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
                • Sphingolipidosis, unspecified
                  • Combined saposin deficiency (GDGDB) [PSAP]
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Diseases
              • Digestive System Diseases
                • Liver Diseases
                  • Hepatomegaly
                    • Combined saposin deficiency (GDGDB) [PSAP]
              • Eye Diseases
                • Optic Nerve Diseases
                  • Optic Atrophy
                    • Optic Atrophies, Hereditary
                      • Combined saposin deficiency (GDGDB) [PSAP]
              • Hemic and Lymphatic Diseases
                • Lymphatic Diseases
                  • Splenic Diseases
                    • Combined saposin deficiency (GDGDB) [PSAP]
              • Nervous System Diseases
                • Central Nervous System Diseases
                  • Movement Disorders
                    • Dyskinesias
                      • Combined saposin deficiency (GDGDB) [PSAP]
                  • Ocular Motility Disorders
                    • Combined saposin deficiency (GDGDB) [PSAP]
                • Demyelinating Diseases
                  • Hereditary Central Nervous System Demyelinating Diseases
                    • Combined saposin deficiency (GDGDB) [PSAP]
                • Nervous System Malformations
                  • Malformations of Cortical Development
                    • Combined saposin deficiency (GDGDB) [PSAP]
                • Neurodegenerative Diseases
                  • Heredodegenerative Disorders, Nervous System
                    • Combined saposin deficiency (GDGDB) [PSAP]
                • Neurologic Manifestations
                  • Dyskinesias
                    • Myoclonus
                      • Combined saposin deficiency (GDGDB) [PSAP]
                    • Hyperkinesis
                      • Combined saposin deficiency (GDGDB) [PSAP]
                  • Neuromuscular Manifestations
                    • Fasciculation
                      • Combined saposin deficiency (GDGDB) [PSAP]
                    • Muscle Hypotonia
                      • Combined saposin deficiency (GDGDB) [PSAP]
                  • Seizures
                    • Combined saposin deficiency (GDGDB) [PSAP]
              • Respiratory Tract Diseases
                • Respiration Disorders
                  • Respiratory Insufficiency
                    • Combined saposin deficiency (GDGDB) [PSAP]
                • Respiratory Tract Infections
                  • Combined saposin deficiency (GDGDB) [PSAP]
            • Psychiatry and Psychology
              • Mental Disorders
                • Mental Disorders Diagnosed in Childhood
                  • Feeding and Eating Disorders of Childhood
                    • Combined saposin deficiency (GDGDB) [PSAP]