GGDonto

GGDonto: Genetic Glyco-Diseases Ontology

Legend:

Concept Types
- classification term
- pathway-based classification term
- clinical findings
- multiple types disease
- single disease
- disease type

Genetic disorders of glycan degradation

Pathogenesis

Genetic disorders of glycan degradation
- Disorders of glycoprotein metabolism
  - Defects in glycoprotein degradation
    - Aspartylglucosaminuria (GDGDB) [AGA]
    - Fucosidosis (GDGDB) [FUCA1]
    - Mannosidase deficiency diseases
      - Alpha-mannosidosis (GDGDB) [MAN2B1]
        Alpha-mannosidosis, type I (early-onset) [MAN2B1]
        Alpha-mannosidosis, type II (later-onset) [MAN2B1]
      - Beta-mannosidosis (GDGDB) [MANBA]
    - Sialidosis (GDGDB) [NEU1]
      - Sialidosis type I [NEU1]
      - Sialidosis type II [NEU1]
        Sialidosis type II, congenital form [NEU1]
        Sialidosis type II, infantile form [NEU1]
        Sialidosis type II, juvenile form [NEU1]
  - Other disorders of glycoprotein metabolism
    - Schindler disease
      - Schindler disease, type I (GDGDB) [NAGA]
      - Schindler disease, type II (GDGDB) [NAGA]
    - Galactosialidosis (GDGDB) [CTSA]
  - Defects in post-translational modification of lysosomal enzymes
    - Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
    - Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
- Disorders of glycosaminoglycan metabolism
  - Mucopolysaccharidosis I
    - Hurler syndrome (GDGDB) [IDUA]
    - Hurler-Scheie syndrome (GDGDB) [IDUA]
    - Scheie syndrome (GDGDB) [IDUA]
  - Mucopolysaccharidosis II (GDGDB) [IDS]
  - Mucopolysaccharidosis III
    - Sanfilippo syndrome A (GDGDB) [SGSH]
    - Sanfilippo syndrome B (GDGDB) [NAGLU]
    - Sanfilippo syndrome C (GDGDB) [HGSNAT]
    - Sanfilippo syndrome D (GDGDB) [GNS]
  - Mucopolysaccharidosis IV
    - Morquio syndrome A (GDGDB) [GALNS]
    - Morquio syndrome B (GDGDB) [GLB1]
  - Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
    - Maroteaux-Lamy syndrome, severe form [ARSB]
    - Maroteaux-Lamy syndrome, mild form [ARSB]
    - Maroteaux-Lamy syndrome, intermediate form [ARSB]
  - Mucopolysaccharidosis VII (GDGDB) [GUSB]
- Disorders of sphingolipid metabolism and other lipid storage disorders
  - Sphingolipidosis
    - Gangliosidosis
      - GM1 gangliosidosis
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
      - GM2 gangliosidosis
        Tay-Sachs disease (GDGDB) [HEXA]
        Tay-Sachs disease, infantile form [HEXA]
        Tay-Sachs disease, late-onset forms [HEXA]
        
        Sandhoff disease (GDGDB) [HEXB]
        Sandhoff disease, infantile form [HEXB]
        Sandhoff disease, juvenile form [HEXB]
        Sandhoff disease, adult form [HEXB]
        
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
    - Other sphingolipidosis
      - Fabry disease (GDGDB) [GLA]
      - Gaucher disease
        Gaucher disease, type I (GDGDB) [GBA]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type II, neuronopathic form, classic type [GBA]
        Gaucher disease, type II, perinatal lethal form [GBA]
        
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, type IIIC (GDGDB) [GBA]
        Gaucher disease, atypical, due to saposin C deficiency (GDGDB) [PSAP]
      - Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        Krabbe disease, late-onset form [GALC]
      - Sulfatidosis
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        Metachromatic leukodystrophy
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, infantile form [ARSA]
        Metachromatic leukodystrophy, juvenile form [ARSA]
        Metachromatic leukodystrophy, adult form [ARSA]
        
