Legend:

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

'Combined saposin deficiency'  (Integration tree)

Pathogenesis

• Genetic disorders of glycan degradation
  • Disorders of sphingolipid metabolism and other lipid storage disorders
    • Sphingolipidosis
      • Sphingolipidosis, unspecified
        • Combined saposin deficiency (GDGDB) [PSAP]

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]