Legend:

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

'Peters-plus syndrome' 'B3GALTL-CDG'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)
  • Disorders of O-linked glycosylation
    • Defects in O-fucosylglycan synthesis
      • Peters-plus syndrome [B3GALTL]

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)
  • Congenital disorders of glycosylation (CDGs)
    • Defects in protein O-glycosylation
      • Defects in O-fucosylglycan synthesis
        • B3GALTL-CDG [B3GALTL]

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
          • B3GALTL-CDG [B3GALTL]
    • Eye Diseases
      • Corneal Diseases
        • Corneal Opacity
          • B3GALTL-CDG [B3GALTL]
        • Corneal Dystrophies, Hereditary
          • B3GALTL-CDG [B3GALTL]
      • Eye Abnormalities
        • B3GALTL-CDG [B3GALTL]
      • Lens Diseases
        • Cataract
          • B3GALTL-CDG [B3GALTL]
        • B3GALTL-CDG [B3GALTL]
      • Ocular Hypertension
        • Glaucoma
          • B3GALTL-CDG [B3GALTL]
      • Eye Diseases, Hereditary
        • Corneal Dystrophies, Hereditary
          • B3GALTL-CDG [B3GALTL]
      • Vision Disorders
        • Vision, Low
          • B3GALTL-CDG [B3GALTL]
    • Female Urogenital Diseases and Pregnancy Complications
      • Female Urogenital Diseases
        • Urogenital Abnormalities
          • B3GALTL-CDG [B3GALTL]
    • Male Urogenital Diseases
      • Urogenital Abnormalities
        • B3GALTL-CDG [B3GALTL]
    • Musculoskeletal Diseases
      • Bone Diseases
        • Bone Diseases, Developmental
          • Dwarfism
            • B3GALTL-CDG [B3GALTL]
      • Musculoskeletal Abnormalities
        • Craniofacial Abnormalities
          • Macrocephaly
            • B3GALTL-CDG [B3GALTL]
          • Maxillofacial Abnormalities
            • B3GALTL-CDG [B3GALTL]
            • Jaw Abnormalities
              • Cleft Palate
                • B3GALTL-CDG [B3GALTL]
              • Micrognathism
                • B3GALTL-CDG [B3GALTL]
        • Limb Deformities, Congenital
          • Brachydactyly
            • B3GALTL-CDG [B3GALTL]
          • Lower Extremity Deformities, Congenital
            • B3GALTL-CDG [B3GALTL]
          • Upper Extremity Deformities, Congenital
            • Hand Deformities, Congenital
              • B3GALTL-CDG [B3GALTL]
            • B3GALTL-CDG [B3GALTL]
    • Nervous System Diseases
      • Central Nervous System Diseases
        • Brain Diseases
          • Hydrocephalus
            • B3GALTL-CDG [B3GALTL]
      • Nervous System Malformations
        • Malformations of Cortical Development
          • Macrocephaly
            • B3GALTL-CDG [B3GALTL]
        • B3GALTL-CDG [B3GALTL]
      • Neurodegenerative Diseases
        • Heredodegenerative Disorders, Nervous System
          • B3GALTL-CDG [B3GALTL]
      • Neurologic Manifestations
        • Neurobehavioral Manifestations
          • Intellectual Disability
            • B3GALTL-CDG [B3GALTL]
        • Sensation Disorders
          • Vision Disorders
            • Vision, Low
              • B3GALTL-CDG [B3GALTL]
    • Otorhinolaryngologic Diseases
      • Ear Diseases
        • Hearing Disorders
          • Hearing Loss
            • B3GALTL-CDG [B3GALTL]
    • Pathological Conditions, Signs and Symptoms
      • Pathologic Processes
        • Growth Disorders
          • Fetal Growth Retardation
            • B3GALTL-CDG [B3GALTL]
          • B3GALTL-CDG [B3GALTL]
    • Stomatognathic Diseases
      • Stomatognathic System Abnormalities
        • Mouth Abnormalities
          • Cleft Lip
            • B3GALTL-CDG [B3GALTL]
            • Cleft Palate
              • B3GALTL-CDG [B3GALTL]
        • Maxillofacial Abnormalities
          • Jaw Abnormalities
            • Cleft Palate
              • B3GALTL-CDG [B3GALTL]
            • Micrognathism
              • B3GALTL-CDG [B3GALTL]
  • Psychiatry and Psychology
    • Mental Disorders
      • Mental Disorders Diagnosed in Childhood
        • Developmental Disabilities
          • B3GALTL-CDG [B3GALTL]
        • Feeding and Eating Disorders of Childhood
          • B3GALTL-CDG [B3GALTL]
        • Intellectual Disability
          • B3GALTL-CDG [B3GALTL]