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
'Tooth Abnormalities'
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
Stomatognathic Diseases
Stomatognathic System Abnormalities
Tooth Abnormalities
Dental Enamel Hypoplasia
GALNT3-CDG
[GALNT3]
B4GALT7-CDG
[B4GALT7]
Ehlers-Danlos syndrome, type VI
(GDGDB)
(GDGDB)
[PLOD1]
Mental retardation, autosomal recessive 12
[ST3GAL3]
Temtamy preaxial brachydactyly syndrome
[CHSY1]
Spondyloepiphyseal dysplasia with congenital joint dislocations
[CHST3]
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