Legend:

• Concept Types
  • target (clinical findings)
  • 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)
        • Hereditary disorders by systems
          • Genetic disorders of glycan synthesis (by systems, signs and symptoms)
            • Diseases
              • Musculoskeletal Diseases
                • Musculoskeletal Abnormalities
                  • Craniofacial Abnormalities
                    • Microcephaly
                      • ALG3-CDG (GDGDB) [ALG3]
                      • DPM1-CDG (GDGDB) [DPM1]
                      • ALG12-CDG (GDGDB) [ALG12]
                      • DPAGT1-CDG (GDGDB) [DPAGT1]
                      • ALG1-CDG (GDGDB) [ALG1]
                      • ALG9-CDG (GDGDB) [ALG9]
                      • DOLK-CDG [TMEM15]
                      • RFT1-CDG [RFT1]
                      • SLC35C1-CDG (GDGDB) [SLC35C1]
                      • COG1-CDG [COG1]
                      • COG8-CDG [COG8]
                      • COG4-CDG [COG4]
                      • ATP6VOA2-CDG [ATP6V0A2]
                      • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
                      • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                      • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
                      • ALG11-CDG [ALG11]
                      • ALG13-CDG [ALG13]
                      • TMEM165-CDG [TMEM165]
                      • COG6-CDG [COG6]
              • Nervous System Diseases
                • Nervous System Malformations
                  • Malformations of Cortical Development
                    • Microcephaly
                      • ALG3-CDG (GDGDB) [ALG3]
                      • DPM1-CDG (GDGDB) [DPM1]
                      • ALG12-CDG (GDGDB) [ALG12]
                      • DPAGT1-CDG (GDGDB) [DPAGT1]
                      • ALG1-CDG (GDGDB) [ALG1]
                      • ALG9-CDG (GDGDB) [ALG9]
                      • DOLK-CDG [TMEM15]
                      • RFT1-CDG [RFT1]
                      • SLC35C1-CDG (GDGDB) [SLC35C1]
                      • COG1-CDG [COG1]
                      • COG8-CDG [COG8]
                      • COG4-CDG [COG4]
                      • ATP6VOA2-CDG [ATP6V0A2]
                      • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
                      • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                      • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
                      • ALG11-CDG [ALG11]
                      • ALG13-CDG [ALG13]
                      • TMEM165-CDG [TMEM165]
                      • COG6-CDG [COG6]
      • Lysosomal Storage Diseases (degradation)
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Diseases
              • Musculoskeletal Diseases
                • Musculoskeletal Abnormalities
                  • Craniofacial Abnormalities
                    • Microcephaly
                      • Aspartylglucosaminuria (GDGDB) [AGA]
              • Nervous System Diseases
                • Nervous System Malformations
                  • Malformations of Cortical Development
                    • Microcephaly
                      • Aspartylglucosaminuria (GDGDB) [AGA]