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
'Intracranial Hypertension'
Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
(synthesis)
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Intracranial Hypertension
Pseudotumor Cerebri
ALG6-CDG
(GDGDB)
[ALG6]
Hydrocephalus
POMT1/POMT2-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMT1,POMT2]
POMGNT1-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMGNT1]
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
ALG13-CDG
[ALG13]
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
[B3GAT3]
Lysosomal Storage Diseases
(degradation)
Hereditary disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
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]
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