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
      • Carbohydrate Metabolism, Inborn Errors (synthesis)
        • Pathogenesis
          • Genetic disorders of glycan synthesis (traditional nomenclature)
            • Disorders of O-linked glycosylation
              • Defects in O-mannose glycans
                • Muscle-eye-brain disease (GDGDB) [POMGNT1]
          • Genetic disorders of glycan synthesis (new nomenclature)
            • Congenital disorders of glycosylation (CDGs)
              • Defects in protein O-glycosylation
                • Defects in O-mannosylglycan synthesis
                  • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        • Hereditary disorders by systems
          • Genetic disorders of glycan synthesis (by systems, signs and symptoms)
            • Diseases
              • Eye Diseases
                • Corneal Diseases
                  • Corneal Opacity
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                • Eye Abnormalities
                  • Coloboma
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                  • Hydrophthalmos
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                  • Microphthalmos
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                  • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                  • Retinal Dysplasia
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                • Lens Diseases
                  • Cataract
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                • Ocular Hypertension
                  • Glaucoma
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                • Retinal Diseases
                  • Retinal Degeneration
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                • Eye Diseases, Hereditary
                  • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                  • Optic Atrophies, Hereditary
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                  • Retinal Dysplasia
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                • Refractive Errors
                  • Myopia
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                • Vision Disorders
                  • Blindness
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                  • Vision, Low
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                • Optic Nerve Diseases
                  • Optic Atrophy
                    • Optic Atrophies, Hereditary
                      • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
              • Musculoskeletal Diseases
                • Musculoskeletal Abnormalities
                  • Craniofacial Abnormalities
                    • Macrocephaly
                      • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                    • Microcephaly
                      • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                • Muscular Diseases
                  • Muscle Spasticity
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                  • Muscle Weakness
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                  • Muscular Disorders, Atrophic
                    • Muscular Dystrophies
                      • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
              • Nervous System Diseases
                • Central Nervous System Diseases
                  • Brain Diseases
                    • Intracranial Hypertension
                      • Hydrocephalus
                        • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                    • Cerebellar Diseases
                      • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                    • Hydrocephalus
                      • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                • Nervous System Malformations
                  • Malformations of Cortical Development
                    • Lissencephaly
                      • Cobblestone Lissencephaly
                        • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                    • Neuronal Migration Disorders
                      • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                      • Cobblestone Lissencephaly
                        • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                    • Macrocephaly
                      • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                    • Microcephaly
                      • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                  • Central Nervous System Cysts
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                  • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                • Neurologic Manifestations
                  • Neurobehavioral Manifestations
                    • Communication Disorders
                      • Language Disorders
                        • Speech Disorders
                          • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                    • Intellectual Disability
                      • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                  • Neuromuscular Manifestations
                    • Muscle Hypertonia
                      • Muscle Spasticity
                        • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                    • Muscle Hypotonia
                      • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                    • Muscular Atrophy
                      • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                    • Muscle Weakness
                      • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                  • Sensation Disorders
                    • Vision Disorders
                      • Blindness
                        • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                      • Vision, Low
                        • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                  • Dyskinesias
                    • Myoclonus
                      • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                  • Seizures
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                • Neuromuscular Diseases
                  • Muscular Diseases
                    • Muscular Disorders, Atrophic
                      • Muscular Dystrophies
                        • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                • Cranial Nerve Diseases
                  • Optic Nerve Diseases
                    • Optic Atrophy
                      • Optic Atrophies, Hereditary
                        • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
              • Pathological Conditions, Signs and Symptoms
                • Signs and Symptoms
                  • Mobility Limitation
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
            • Psychiatry and Psychology
              • Mental Disorders
                • Mental Disorders Diagnosed in Childhood
                  • Developmental Disabilities
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                  • Motor Skills Disorders
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                  • Intellectual Disability
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]