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
'Lymphatic 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
Hemic and Lymphatic Diseases
Lymphatic Diseases
Splenic Diseases
ALG1-CDG
(GDGDB)
[ALG1]
ALG9-CDG
(GDGDB)
[ALG9]
COG7-CDG
(GDGDB)
[COG7]
COG1-CDG
[COG1]
COG4-CDG
[COG4]
SEC23B-CDG
(GDGDB)
[SEC23B]
PIGM-CDG
[PIGM]
TMEM165-CDG
[TMEM165]
Lysosomal Storage Diseases
(degradation)
Hereditary disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
Hemic and Lymphatic Diseases
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]
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