Legend:

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

'Signs and Symptoms'  (Integration tree)

Pathogenesis

• Genetic disorders of glycan degradation

Disorders by systems

• Genetic disorders of glycan degradation (by systems, signs and symptoms)
  • Diseases
    • Pathological Conditions, Signs and Symptoms
      • Signs and Symptoms
        • Body Temperature Changes
          • Fever
            • Krabbe disease (GDGDB) [GALC]
              • Krabbe disease, infantile form [GALC]
        • Edema
          • Hydrops Fetalis
            • Sialidosis (GDGDB) [NEU1]
            • Galactosialidosis (GDGDB) [CTSA]
            • Mucopolysaccharidosis VII (GDGDB) [GUSB]
            • Gaucher disease, type II (GDGDB) [GBA]
              • Gaucher disease, type II, perinatal lethal form [GBA]
        • Mobility Limitation
          • Aspartylglucosaminuria (GDGDB) [AGA]
          • Fucosidosis (GDGDB) [FUCA1]
          • Alpha-mannosidosis (GDGDB) [MAN2B1]
          • Sialidosis (GDGDB) [NEU1]
          • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
          • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
          • Hurler syndrome (GDGDB) [IDUA]
          • Hurler-Scheie syndrome (GDGDB) [IDUA]
          • Scheie syndrome (GDGDB) [IDUA]
          • Mucopolysaccharidosis II (GDGDB) [IDS]
          • Sanfilippo syndrome A (GDGDB) [SGSH]
          • Sanfilippo syndrome B (GDGDB) [NAGLU]
          • Sanfilippo syndrome C (GDGDB) [HGSNAT]
          • Sanfilippo syndrome D (GDGDB) [GNS]
          • Morquio syndrome A (GDGDB) [GALNS]
          • Morquio syndrome B (GDGDB) [GLB1]
          • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
          • Mucopolysaccharidosis VII (GDGDB) [GUSB]
          • Tay-Sachs disease (GDGDB) [HEXA]
          • Sandhoff disease (GDGDB) [HEXB]
          • GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
          • Krabbe disease (GDGDB) [GALC]
          • Multiple sulfatase deficiency (GDGDB) [SUMF1]
          • Metachromatic leukodystrophy (GDGDB) [ARSA]
          • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
          • Niemann-Pick disease, type A (GDGDB) [SMPD1]
          • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
          • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
          • Farber Lipogranulomatosis (GDGDB) [ASAH1]
            • Farber Lipogranulomatosis, type 5 [ASAH1]
          • Pompe disease (GDGDB) [GAA]
        • Signs and Symptoms, Digestive
          • Constipation
            • Hurler syndrome (GDGDB) [IDUA]
            • Hurler-Scheie syndrome (GDGDB) [IDUA]
            • Scheie syndrome (GDGDB) [IDUA]
          • Diarrhea
            • Aspartylglucosaminuria (GDGDB) [AGA]
            • Hurler syndrome (GDGDB) [IDUA]
            • Hurler-Scheie syndrome (GDGDB) [IDUA]
            • Scheie syndrome (GDGDB) [IDUA]
            • Sanfilippo syndrome A (GDGDB) [SGSH]
            • Sanfilippo syndrome B (GDGDB) [NAGLU]
            • Sanfilippo syndrome C (GDGDB) [HGSNAT]
            • Sanfilippo syndrome D (GDGDB) [GNS]
            • Wolman disease (GDGDB) [LIPA]
          • Vomiting
            • Niemann-Pick disease, type A (GDGDB) [SMPD1]
            • Wolman disease (GDGDB) [LIPA]
        • Urological Manifestations
          • Lower Urinary Tract Symptoms
            • Urinary Incontinence
              • Metachromatic leukodystrophy (GDGDB) [ARSA]
              • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        • Neurologic Manifestations
          • Sleep Disorders
            • Sanfilippo syndrome A (GDGDB) [SGSH]
            • Sanfilippo syndrome B (GDGDB) [NAGLU]
            • Sanfilippo syndrome C (GDGDB) [HGSNAT]
            • Sanfilippo syndrome D (GDGDB) [GNS]
            • Niemann-Pick disease, type A (GDGDB) [SMPD1]