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 (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]
        • Hereditary disorders by systems
          • 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]