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
'Hypertelorism'
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
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Craniofacial Dysostosis
Hypertelorism
DPM1-CDG
(GDGDB)
[DPM1]
ALG1-CDG
(GDGDB)
[ALG1]
ALG13-CDG
[ALG13]
Mental retardation, autosomal recessive 15
[MAN1B1]
Spondyloepiphyseal dysplasia with congenital joint dislocations
[CHST3]
Ehlers-Danlos syndrome, musculocontractural type
[CHST14]
Hyperphosphatasia with mental retardation syndrome 1
[PIGV]
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