Legend:

• Concept Types
  • target (single disease)
  • classification term
  • pathway-based classification term
  • clinical findings
  • multiple types disease
  • single disease
  • disease type

'Schneckenbecken dysplasia' 'SLC35D1-CDG'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)
  • Disorders of O-linked glycosylation
    • Defects in O-xylose glycosaminoglycans
      • Schneckenbecken dysplasia [SLC35D1]

Pathogenesis (new nomenclature)

• 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]

Genetic disorders of glycan synthesis (by systems, signs and symptoms)

• 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]