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)
            • Defects in N-glycan biosynthesis
              • Disorders of N-linked glycosylation - Congenital disorders of glycosylation (CDGs)
                • Type I CDGs
                  • CDG-Ia (GDGDB) [PMM2]
                    • CDG-Ia, infantile multisystem stage [PMM2]
                    • CDG-Ia, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                    • CDG-Ia, adult stable disability stage [PMM2]
          • Genetic disorders of glycan synthesis (new nomenclature)
            • Congenital disorders of glycosylation (CDGs)
              • Defects in protein N-glycosylation
                • Defects in nucleotide-sugar biosynthesis
                  • PMM2-CDG (GDGDB) [PMM2]
                    • PMM2-CDG, infantile multisystem stage [PMM2]
                    • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                    • PMM2-CDG, adult stable disability stage [PMM2]
        • Hereditary disorders by systems
          • Genetic disorders of glycan synthesis (by systems, signs and symptoms)
            • Diseases
              • Cardiovascular Diseases
                • Cardiovascular Abnormalities
                  • Heart Defects, Congenital
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                • Heart Diseases
                  • Cardiomyopathies
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                  • Pericardial Effusion
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                      • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                      • PMM2-CDG, adult stable disability stage [PMM2]
                • Vascular Diseases
                  • Embolism and Thrombosis
                    • Thrombosis
                      • Venous Thrombosis
                        • PMM2-CDG (GDGDB) [PMM2]
                          • PMM2-CDG, adult stable disability stage [PMM2]
                  • Cerebrovascular Disorders
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                      • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                      • PMM2-CDG, adult stable disability stage [PMM2]
              • Digestive System Diseases
                • Liver Diseases
                  • Hepatic Insufficiency
                    • PMM2-CDG (GDGDB) [PMM2]
                  • Liver Cirrhosis
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                  • PMM2-CDG (GDGDB) [PMM2]
              • Endocrine System Diseases
                • Gonadal Disorders
                  • Disorders of Sex Development
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, adult stable disability stage [PMM2]
                  • Hypogonadism
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                      • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                      • PMM2-CDG, adult stable disability stage [PMM2]
                  • Ovarian Diseases
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, adult stable disability stage [PMM2]
                  • Puberty, Delayed
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, adult stable disability stage [PMM2]
                • Pituitary Diseases
                  • Hyperpituitarism
                    • Hyperprolactinemia
                      • PMM2-CDG (GDGDB) [PMM2]
                        • PMM2-CDG, adult stable disability stage [PMM2]
                • Thyroid Diseases
                  • Hypothyroidism
                    • PMM2-CDG (GDGDB) [PMM2]
                • PMM2-CDG (GDGDB) [PMM2]
                  • PMM2-CDG, adult stable disability stage [PMM2]
              • Eye Diseases
                • Lens Diseases
                  • Cataract
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                • Retinal Diseases
                  • Retinal Degeneration
                    • Retinal Dystrophies
                      • Retinitis Pigmentosa
                        • PMM2-CDG (GDGDB) [PMM2]
                          • PMM2-CDG, infantile multisystem stage [PMM2]
                          • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                          • PMM2-CDG, adult stable disability stage [PMM2]
                • Eye Diseases, Hereditary
                  • Retinitis Pigmentosa
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                      • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                      • PMM2-CDG, adult stable disability stage [PMM2]
                • Refractive Errors
                  • Myopia
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                • Ocular Motility Disorders
                  • Strabismus
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                      • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                      • PMM2-CDG, adult stable disability stage [PMM2]
                    • Esotropia
                      • PMM2-CDG (GDGDB) [PMM2]
                        • PMM2-CDG, infantile multisystem stage [PMM2]
                        • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                        • PMM2-CDG, adult stable disability stage [PMM2]
                • Vision Disorders
                  • Blindness
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                      • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                      • PMM2-CDG, adult stable disability stage [PMM2]