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
      - Niemann-Pick disease
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type B (GDGDB) [SMPD1]
        Niemann-Pick disease, type C
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
      - Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Farber Lipogranulomatosis, type 1 [ASAH1]
        Farber Lipogranulomatosis, type 2 [ASAH1]
        Farber Lipogranulomatosis, type 3 [ASAH1]
        Farber Lipogranulomatosis, type 4 [ASAH1]
        Farber Lipogranulomatosis, type 5 [ASAH1]
    - Sphingolipidosis, unspecified
      - Combined saposin deficiency (GDGDB) [PSAP]
  - Other lipid storage disorders
    - Wolman disease (GDGDB) [LIPA]
- Other disorders of carbohydrate metabolism
  - Glycogen storage diseases
    - Pompe disease (GDGDB) [GAA]
      - Pompe disease, infantile-onset form [GAA]
      - Pompe disease, late-onset form [GAA]

Disorders by systems

Genetic disorders of glycan degradation (by systems, signs and symptoms)
- Diseases
  - Cardiovascular Diseases
    - Cardiovascular Abnormalities
      - Heart Defects, Congenital
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Pompe disease (GDGDB) [GAA]
        Pompe disease, infantile-onset form [GAA]
    - Heart Diseases
      - Cardiomegaly
        Schindler disease
        Galactosialidosis (GDGDB) [CTSA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Pompe disease (GDGDB) [GAA]
        Pompe disease, infantile-onset form [GAA]
      - Heart Failure
        Mucopolysaccharidosis I
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis III
        Mucopolysaccharidosis IV
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        Pompe disease (GDGDB) [GAA]
        Pompe disease, infantile-onset form [GAA]
      - Heart Valve Diseases
        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]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis III
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        Gaucher disease, type IIIC (GDGDB) [GBA]
      - Hurler syndrome (GDGDB) [IDUA]
      - Hurler-Scheie syndrome (GDGDB) [IDUA]
      - Scheie syndrome (GDGDB) [IDUA]
      - Mucopolysaccharidosis II (GDGDB) [IDS]
      - 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 IIIC (GDGDB) [GBA]
      - Pompe disease (GDGDB) [GAA]
      - Myocardial Ischemia
        Coronary Disease
        Coronary Artery Disease
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis III
        Mucopolysaccharidosis IV
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        Niemann-Pick disease, type B (GDGDB) [SMPD1]
        
        Myocardial Infarction
        Fabry disease (GDGDB) [GLA]
    - Vascular Diseases
      - Peripheral Vascular Diseases
        Mucopolysaccharidosis I
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis III
        Mucopolysaccharidosis IV
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
      - Cerebrovascular Disorders
        Stroke
        Fabry disease (GDGDB) [GLA]
      - Myocardial Ischemia
        Coronary Disease
        Coronary Artery Disease
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis III
        Mucopolysaccharidosis IV
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        Niemann-Pick disease, type B (GDGDB) [SMPD1]
        
        Myocardial Infarction
        Fabry disease (GDGDB) [GLA]
  - Digestive System Diseases
    - Gastrointestinal Diseases
      - Fabry disease (GDGDB) [GLA]
    - Liver Diseases
      - Hepatomegaly
        Fucosidosis (GDGDB) [FUCA1]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Sialidosis (GDGDB) [NEU1]
        Schindler disease
        Galactosialidosis (GDGDB) [CTSA]
        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]
        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 II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, type IIIC (GDGDB) [GBA]
        Gaucher disease, atypical, due to saposin C deficiency (GDGDB) [PSAP]
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type B (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Combined saposin deficiency (GDGDB) [PSAP]
        Wolman disease (GDGDB) [LIPA]
        Pompe disease (GDGDB) [GAA]
        Pompe disease, infantile-onset form [GAA]
      - Niemann-Pick disease, type C1 (GDGDB) [NPC1]
      - Niemann-Pick disease, type C2 (GDGDB) [NPC2]
  - Endocrine System Diseases
    - Adrenal Gland Diseases
      - Wolman disease (GDGDB) [LIPA]
  - Eye Diseases
    - Corneal Diseases
      - Corneal Opacity
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        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]
        Fabry disease (GDGDB) [GLA]
        Gaucher disease, type IIIC (GDGDB) [GBA]
    - Eye Abnormalities
      - Gaucher disease, type IIIC (GDGDB) [GBA]
    - Lens Diseases
      - Cataract
        Alpha-mannosidosis (GDGDB) [MAN2B1]
    - Ocular Hypertension
      - Glaucoma
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
    - Retinal Diseases
      - Retinal Degeneration
        Sialidosis (GDGDB) [NEU1]
        Sialidosis type I [NEU1]
        Sialidosis type II [NEU1]
        Sialidosis type II, infantile form [NEU1]
        Sialidosis type II, juvenile form [NEU1]
        
