Legend:

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

'CDG-Ia' 'PMM2-CDG'  (Integration tree)

Pathogenesis (traditional nomenclature)

• 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]

Pathogenesis (new nomenclature)

• 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]

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
          • 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]