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
Genetic disorders of glycan synthesis
'Cleft Lip'
(
Integration tree
)
Pathogenesis (traditional nomenclature)
Genetic disorders of glycan synthesis (traditional nomenclature)
Pathogenesis (new nomenclature)
Genetic disorders of glycan synthesis (new nomenclature)
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Stomatognathic Diseases
Stomatognathic System Abnormalities
Mouth Abnormalities
Cleft Lip
B3GALTL-CDG
[B3GALTL]
Cleft Palate
Diastrophic dysplasia
[SLC26A2]
Neonatal osseous dysplasia I
[SLC26A2]
Autosomal recessive multiple epiphyseal dysplasia
[SLC26A2]
SLC35D1-CDG
[SLC35D1]
B3GALTL-CDG
[B3GALTL]
PGM1-CDG
[PGM1]
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
[B3GAT3]
Temtamy preaxial brachydactyly syndrome
[CHSY1]
Ehlers-Danlos syndrome, musculocontractural type
[CHST14]
Hyperphosphatasia with mental retardation syndrome 1
[PIGV]
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