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
'Vascular Diseases'
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
Cardiovascular Diseases
Vascular Diseases
Aneurysm
Aneurysm, Dissecting
Ehlers-Danlos syndrome, type VI
(GDGDB)
(GDGDB)
[PLOD1]
Aneurysm, Ruptured
Ehlers-Danlos syndrome, type VI
(GDGDB)
(GDGDB)
[PLOD1]
Lysyl hydroxylase 3 deficiency
(GDGDB)
[PLOD3]
Intracranial Aneurysm
Lysyl hydroxylase 3 deficiency
(GDGDB)
[PLOD3]
Ehlers-Danlos syndrome, type VI
(GDGDB)
(GDGDB)
[PLOD1]
Lysyl hydroxylase 3 deficiency
(GDGDB)
[PLOD3]
Embolism and Thrombosis
Thrombosis
Venous Thrombosis
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, adult stable disability stage
[PMM2]
ALG6-CDG
(GDGDB)
[ALG6]
PIGM-CDG
[PIGM]
Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION)
(GDGDB)
[PIGA]
PGM1-CDG
[PGM1]
Cerebrovascular Disorders
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, infantile multisystem stage
[PMM2]
PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage
[PMM2]
PMM2-CDG, adult stable disability stage
[PMM2]
DPM3-CDG
[DPM3]
PGM1-CDG
[PGM1]
Hemostatic Disorders
Ehlers-Danlos Syndrome
Ehlers-Danlos syndrome, type VI
(GDGDB)
(GDGDB)
[PLOD1]
Lysosomal Storage Diseases
(degradation)
Hereditary disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
Cardiovascular Diseases
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]
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