GGDonto

GGDonto: Genetic Glyco-Diseases Ontology

Legend:

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

Genetic disorders of glycan degradation

'Musculoskeletal Diseases' (Integration tree)

Pathogenesis

Genetic disorders of glycan degradation

Disorders by systems

Genetic disorders of glycan degradation (by systems, signs and symptoms)
- Diseases
  - 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]

Copyright © 2014-2023 National Institute of Advanced Industrial Science and Technology (AIST)