Legend:

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

'SRD5A3-CDG'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)
  • Congenital disorders of glycosylation (CDGs)
    • Defects in multiple glycosylation and other pathways
      • Defects in dolichol biosynthesis
        • SRD5A3-CDG [SRD5A3]

Genetic disorders of glycan synthesis (by systems, signs and symptoms)

• Genetic disorders of glycan synthesis (by systems, signs and symptoms)
  • Diseases
    • Cardiovascular Diseases
      • Cardiovascular Abnormalities
        • Heart Defects, Congenital
          • SRD5A3-CDG [SRD5A3]
      • Heart Diseases
        • SRD5A3-CDG [SRD5A3]
    • Digestive System Diseases
      • Liver Diseases
        • SRD5A3-CDG [SRD5A3]
    • Endocrine System Diseases
      • SRD5A3-CDG [SRD5A3]
    • Eye Diseases
      • Eye Abnormalities
        • Coloboma
          • SRD5A3-CDG [SRD5A3]
        • SRD5A3-CDG [SRD5A3]
      • Lens Diseases
        • Cataract
          • SRD5A3-CDG [SRD5A3]
      • Eye Diseases, Hereditary
        • Optic Atrophies, Hereditary
          • SRD5A3-CDG [SRD5A3]
        • SRD5A3-CDG [SRD5A3]
      • Ocular Motility Disorders
        • Nystagmus, Pathologic
          • Nystagmus, Congenital
            • SRD5A3-CDG [SRD5A3]
      • Vision Disorders
        • Blindness
          • SRD5A3-CDG [SRD5A3]
      • Optic Nerve Diseases
        • Optic Atrophy
          • Optic Atrophies, Hereditary
            • SRD5A3-CDG [SRD5A3]
        • SRD5A3-CDG [SRD5A3]
    • Hemic and Lymphatic Diseases
      • Hematologic Diseases
        • Anemia
          • SRD5A3-CDG [SRD5A3]
        • Blood Coagulation Disorders
          • Coagulation Protein Disorders
            • SRD5A3-CDG [SRD5A3]
          • SRD5A3-CDG [SRD5A3]
    • Musculoskeletal Diseases
      • Bone Diseases
        • Spinal Diseases
          • Spinal Curvatures
            • Kyphosis
              • SRD5A3-CDG [SRD5A3]
      • Musculoskeletal Abnormalities
        • Craniofacial Abnormalities
          • Maxillofacial Abnormalities
            • SRD5A3-CDG [SRD5A3]
    • Nervous System Diseases
      • Central Nervous System Diseases
        • Brain Diseases
          • Cerebellar Diseases
            • SRD5A3-CDG [SRD5A3]
        • Movement Disorders
          • SRD5A3-CDG [SRD5A3]
      • Nervous System Malformations
        • SRD5A3-CDG [SRD5A3]
      • Neurodegenerative Diseases
        • Heredodegenerative Disorders, Nervous System
          • SRD5A3-CDG [SRD5A3]
      • Neurologic Manifestations
        • Neurobehavioral Manifestations
          • Intellectual Disability
            • SRD5A3-CDG [SRD5A3]
        • Neuromuscular Manifestations
          • Muscle Hypotonia
            • SRD5A3-CDG [SRD5A3]
        • Sensation Disorders
          • Vision Disorders
            • Blindness
              • SRD5A3-CDG [SRD5A3]
        • Dyskinesias
          • Ataxia
            • SRD5A3-CDG [SRD5A3]
      • Cranial Nerve Diseases
        • Ocular Motility Disorders
          • Nystagmus, Pathologic
            • Nystagmus, Congenital
              • SRD5A3-CDG [SRD5A3]
        • Optic Nerve Diseases
          • Optic Atrophy
            • Optic Atrophies, Hereditary
              • SRD5A3-CDG [SRD5A3]
          • SRD5A3-CDG [SRD5A3]
    • Skin and Connective Tissue Diseases
      • Skin Diseases
        • Skin Abnormalities
          • Ichthyosis
            • SRD5A3-CDG [SRD5A3]
        • Hair Diseases
          • Hypertrichosis
            • SRD5A3-CDG [SRD5A3]
        • Skin Diseases, Genetic
          • SRD5A3-CDG [SRD5A3]
  • Psychiatry and Psychology
    • Mental Disorders
      • Mental Disorders Diagnosed in Childhood
        • Developmental Disabilities
          • SRD5A3-CDG [SRD5A3]
        • Motor Skills Disorders
          • SRD5A3-CDG [SRD5A3]
        • Intellectual Disability
          • SRD5A3-CDG [SRD5A3]