        Galactosialidosis (GDGDB) [CTSA]
        Hurler syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Krabbe disease (GDGDB) [GALC]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Farber Lipogranulomatosis, type 1 [ASAH1]
        Farber Lipogranulomatosis, type 5 [ASAH1]
    - Optic Nerve Diseases
      - Optic Atrophy
        Optic Atrophies, Hereditary
        Combined saposin deficiency (GDGDB) [PSAP]
    - Ocular Motility Disorders
      - Gaucher disease, type II (GDGDB) [GBA]
      - Gaucher disease, type III (GDGDB) [GBA]
      - Gaucher disease, type IIIC (GDGDB) [GBA]
      - Niemann-Pick disease, type C1 (GDGDB) [NPC1]
      - Niemann-Pick disease, type C2 (GDGDB) [NPC2]
  - Female Urogenital Diseases and Pregnancy Complications
    - Female Urogenital Diseases
      - Urologic Diseases
        Kidney Diseases
        Galactosialidosis (GDGDB) [CTSA]
        Fabry disease (GDGDB) [GLA]
        Renal Insufficiency
        Galactosialidosis (GDGDB) [CTSA]
        Fabry disease (GDGDB) [GLA]
  - Hemic and Lymphatic Diseases
    - Hematologic Diseases
      - Anemia
        Gaucher disease, type I (GDGDB) [GBA]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Wolman disease (GDGDB) [LIPA]
      - Blood Platelet Disorders
        Thrombocytopenia
        Gaucher disease, type I (GDGDB) [GBA]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Niemann-Pick disease, type B (GDGDB) [SMPD1]
      - Hemorrhagic Disorders
        Gaucher disease, type I (GDGDB) [GBA]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
    - Lymphatic Diseases
      - Histiocytosis
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type B (GDGDB) [SMPD1]
        Niemann-Pick disease, type C
      - Splenic Diseases
        Fucosidosis (GDGDB) [FUCA1]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Sialidosis (GDGDB) [NEU1]
        Schindler disease
        Galactosialidosis (GDGDB) [CTSA]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        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]
        Tay-Sachs disease (GDGDB) [HEXA]
        Tay-Sachs disease, infantile form [HEXA]
        Tay-Sachs disease, late-onset forms [HEXA]
        
        Sandhoff disease (GDGDB) [HEXB]
        Gaucher disease, type I (GDGDB) [GBA]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, type IIIC (GDGDB) [GBA]
        Gaucher disease, atypical, due to saposin C deficiency (GDGDB) [PSAP]
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type B (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Combined saposin deficiency (GDGDB) [PSAP]
        Wolman disease (GDGDB) [LIPA]
  - Male Urogenital Diseases
    - Urologic Diseases
      - Kidney Diseases
        Galactosialidosis (GDGDB) [CTSA]
        Fabry disease (GDGDB) [GLA]
        Renal Insufficiency
        Galactosialidosis (GDGDB) [CTSA]
        Fabry disease (GDGDB) [GLA]
  - Musculoskeletal Diseases
    - Bone Diseases
      - Bone Diseases, Developmental
        Dwarfism
        Sialidosis (GDGDB) [NEU1]
        Galactosialidosis (GDGDB) [CTSA]
        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]
        Niemann-Pick disease, type B (GDGDB) [SMPD1]
        
        Dysostoses
        Aspartylglucosaminuria (GDGDB) [AGA]
        Fucosidosis (GDGDB) [FUCA1]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Sialidosis (GDGDB) [NEU1]
        Schindler disease
        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]
        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]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Sandhoff disease (GDGDB) [HEXB]
      - Bone Diseases, Metabolic
        Mucolipidoses
        Sialidosis (GDGDB) [NEU1]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        
        Osteoporosis
        Aspartylglucosaminuria (GDGDB) [AGA]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Gaucher disease, type I (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, type IIIC (GDGDB) [GBA]
      - Spinal Diseases
        Spinal Curvatures
        Kyphosis
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        
        Spinal Stenosis
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        
        Aspartylglucosaminuria (GDGDB) [AGA]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Galactosialidosis (GDGDB) [CTSA]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
    - Joint Diseases
      - Arthritis
        Gaucher disease, type I (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, type IIIC (GDGDB) [GBA]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
      - Contracture
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
      - Aspartylglucosaminuria (GDGDB) [AGA]
      - Alpha-mannosidosis (GDGDB) [MAN2B1]
      - Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
      - 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]
    - 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]
    - Muscular Diseases
      - Muscle Rigidity
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        Krabbe disease, late-onset form [GALC]
        
