Legend:

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

'Hyperphosphatasia with mental retardation syndrome 1'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)
  • Congenital disorders of glycosylation (CDGs)
    • Defects in glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
      • Disorders of glycosylphosphatidylinositol anchor biosynthesis
        • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]

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

• Genetic disorders of glycan synthesis (by systems, signs and symptoms)
  • Diseases
    • Cardiovascular Diseases
      • Cardiovascular Abnormalities
        • Heart Defects, Congenital
          • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
      • Heart Diseases
        • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
    • Digestive System Diseases
      • Digestive System Abnormalities
        • Anus, Imperforate
          • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
    • Musculoskeletal Diseases
      • Musculoskeletal Abnormalities
        • Craniofacial Abnormalities
          • Craniofacial Dysostosis
            • Hypertelorism
              • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
          • Maxillofacial Abnormalities
            • Jaw Abnormalities
              • Cleft Palate
                • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
            • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        • Limb Deformities, Congenital
          • Brachydactyly
            • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
          • Lower Extremity Deformities, Congenital
            • Foot Deformities, Congenital
              • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
          • Upper Extremity Deformities, Congenital
            • Hand Deformities, Congenital
              • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
    • Nervous System Diseases
      • Central Nervous System Diseases
        • Brain Diseases
          • Epilepsy
            • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
      • Demyelinating Diseases
        • Hereditary Central Nervous System Demyelinating Diseases
          • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
      • Neurodegenerative Diseases
        • Heredodegenerative Disorders, Nervous System
          • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
      • Neurologic Manifestations
        • Neurobehavioral Manifestations
          • Communication Disorders
            • Language Disorders
              • Speech Disorders
                • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
            • Learning Disorders
              • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
          • Intellectual Disability
            • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        • Neuromuscular Manifestations
          • Muscle Hypotonia
            • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        • Seizures
          • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
    • Otorhinolaryngologic Diseases
      • Ear Diseases
        • Hearing Disorders
          • Hearing Loss
            • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
    • Pathological Conditions, Signs and Symptoms
      • Signs and Symptoms
        • Mobility Limitation
          • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
    • Stomatognathic Diseases
      • Stomatognathic System Abnormalities
        • Mouth Abnormalities
          • Cleft Lip
            • Cleft Palate
              • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        • Maxillofacial Abnormalities
          • Jaw Abnormalities
            • Cleft Palate
              • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
  • Psychiatry and Psychology
    • Mental Disorders
      • Mental Disorders Diagnosed in Childhood
        • Developmental Disabilities
          • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        • Motor Skills Disorders
          • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        • Intellectual Disability
          • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        • Learning Disorders
          • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]