              • Female Urogenital Diseases and Pregnancy Complications
                • Female Urogenital Diseases
                  • Urologic Diseases
                    • Kidney Diseases
                      • Kidney Diseases, Cystic
                        • PMM2-CDG (GDGDB) [PMM2]
                          • PMM2-CDG, infantile multisystem stage [PMM2]
                      • Nephrosis
                        • Nephrotic Syndrome
                          • PMM2-CDG (GDGDB) [PMM2]
                            • PMM2-CDG, infantile multisystem stage [PMM2]
              • Hemic and Lymphatic Diseases
                • Hematologic Diseases
                  • Blood Coagulation Disorders
                    • Coagulation Protein Disorders
                      • PMM2-CDG (GDGDB) [PMM2]
                        • PMM2-CDG, infantile multisystem stage [PMM2]
                        • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                        • PMM2-CDG, adult stable disability stage [PMM2]
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                      • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                      • PMM2-CDG, adult stable disability stage [PMM2]
                  • Blood Protein Disorders
                    • Hypoproteinemia
                      • Hypoalbuminemia
                        • PMM2-CDG (GDGDB) [PMM2]
                          • PMM2-CDG, infantile multisystem stage [PMM2]
              • Male Urogenital Diseases
                • Urologic Diseases
                  • Kidney Diseases
                    • Kidney Diseases, Cystic
                      • PMM2-CDG (GDGDB) [PMM2]
                        • PMM2-CDG, infantile multisystem stage [PMM2]
                    • Nephrosis
                      • Nephrotic Syndrome
                        • PMM2-CDG (GDGDB) [PMM2]
                          • PMM2-CDG, infantile multisystem stage [PMM2]
              • Musculoskeletal Diseases
                • Bone Diseases
                  • Bone Diseases, Developmental
                    • Dwarfism
                      • PMM2-CDG (GDGDB) [PMM2]
                  • Bone Diseases, Metabolic
                    • Osteoporosis
                      • PMM2-CDG (GDGDB) [PMM2]
                  • Spinal Diseases
                    • Spinal Curvatures
                      • PMM2-CDG (GDGDB) [PMM2]
                        • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                        • PMM2-CDG, adult stable disability stage [PMM2]
                • Joint Diseases
                  • Contracture
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                      • PMM2-CDG, adult stable disability stage [PMM2]
                • Musculoskeletal Abnormalities
                  • Craniofacial Abnormalities
                    • Maxillofacial Abnormalities
                      • PMM2-CDG (GDGDB) [PMM2]
                        • PMM2-CDG, infantile multisystem stage [PMM2]
                • Muscular Diseases
                  • Muscle Weakness
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
              • Nervous System Diseases
                • Central Nervous System Diseases
                  • Brain Diseases
                    • Cerebellar Diseases
                      • PMM2-CDG (GDGDB) [PMM2]
                        • PMM2-CDG, infantile multisystem stage [PMM2]
                        • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                        • PMM2-CDG, adult stable disability stage [PMM2]
                    • Epilepsy
                      • PMM2-CDG (GDGDB) [PMM2]
                    • Cerebrovascular Disorders
                      • PMM2-CDG (GDGDB) [PMM2]
                        • PMM2-CDG, infantile multisystem stage [PMM2]
                        • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                        • PMM2-CDG, adult stable disability stage [PMM2]
                • Nervous System Malformations
                  • PMM2-CDG (GDGDB) [PMM2]
                    • PMM2-CDG, infantile multisystem stage [PMM2]
                • Neurodegenerative Diseases
                  • Heredodegenerative Disorders, Nervous System
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                      • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                • Neurologic Manifestations
                  • Neurobehavioral Manifestations
                    • Psychomotor Disorders
                      • PMM2-CDG (GDGDB) [PMM2]
                        • PMM2-CDG, infantile multisystem stage [PMM2]
                    • Communication Disorders
                      • Language Disorders
                        • Speech Disorders
                          • PMM2-CDG (GDGDB) [PMM2]
                            • PMM2-CDG, infantile multisystem stage [PMM2]
                            • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                            • PMM2-CDG, adult stable disability stage [PMM2]
                          • Articulation Disorders
                            • Dysarthria
                              • PMM2-CDG (GDGDB) [PMM2]
                                • PMM2-CDG, infantile multisystem stage [PMM2]
                                • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                                • PMM2-CDG, adult stable disability stage [PMM2]