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
      - Muscle Spasticity
        Fucosidosis (GDGDB) [FUCA1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
      - Muscle Weakness
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        Krabbe disease, late-onset form [GALC]
        
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Pompe disease (GDGDB) [GAA]
  - Neoplasms
    - Neoplasms by Histologic Type
      - Neoplasms, Vascular Tissue
        Angiokeratoma
        Fucosidosis (GDGDB) [FUCA1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Sialidosis (GDGDB) [NEU1]
        Schindler disease, type II (GDGDB) [NAGA]
        Galactosialidosis (GDGDB) [CTSA]
        Fabry disease (GDGDB) [GLA]
  - Nervous System Diseases
    - Central Nervous System Diseases
      - Brain Diseases
        Brain Diseases, Metabolic
        Brain Diseases, Metabolic, Inborn
        Aspartylglucosaminuria (GDGDB) [AGA]
        Fucosidosis (GDGDB) [FUCA1]
        Sialidosis (GDGDB) [NEU1]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Fabry disease (GDGDB) [GLA]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, atypical, due to saposin C deficiency (GDGDB) [PSAP]
        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]
        
        Dementia
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        
        Intracranial Hypertension
        Hydrocephalus
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        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]
        
        Cerebrovascular Disorders
        Stroke
        Fabry disease (GDGDB) [GLA]
      - Movement Disorders
        Dyskinesias
        Aspartylglucosaminuria (GDGDB) [AGA]
        Fucosidosis (GDGDB) [FUCA1]
        Sialidosis (GDGDB) [NEU1]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        Gaucher disease, type II (GDGDB) [GBA]
        Krabbe disease (GDGDB) [GALC]
        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]
        Combined saposin deficiency (GDGDB) [PSAP]
      - Spinal Cord Diseases
        Spinal Cord Compression
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
      - Ocular Motility Disorders
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, type IIIC (GDGDB) [GBA]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Combined saposin deficiency (GDGDB) [PSAP]
    - Demyelinating Diseases
      - Hereditary Central Nervous System Demyelinating Diseases
        Fucosidosis (GDGDB) [FUCA1]
        Hurler-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]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Tay-Sachs disease, infantile form [HEXA]
        
        Sandhoff disease (GDGDB) [HEXB]
        Sandhoff disease, infantile form [HEXB]
        
        Krabbe disease (GDGDB) [GALC]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Combined saposin deficiency (GDGDB) [PSAP]
    - Nervous System Malformations
      - Malformations of Cortical Development
        Combined saposin deficiency (GDGDB) [PSAP]
        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]
        
        Microcephaly
        Aspartylglucosaminuria (GDGDB) [AGA]
    - Neurodegenerative Diseases
      - Heredodegenerative Disorders, Nervous System
        Schindler disease, type I (GDGDB) [NAGA]
        Schindler disease, type II (GDGDB) [NAGA]
        Combined saposin deficiency (GDGDB) [PSAP]
    - Neuromuscular Diseases
      - Peripheral Nervous System Diseases
        Mononeuropathies
        Median Neuropathy
        Carpal Tunnel Syndrome
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        
        Nerve Compression Syndromes
        Carpal Tunnel Syndrome
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        
        Beta-mannosidosis (GDGDB) [MANBA]
        Tay-Sachs disease (GDGDB) [HEXA]
        Fabry disease (GDGDB) [GLA]
        Krabbe disease (GDGDB) [GALC]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
    - Cranial Nerve Diseases
    - Neurologic Manifestations
      - Dyskinesias
        Ataxia
        Aspartylglucosaminuria (GDGDB) [AGA]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Sialidosis (GDGDB) [NEU1]
        Galactosialidosis (GDGDB) [CTSA]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        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]
        
        Dystonia
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        
        Myoclonus
        Sialidosis (GDGDB) [NEU1]
        Galactosialidosis (GDGDB) [CTSA]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Farber Lipogranulomatosis, type 5 [ASAH1]
        
        Combined saposin deficiency (GDGDB) [PSAP]
        
