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
'Osteogenesis Imperfecta'
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
Musculoskeletal Diseases
Bone Diseases
Bone Diseases, Developmental
Osteochondrodysplasias
Osteogenesis Imperfecta
Bruck syndrome 2
(GDGDB)
[PLOD2]
TMEM165-CDG
[TMEM165]
Spondyloepiphyseal dysplasia with congenital joint dislocations
[CHST3]
Skin and Connective Tissue Diseases
Connective Tissue Diseases
Collagen Diseases
Osteogenesis Imperfecta
Bruck syndrome 2
(GDGDB)
[PLOD2]
TMEM165-CDG
[TMEM165]
Spondyloepiphyseal dysplasia with congenital joint dislocations
[CHST3]
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