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
              • Skin and Connective Tissue Diseases
                • Skin Diseases
                  • Skin Abnormalities
                    • Ichthyosis
                      • DOLK-CDG [TMEM15]
                      • SRD5A3-CDG [SRD5A3]
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                    • MPDU1-CDG (GDGDB) [MPDU1]
                    • GALNT3-CDG [GALNT3]
                    • Ehlers-Danlos Syndrome
                      • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
                    • ALG11-CDG [ALG11]
                    • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                  • Dermatitis
                    • Dermatitis, Exfoliative
                      • MPDU1-CDG (GDGDB) [MPDU1]
                  • Hair Diseases
                    • Hypotrichosis
                      • Alopecia
                        • DOLK-CDG [TMEM15]
                    • Hypertrichosis
                      • SRD5A3-CDG [SRD5A3]
                  • Skin Diseases, Genetic
                    • Ehlers-Danlos Syndrome
                      • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
                    • ALG11-CDG [ALG11]
                    • SRD5A3-CDG [SRD5A3]
                    • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
                    • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
      • Lysosomal Storage Diseases (degradation)
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Diseases
              • Skin and Connective Tissue Diseases
                • Skin Diseases
                  • Skin Abnormalities
                    • Ichthyosis
                      • Gaucher disease, type II (GDGDB) [GBA]
                        • Gaucher disease, type II, perinatal lethal form [GBA]
                      • Multiple sulfatase deficiency (GDGDB) [SUMF1]
                    • Gaucher disease, type II (GDGDB) [GBA]
                      • Gaucher disease, type II, perinatal lethal form [GBA]
                  • Sweat Gland Diseases
                    • Hypohidrosis
                      • Fabry disease (GDGDB) [GLA]
                  • Fabry disease (GDGDB) [GLA]