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
'Microcephaly'
(
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
Musculoskeletal Diseases
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Microcephaly
ALG3-CDG
(GDGDB)
[ALG3]
DPM1-CDG
(GDGDB)
[DPM1]
ALG12-CDG
(GDGDB)
[ALG12]
DPAGT1-CDG
(GDGDB)
[DPAGT1]
ALG1-CDG
(GDGDB)
[ALG1]
ALG9-CDG
(GDGDB)
[ALG9]
DOLK-CDG
[TMEM15]
RFT1-CDG
[RFT1]
SLC35C1-CDG
(GDGDB)
[SLC35C1]
COG1-CDG
[COG1]
COG8-CDG
[COG8]
COG4-CDG
[COG4]
ATP6VOA2-CDG
[ATP6V0A2]
POMT1/POMT2-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMT1,POMT2]
POMGNT1-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMGNT1]
Muscular dystrophy, congenital, type 1C
(GDGDB)
[FKRP]
ALG11-CDG
[ALG11]
ALG13-CDG
[ALG13]
TMEM165-CDG
[TMEM165]
COG6-CDG
[COG6]
Nervous System Diseases
Nervous System Malformations
Malformations of Cortical Development
Microcephaly
ALG3-CDG
(GDGDB)
[ALG3]
DPM1-CDG
(GDGDB)
[DPM1]
ALG12-CDG
(GDGDB)
[ALG12]
DPAGT1-CDG
(GDGDB)
[DPAGT1]
ALG1-CDG
(GDGDB)
[ALG1]
ALG9-CDG
(GDGDB)
[ALG9]
DOLK-CDG
[TMEM15]
RFT1-CDG
[RFT1]
SLC35C1-CDG
(GDGDB)
[SLC35C1]
COG1-CDG
[COG1]
COG8-CDG
[COG8]
COG4-CDG
[COG4]
ATP6VOA2-CDG
[ATP6V0A2]
POMT1/POMT2-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMT1,POMT2]
POMGNT1-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMGNT1]
Muscular dystrophy, congenital, type 1C
(GDGDB)
[FKRP]
ALG11-CDG
[ALG11]
ALG13-CDG
[ALG13]
TMEM165-CDG
[TMEM165]
COG6-CDG
[COG6]
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