Legend:

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

'Musculoskeletal Abnormalities'  (Integration tree)

Pathogenesis

• Genetic disorders of glycan degradation

Disorders by systems

• Genetic disorders of glycan degradation (by systems, signs and symptoms)
  • Diseases
    • Musculoskeletal Diseases
      • Musculoskeletal Abnormalities
        • Craniofacial Abnormalities
          • Macrocephaly
            • 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]
            • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
            • Mucopolysaccharidosis VII (GDGDB) [GUSB]
          • Maxillofacial Abnormalities
            • Aspartylglucosaminuria (GDGDB) [AGA]
            • Fucosidosis (GDGDB) [FUCA1]
            • Alpha-mannosidosis (GDGDB) [MAN2B1]
            • Beta-mannosidosis (GDGDB) [MANBA]
            • Sialidosis (GDGDB) [NEU1]
            • Galactosialidosis (GDGDB) [CTSA]
            • 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]
            • 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]
            • GM1-gangliosidosis, type I (GDGDB) [GLB1]
            • GM1-gangliosidosis, type II (GDGDB) [GLB1]
            • GM1-gangliosidosis, type III (GDGDB) [GLB1]
            • Gaucher disease, type II (GDGDB) [GBA]
              • Gaucher disease, type II, perinatal lethal form [GBA]
            • Multiple sulfatase deficiency (GDGDB) [SUMF1]
          • Microcephaly
            • Aspartylglucosaminuria (GDGDB) [AGA]
        • Hip Dislocation, Congenital
          • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        • Limb Deformities, Congenital
          • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        • Alpha-mannosidosis (GDGDB) [MAN2B1]
        • Morquio syndrome A (GDGDB) [GALNS]
        • Morquio syndrome B (GDGDB) [GLB1]
        • GM1-gangliosidosis, type I (GDGDB) [GLB1]
        • GM1-gangliosidosis, type II (GDGDB) [GLB1]
        • GM1-gangliosidosis, type III (GDGDB) [GLB1]
        • Sandhoff disease (GDGDB) [HEXB]
        • Gaucher disease, type I (GDGDB) [GBA]
        • Gaucher disease, type III (GDGDB) [GBA]
        • Gaucher disease, type IIIC (GDGDB) [GBA]
        • Multiple sulfatase deficiency (GDGDB) [SUMF1]