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
'Otorhinolaryngologic Diseases'
(
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
Otorhinolaryngologic Diseases
Ear Diseases
Otitis
SLC35C1-CDG
(GDGDB)
[SLC35C1]
DDOST-CDG
[DDOST]
Hearing Disorders
Hearing Loss
ALG12-CDG
(GDGDB)
[ALG12]
RFT1-CDG
[RFT1]
MGAT2-CDG
(GDGDB)
[MGAT2]
B3GALTL-CDG
[B3GALTL]
Lysyl hydroxylase 3 deficiency
(GDGDB)
[PLOD3]
ALG11-CDG
[ALG11]
Temtamy preaxial brachydactyly syndrome
[CHSY1]
Spondyloepiphyseal dysplasia with congenital joint dislocations
[CHST3]
Hyperphosphatasia with mental retardation syndrome 1
[PIGV]
Pharyngeal Diseases
Deglutition Disorders
DPM1-CDG
(GDGDB)
[DPM1]
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
DDOST-CDG
[DDOST]
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