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
              • Endocrine System Diseases
                • Gonadal Disorders
                  • Disorders of Sex Development
                    • Adrenogenital Syndrome
                      • Hyperandrogenism
                        • ALG6-CDG (GDGDB) [ALG6]
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, adult stable disability stage [PMM2]
                    • ALG6-CDG (GDGDB) [ALG6]
                  • 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]
                    • ALG12-CDG (GDGDB) [ALG12]
                    • ALG1-CDG (GDGDB) [ALG1]
                  • 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]
                    • ALG6-CDG (GDGDB) [ALG6]
                    • MGAT2-CDG (GDGDB) [MGAT2]
                • Pituitary Diseases
                  • Hyperpituitarism
                    • Hyperprolactinemia
                      • PMM2-CDG (GDGDB) [PMM2]
                        • PMM2-CDG, adult stable disability stage [PMM2]
                • Thyroid Diseases
                  • Hypothyroidism
                    • PMM2-CDG (GDGDB) [PMM2]
                    • ALG8-CDG (GDGDB) [ALG8]
                • PMM2-CDG (GDGDB) [PMM2]
                  • PMM2-CDG, adult stable disability stage [PMM2]
                • ALG6-CDG (GDGDB) [ALG6]
                • SRD5A3-CDG [SRD5A3]
                • TMEM165-CDG [TMEM165]
      • Lysosomal Storage Diseases (degradation)
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Diseases
              • Endocrine System Diseases
                • Adrenal Gland Diseases
                  • Wolman disease (GDGDB) [LIPA]