        Tremor
        Sialidosis (GDGDB) [NEU1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        
        Hyperkinesis
        Combined saposin deficiency (GDGDB) [PSAP]
      - Gait Disorders, Neurologic
        Sialidosis (GDGDB) [NEU1]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
      - Neurobehavioral Manifestations
        Communication Disorders
        Language Disorders
        Speech Disorders
        Aspartylglucosaminuria (GDGDB) [AGA]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Farber Lipogranulomatosis, type 5 [ASAH1]
        
        Learning Disorders
        Aspartylglucosaminuria (GDGDB) [AGA]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Schindler disease, type I (GDGDB) [NAGA]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        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]
        
        Intellectual Disability
        Aspartylglucosaminuria (GDGDB) [AGA]
        Fucosidosis (GDGDB) [FUCA1]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Sialidosis (GDGDB) [NEU1]
        Sialidosis type II [NEU1]
        
        Schindler disease, type I (GDGDB) [NAGA]
        Schindler disease, type II (GDGDB) [NAGA]
        Galactosialidosis (GDGDB) [CTSA]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        Fabry disease (GDGDB) [GLA]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, atypical, due to saposin C deficiency (GDGDB) [PSAP]
        Krabbe disease (GDGDB) [GALC]
        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]
        Mental Retardation, X-Linked
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        
        Perceptual Disorders
        Hallucinations
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, adult form [ARSA]
      - Neuromuscular Manifestations
        Fasciculation
        Gaucher disease, type II (GDGDB) [GBA]
        Combined saposin deficiency (GDGDB) [PSAP]
        
        Muscle Hypertonia
        Muscle Rigidity
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        Krabbe disease, late-onset form [GALC]
        
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Muscle Spasticity
        Fucosidosis (GDGDB) [FUCA1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        
        Muscle Hypotonia
        Beta-mannosidosis (GDGDB) [MANBA]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Combined saposin deficiency (GDGDB) [PSAP]
        Wolman disease (GDGDB) [LIPA]
        Pompe disease (GDGDB) [GAA]
        
        Muscle Weakness
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        Krabbe disease, late-onset form [GALC]
        
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Pompe disease (GDGDB) [GAA]
        
        Muscular Atrophy
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
      - Pain
        Musculoskeletal Pain
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Fabry disease (GDGDB) [GLA]
        Gaucher disease, type I (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, type IIIC (GDGDB) [GBA]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
      - Paralysis
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Farber Lipogranulomatosis, type 5 [ASAH1]
        
        Facial Paralysis
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
      - Paresis
        Paraparesis
        Paraparesis, Spastic
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
      - Seizures
        Aspartylglucosaminuria (GDGDB) [AGA]
        Fucosidosis (GDGDB) [FUCA1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Sialidosis (GDGDB) [NEU1]
        Schindler disease, type I (GDGDB) [NAGA]
        Galactosialidosis (GDGDB) [CTSA]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        Krabbe disease, late-onset form [GALC]
        
        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]
        
        Combined saposin deficiency (GDGDB) [PSAP]
      - Sensation Disorders
        Hearing Disorders
        Hearing Loss
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Sialidosis (GDGDB) [NEU1]
        Schindler disease, type II (GDGDB) [NAGA]
        Galactosialidosis (GDGDB) [CTSA]
        Mucolipidosis II (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]
        Fabry disease (GDGDB) [GLA]
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        Krabbe disease, late-onset form [GALC]
        
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Tinnitus
        Fabry disease (GDGDB) [GLA]
        
        Somatosensory Disorders
        Hypesthesia
        Beta-mannosidosis (GDGDB) [MANBA]
        Schindler disease, type II (GDGDB) [NAGA]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Paresthesia
        Fabry disease (GDGDB) [GLA]
        
