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 (traditional nomenclature)
            • Disorders of O-linked glycosylation
              • Defects in O-xylose glycosaminoglycans
                • Schneckenbecken dysplasia [SLC35D1]
          • Genetic disorders of glycan synthesis (new nomenclature)
            • Congenital disorders of glycosylation (CDGs)
              • Defects in multiple glycosylation and other pathways
                • Defects in nucleotide-sugar transport
                  • SLC35D1-CDG [SLC35D1]
        • Hereditary disorders by systems
          • Genetic disorders of glycan synthesis (by systems, signs and symptoms)
            • Diseases
              • Female Urogenital Diseases and Pregnancy Complications
                • Pregnancy Complications
                  • Polyhydramnios
                    • SLC35D1-CDG [SLC35D1]
              • Musculoskeletal Diseases
                • Bone Diseases
                  • Bone Diseases, Developmental
                    • Dwarfism
                      • SLC35D1-CDG [SLC35D1]
                    • Osteochondrodysplasias
                      • SLC35D1-CDG [SLC35D1]
                    • SLC35D1-CDG [SLC35D1]
                  • Spinal Diseases
                    • Spondylosis
                      • SLC35D1-CDG [SLC35D1]
                • Musculoskeletal Abnormalities
                  • Craniofacial Abnormalities
                    • Maxillofacial Abnormalities
                      • Jaw Abnormalities
                        • Cleft Palate
                          • SLC35D1-CDG [SLC35D1]
                  • Limb Deformities, Congenital
                    • Brachydactyly
                      • SLC35D1-CDG [SLC35D1]
                    • SLC35D1-CDG [SLC35D1]
                  • SLC35D1-CDG [SLC35D1]
                • Cartilage Diseases
                  • SLC35D1-CDG [SLC35D1]
              • Pathological Conditions, Signs and Symptoms
                • Signs and Symptoms
                  • Edema
                    • Hydrops Fetalis
                      • SLC35D1-CDG [SLC35D1]
              • Skin and Connective Tissue Diseases
                • Connective Tissue Diseases
                  • Cartilage Diseases
                    • SLC35D1-CDG [SLC35D1]
              • Stomatognathic Diseases
                • Stomatognathic System Abnormalities
                  • Mouth Abnormalities
                    • Cleft Lip
                      • Cleft Palate
                        • SLC35D1-CDG [SLC35D1]
                  • Maxillofacial Abnormalities
                    • Jaw Abnormalities
                      • Cleft Palate
                        • SLC35D1-CDG [SLC35D1]