Legend:

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

'Autosomal recessive multiple epiphyseal dysplasia'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)
  • Disorders of O-linked glycosylation
    • Defects in O-xylose glycosaminoglycans
      • GAG Sulfation Deficiencies
        • Chondrodysplasias (CDs)
          • Other CDs
            • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)
  • Congenital disorders of glycosylation (CDGs)
    • Defects in protein O-glycosylation
      • Defects in O-xylosylglycan synthesis
        • Defective GAG Sulfation
          • Chondrodysplasias (CDs)
            • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]

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

• Genetic disorders of glycan synthesis (by systems, signs and symptoms)
  • Diseases
    • Musculoskeletal Diseases
      • Bone Diseases
        • Bone Diseases, Developmental
          • Dwarfism
            • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        • Spinal Diseases
          • Spinal Curvatures
            • Scoliosis
              • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
      • Joint Diseases
        • Arthritis
          • Osteoarthritis
            • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
      • Musculoskeletal Abnormalities
        • Craniofacial Abnormalities
          • Maxillofacial Abnormalities
            • Jaw Abnormalities
              • Cleft Palate
                • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        • Limb Deformities, Congenital
          • Lower Extremity Deformities, Congenital
            • Foot Deformities, Congenital
              • Clubfoot
                • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
              • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
          • Upper Extremity Deformities, Congenital
            • Hand Deformities, Congenital
              • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
          • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
      • Cartilage Diseases
        • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
    • Nervous System Diseases
      • Neurologic Manifestations
        • Pain
          • Musculoskeletal Pain
            • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
    • Skin and Connective Tissue Diseases
      • Connective Tissue Diseases
        • Cartilage Diseases
          • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
    • Stomatognathic Diseases
      • Stomatognathic System Abnormalities
        • Mouth Abnormalities
          • Cleft Lip
            • Cleft Palate
              • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        • Maxillofacial Abnormalities
          • Jaw Abnormalities
            • Cleft Palate
              • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]