        Vision Disorders
        Blindness
        Schindler disease, type I (GDGDB) [NAGA]
        Galactosialidosis (GDGDB) [CTSA]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        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]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Krabbe disease (GDGDB) [GALC]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Vision, Low
        Sialidosis (GDGDB) [NEU1]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Gaucher disease, type IIIC (GDGDB) [GBA]
    - 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]
  - Otorhinolaryngologic Diseases
    - Ear Diseases
      - Labyrinth Diseases
        Schindler disease, type II (GDGDB) [NAGA]
      - Otitis
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        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]
      - Hearing Disorders
        Hearing Loss
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Sialidosis (GDGDB) [NEU1]
        Schindler disease, type II (GDGDB) [NAGA]
        Galactosialidosis (GDGDB) [CTSA]
        Mucolipidosis II (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]
        Fabry disease (GDGDB) [GLA]
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        
        Tinnitus
    - Pharyngeal Diseases
      - Deglutition Disorders
        Beta-mannosidosis (GDGDB) [MANBA]
        Gaucher disease, type II (GDGDB) [GBA]
        Krabbe disease (GDGDB) [GALC]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
  - Pathological Conditions, Signs and Symptoms
    - Pathologic Processes
      - Growth Disorders
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type B (GDGDB) [SMPD1]
        Wolman disease (GDGDB) [LIPA]
        Pompe disease (GDGDB) [GAA]
        Pompe disease, infantile-onset form [GAA]
      - Hyperbilirubinemia
        Jaundice
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Wolman disease (GDGDB) [LIPA]
    - Pathological Conditions, Anatomical
      - Hernia
        Hernia, Abdominal
        Hernia, Inguinal
        Galactosialidosis (GDGDB) [CTSA]
        Mucolipidosis II (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]
        
        Hernia, Ventral
        Hernia, Umbilical
        Mucolipidosis II (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]
    - 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]
  - Respiratory Tract Diseases
    - Lung Diseases
      - Hurler syndrome (GDGDB) [IDUA]
      - Hurler-Scheie syndrome (GDGDB) [IDUA]
      - Scheie syndrome (GDGDB) [IDUA]
      - Gaucher disease, type I (GDGDB) [GBA]
      - Gaucher disease, type II (GDGDB) [GBA]
      - Gaucher disease, type III (GDGDB) [GBA]
      - Niemann-Pick disease, type A (GDGDB) [SMPD1]
      - Niemann-Pick disease, type B (GDGDB) [SMPD1]
      - Niemann-Pick disease, type C1 (GDGDB) [NPC1]
      - Niemann-Pick disease, type C2 (GDGDB) [NPC2]
      - Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Farber Lipogranulomatosis, type 1 [ASAH1]
        Farber Lipogranulomatosis, type 4 [ASAH1]
      - Pompe disease (GDGDB) [GAA]
    - Respiration Disorders
      - Apnea
        Sleep Apnea Syndromes
        Sleep Apnea, Obstructive
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
      - Dyspnea
        Gaucher disease, type II (GDGDB) [GBA]
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
        Pompe disease (GDGDB) [GAA]
      - Hoarseness
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Farber Lipogranulomatosis (GDGDB) [ASAH1]
      - Respiratory Insufficiency
        Airway Obstruction
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Morquio syndrome A (GDGDB) [GALNS]
        Morquio syndrome B (GDGDB) [GLB1]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        
        Combined saposin deficiency (GDGDB) [PSAP]
        Pompe disease (GDGDB) [GAA]
    - Respiratory Tract Infections
      - Aspartylglucosaminuria (GDGDB) [AGA]
      - Fucosidosis (GDGDB) [FUCA1]
      - Alpha-mannosidosis (GDGDB) [MAN2B1]
      - Beta-mannosidosis (GDGDB) [MANBA]
      - 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]
      - Niemann-Pick disease, type A (GDGDB) [SMPD1]
      - Niemann-Pick disease, type B (GDGDB) [SMPD1]
      - Niemann-Pick disease, type C1 (GDGDB) [NPC1]
      - Niemann-Pick disease, type C2 (GDGDB) [NPC2]
      - Combined saposin deficiency (GDGDB) [PSAP]
      - Pompe disease (GDGDB) [GAA]
  - Skin and Connective Tissue Diseases
    - Connective Tissue Diseases
      - Cutis Laxa
        Aspartylglucosaminuria (GDGDB) [AGA]
      - Mucinoses
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis III
        Mucopolysaccharidosis IV
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
    - Skin Diseases
      - Skin Abnormalities
        Ichthyosis
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type II, perinatal lethal form [GBA]
        
        Multiple sulfatase deficiency (GDGDB) [SUMF1]
        