                    • Intellectual Disability
                      • PMM2-CDG (GDGDB) [PMM2]
                        • PMM2-CDG, infantile multisystem stage [PMM2]
                        • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                        • PMM2-CDG, adult stable disability stage [PMM2]
                  • Neuromuscular Manifestations
                    • Muscle Hypotonia
                      • PMM2-CDG (GDGDB) [PMM2]
                        • PMM2-CDG, infantile multisystem stage [PMM2]
                        • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                    • Muscular Atrophy
                      • PMM2-CDG (GDGDB) [PMM2]
                    • Muscle Weakness
                      • PMM2-CDG (GDGDB) [PMM2]
                        • PMM2-CDG, infantile multisystem stage [PMM2]
                  • Sensation Disorders
                    • Vision Disorders
                      • Blindness
                        • PMM2-CDG (GDGDB) [PMM2]
                          • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                          • PMM2-CDG, adult stable disability stage [PMM2]
                  • Reflex, Abnormal
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                  • Dyskinesias
                    • Ataxia
                      • PMM2-CDG (GDGDB) [PMM2]
                        • PMM2-CDG, infantile multisystem stage [PMM2]
                        • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                        • PMM2-CDG, adult stable disability stage [PMM2]
                  • Seizures
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                      • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                      • PMM2-CDG, adult stable disability stage [PMM2]
                • Neuromuscular Diseases
                  • Peripheral Nervous System Diseases
                    • Polyneuropathy
                      • PMM2-CDG (GDGDB) [PMM2]
                        • PMM2-CDG, infantile multisystem stage [PMM2]
                        • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                        • PMM2-CDG, adult stable disability stage [PMM2]
                • Cranial Nerve Diseases
                  • Ocular Motility Disorders
                    • Strabismus
                      • PMM2-CDG (GDGDB) [PMM2]
                        • PMM2-CDG, infantile multisystem stage [PMM2]
                      • Esotropia
                        • PMM2-CDG (GDGDB) [PMM2]
                          • PMM2-CDG, infantile multisystem stage [PMM2]
              • Pathological Conditions, Signs and Symptoms
                • Pathologic Processes
                  • Growth Disorders
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                  • Hemorrhage
                    • PMM2-CDG (GDGDB) [PMM2]
                • Signs and Symptoms
                  • Edema
                    • Hydrops Fetalis
                      • PMM2-CDG (GDGDB) [PMM2]
                        • PMM2-CDG, infantile multisystem stage [PMM2]
                  • Mobility Limitation
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                      • PMM2-CDG, adult stable disability stage [PMM2]
                  • Signs and Symptoms, Digestive
                    • Diarrhea
                      • PMM2-CDG (GDGDB) [PMM2]
                        • PMM2-CDG, infantile multisystem stage [PMM2]
                    • Vomiting
                      • PMM2-CDG (GDGDB) [PMM2]
                        • PMM2-CDG, infantile multisystem stage [PMM2]
                  • Failure to Thrive
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
              • Skin and Connective Tissue Diseases
                • Skin Diseases
                  • Skin Abnormalities
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
              • Immune System Diseases
                • Immunologic Deficiency Syndromes
                  • PMM2-CDG (GDGDB) [PMM2]
                    • PMM2-CDG, infantile multisystem stage [PMM2]
              • Nutritional and Metabolic Diseases
                • Metabolic Diseases
                  • Glucose Metabolism Disorders
                    • Hyperinsulinism
                      • Insulin Resistance
                        • PMM2-CDG (GDGDB) [PMM2]
                          • PMM2-CDG, adult stable disability stage [PMM2]
                      • PMM2-CDG (GDGDB) [PMM2]
                        • PMM2-CDG, adult stable disability stage [PMM2]
                    • Hypoglycemia
                      • PMM2-CDG (GDGDB) [PMM2]
                        • PMM2-CDG, adult stable disability stage [PMM2]
            • Psychiatry and Psychology
              • Mental Disorders
                • Mental Disorders Diagnosed in Childhood
                  • Developmental Disabilities
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                      • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                  • Feeding and Eating Disorders of Childhood
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                  • Motor Skills Disorders
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                  • Intellectual Disability
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                      • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                      • PMM2-CDG, adult stable disability stage [PMM2]