Legend:

• Concept Types
  • target (single disease)
  • classification term
  • pathway-based classification term
  • clinical findings
  • multiple types disease
  • single disease
  • disease type

• Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
  • Genetic Diseases, Inborn
    • Metabolism, Inborn Errors
      • Lysosomal Storage Diseases (degradation)
        • Pathogenesis
          • Genetic disorders of glycan degradation
            • Disorders of sphingolipid metabolism and other lipid storage disorders
              • Sphingolipidosis
                • Other sphingolipidosis
                  • Niemann-Pick disease
                    • Niemann-Pick disease, type C
                      • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Diseases
              • Digestive System Diseases
                • Liver Diseases
                  • Hepatomegaly
                    • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                  • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
              • Eye Diseases
                • Ocular Motility Disorders
                  • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
              • Hemic and Lymphatic Diseases
                • Lymphatic Diseases
                  • Splenic Diseases
                    • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
              • Nervous System Diseases
                • Central Nervous System Diseases
                  • Brain Diseases
                    • Brain Diseases, Metabolic
                      • Brain Diseases, Metabolic, Inborn
                        • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                    • Dementia
                      • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                  • Movement Disorders
                    • Dyskinesias
                      • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                  • Ocular Motility Disorders
                    • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                • Neurologic Manifestations
                  • Dyskinesias
                    • Ataxia
                      • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                    • Dystonia
                      • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                    • Tremor
                      • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                  • Neurobehavioral Manifestations
                    • Communication Disorders
                      • Language Disorders
                        • Speech Disorders
                          • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                      • Learning Disorders
                        • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                    • Intellectual Disability
                      • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                  • Paralysis
                    • Facial Paralysis
                      • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                  • Seizures
                    • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
              • Otorhinolaryngologic Diseases
                • Pharyngeal Diseases
                  • Deglutition Disorders
                    • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
              • Pathological Conditions, Signs and Symptoms
                • Pathologic Processes
                  • Hyperbilirubinemia
                    • Jaundice
                      • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                • Signs and Symptoms
                  • Mobility Limitation
                    • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
              • Respiratory Tract Diseases
                • Lung Diseases
                  • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                • Respiration Disorders
                  • Dyspnea
                    • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                • Respiratory Tract Infections
                  • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
            • Psychiatry and Psychology
              • Behavior and Behavior Mechanisms
                • Behavior
                  • Behavioral Symptoms
                    • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
              • Mental Disorders
                • Mental Disorders Diagnosed in Childhood
                  • Developmental Disabilities
                    • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                  • Feeding and Eating Disorders of Childhood
                    • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                  • Motor Skills Disorders
                    • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                  • Intellectual Disability
                    • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                  • Learning Disorders
                    • Niemann-Pick disease, type C1 (GDGDB) [NPC1]