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type II, perinatal lethal form [GBA]
      - Sweat Gland Diseases
        Hypohidrosis
        Fabry disease (GDGDB) [GLA]
      - Fabry disease (GDGDB) [GLA]
  - Stomatognathic Diseases
    - Mouth Diseases
      - Periodontal Diseases
        Gingival Diseases
        Gingival Overgrowth
        Gingival Hyperplasia
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Sialidosis (GDGDB) [NEU1]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
      - Tongue Diseases
        Macroglossia
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Scheie syndrome (GDGDB) [IDUA]
        Mucopolysaccharidosis II (GDGDB) [IDS]
        Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        Pompe disease (GDGDB) [GAA]
        Pompe disease, infantile-onset form [GAA]
    - Stomatognathic System Abnormalities
      - 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]
- Psychiatry and Psychology
  - Behavior and Behavior Mechanisms
    - Behavior
      - Behavioral Symptoms
        Child Reactive Disorders
        Beta-mannosidosis (GDGDB) [MANBA]
        
        Delusions
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, adult form [ARSA]
        
        Depression
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        
        Aspartylglucosaminuria (GDGDB) [AGA]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
  - Mental Disorders
    - Mental Disorders Diagnosed in Childhood
      - Anxiety, Separation
        Alpha-mannosidosis (GDGDB) [MAN2B1]
      - Child Behavior Disorders
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Schindler disease
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
      - Developmental Disabilities
        Aspartylglucosaminuria (GDGDB) [AGA]
        Schindler disease, type I (GDGDB) [NAGA]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-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 VII (GDGDB) [GUSB]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Gaucher disease, type II (GDGDB) [GBA]
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [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]
        Wolman disease (GDGDB) [LIPA]
      - Feeding and Eating Disorders of Childhood
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, infantile form [ARSA]
        
        Niemann-Pick disease, type A (GDGDB) [SMPD1]
        Niemann-Pick disease, type C1 (GDGDB) [NPC1]
        Niemann-Pick disease, type C2 (GDGDB) [NPC2]
        Combined saposin deficiency (GDGDB) [PSAP]
        Pompe disease (GDGDB) [GAA]
        Pompe disease, infantile-onset form [GAA]
      - Motor Skills Disorders
        Aspartylglucosaminuria (GDGDB) [AGA]
        Fucosidosis (GDGDB) [FUCA1]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
        Gaucher disease, type II (GDGDB) [GBA]
        Krabbe disease (GDGDB) [GALC]
        Krabbe disease, infantile form [GALC]
        
        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]
      - Tay-Sachs disease (GDGDB) [HEXA]
      - Sandhoff disease (GDGDB) [HEXB]
      - Communication Disorders
        Metachromatic leukodystrophy (GDGDB) [ARSA]
        Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
      - Intellectual Disability
        Aspartylglucosaminuria (GDGDB) [AGA]
        Fucosidosis (GDGDB) [FUCA1]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Beta-mannosidosis (GDGDB) [MANBA]
        Sialidosis (GDGDB) [NEU1]
        Sialidosis type II [NEU1]
        
        Schindler disease, type I (GDGDB) [NAGA]
        Schindler disease, type II (GDGDB) [NAGA]
        Galactosialidosis (GDGDB) [CTSA]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        Mucopolysaccharidosis VII (GDGDB) [GUSB]
        GM1-gangliosidosis, type I (GDGDB) [GLB1]
        GM1-gangliosidosis, type II (GDGDB) [GLB1]
        GM1-gangliosidosis, type III (GDGDB) [GLB1]
        Tay-Sachs disease (GDGDB) [HEXA]
        Sandhoff disease (GDGDB) [HEXB]
        Fabry disease (GDGDB) [GLA]
        Gaucher disease, type II (GDGDB) [GBA]
        Gaucher disease, type III (GDGDB) [GBA]
        Gaucher disease, atypical, due to saposin C deficiency (GDGDB) [PSAP]
        Krabbe disease (GDGDB) [GALC]
        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]
      - Learning Disorders
        Aspartylglucosaminuria (GDGDB) [AGA]
        Alpha-mannosidosis (GDGDB) [MAN2B1]
        Schindler disease, type I (GDGDB) [NAGA]
        Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
        Hurler syndrome (GDGDB) [IDUA]
        Hurler-Scheie syndrome (GDGDB) [IDUA]
        Sanfilippo syndrome A (GDGDB) [SGSH]
        Sanfilippo syndrome B (GDGDB) [NAGLU]
        Sanfilippo syndrome C (GDGDB) [HGSNAT]
        Sanfilippo syndrome D (GDGDB) [GNS]
        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]

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