease
Niemann-Pick Diseases
Niemann-Pick Disease, Type C
Sea-Blue Histiocyte Syndrome
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Mucolipidoses
Sphingolipidoses
Gaucher Disease
Niemann-Pick Diseases
Niemann-Pick Disease, Type C
Sea-Blue Histiocyte Syndrome
Mucopolysaccharidoses
Metal Metabolism, Inborn Errors
Animal Diseases
Cat Diseases
Disease Models, Animal
Pathological Conditions, Signs and Symptoms
Pathological Conditions, Anatomical
Hypertrophy
Hepatomegaly
Splenomegaly
Pathologic Processes
Disease
Syndrome
Disease Attributes
Disease Progression
Signs and Symptoms
Neurologic Manifestations
Dyskinesias
Ataxia
Cerebellar Ataxia
Dystonia
Tremor
Gait Disorders, Neurologic
Neurobehavioral Manifestations
Communication Disorders
Language Disorders
Speech Disorders
Intellectual Disability
Paralysis
Ophthalmoplegia
Seizures
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