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
                • Connective Tissue Diseases
                  • Cutis Laxa
                    • COG7-CDG (GDGDB) [COG7]
                    • ATP6VOA2-CDG [ATP6V0A2]
                    • B4GALT7-CDG [B4GALT7]
                  • Collagen Diseases
                    • Ehlers-Danlos Syndrome
                    • Osteogenesis Imperfecta
                      • Bruck syndrome 2 (GDGDB) [PLOD2]
                      • TMEM165-CDG [TMEM165]
                      • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
                  • B4GALT7-CDG [B4GALT7]
                  • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
                  • Cartilage Diseases
                    • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
                    • Diastrophic dysplasia [SLC26A2]
                    • Achondrogenesis type IB [SLC26A2]
                    • Neonatal osseous dysplasia I [SLC26A2]
                    • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
                    • SLC35D1-CDG [SLC35D1]
                  • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
                  • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                • 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
                • Connective Tissue Diseases
                  • Cutis Laxa
                    • Aspartylglucosaminuria (GDGDB) [AGA]
                  • Mucinoses
                    • Hurler syndrome (GDGDB) [IDUA]
                    • Hurler-Scheie syndrome (GDGDB) [IDUA]
                    • Scheie syndrome (GDGDB) [IDUA]
                    • Mucopolysaccharidosis II (GDGDB) [IDS]
                    • Mucopolysaccharidosis III
                    • Mucopolysaccharidosis IV
                    • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                    • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                • 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]