Legend:

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

'Temtamy preaxial brachydactyly syndrome'  (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 protein O-glycosylation
      • Defects in O-xylosylglycan synthesis
        • Defect in GAG chain polymerization
          • Temtamy preaxial brachydactyly syndrome [CHSY1]

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

• Genetic disorders of glycan synthesis (by systems, signs and symptoms)
  • Diseases
    • Musculoskeletal Diseases
      • Bone Diseases
        • Bone Diseases, Developmental
          • Dwarfism
            • Temtamy preaxial brachydactyly syndrome [CHSY1]
      • Musculoskeletal Abnormalities
        • Craniofacial Abnormalities
          • Maxillofacial Abnormalities
            • Jaw Abnormalities
              • Cleft Palate
                • Temtamy preaxial brachydactyly syndrome [CHSY1]
              • Micrognathism
                • Temtamy preaxial brachydactyly syndrome [CHSY1]
            • Temtamy preaxial brachydactyly syndrome [CHSY1]
        • Limb Deformities, Congenital
          • Brachydactyly
            • Temtamy preaxial brachydactyly syndrome [CHSY1]
          • Lower Extremity Deformities, Congenital
            • Foot Deformities, Congenital
              • Temtamy preaxial brachydactyly syndrome [CHSY1]
          • Upper Extremity Deformities, Congenital
            • Hand Deformities, Congenital
              • Temtamy preaxial brachydactyly syndrome [CHSY1]
          • Temtamy preaxial brachydactyly syndrome [CHSY1]
        • Temtamy preaxial brachydactyly syndrome [CHSY1]
    • Nervous System Diseases
      • Neurologic Manifestations
        • Neurobehavioral Manifestations
          • Communication Disorders
            • Learning Disorders
              • Temtamy preaxial brachydactyly syndrome [CHSY1]
          • Intellectual Disability
            • Temtamy preaxial brachydactyly syndrome [CHSY1]
    • Otorhinolaryngologic Diseases
      • Ear Diseases
        • Hearing Disorders
          • Hearing Loss
            • Temtamy preaxial brachydactyly syndrome [CHSY1]
    • Pathological Conditions, Signs and Symptoms
      • Pathologic Processes
        • Growth Disorders
          • Temtamy preaxial brachydactyly syndrome [CHSY1]
    • Stomatognathic Diseases
      • Stomatognathic System Abnormalities
        • Mouth Abnormalities
          • Cleft Lip
            • Cleft Palate
              • Temtamy preaxial brachydactyly syndrome [CHSY1]
        • Tooth Abnormalities
          • Temtamy preaxial brachydactyly syndrome [CHSY1]
        • Maxillofacial Abnormalities
          • Jaw Abnormalities
            • Cleft Palate
              • Temtamy preaxial brachydactyly syndrome [CHSY1]
            • Micrognathism
              • Temtamy preaxial brachydactyly syndrome [CHSY1]
  • Psychiatry and Psychology
    • Mental Disorders
      • Mental Disorders Diagnosed in Childhood
        • Intellectual Disability
          • Temtamy preaxial brachydactyly syndrome [CHSY1]
        • Learning Disorders
          • Temtamy preaxial brachydactyly syndrome [CHSY1]