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
'Malformations of Cortical Development'
(
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
Nervous System Diseases
Nervous System Malformations
Malformations of Cortical Development
Lissencephaly
Cobblestone Lissencephaly
POMT1/POMT2-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMT1,POMT2]
POMGNT1-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMGNT1]
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Neuronal Migration Disorders
POMT1/POMT2-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMT1,POMT2]
POMGNT1-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMGNT1]
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
LARGE-CDG (cong. muscular dystrophy spectrum)
[LARGE]
Cobblestone Lissencephaly
POMT1/POMT2-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMT1,POMT2]
POMGNT1-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMGNT1]
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Macrocephaly
B4GALT1-CDG
(GDGDB)
[B4GALT1]
POMT1/POMT2-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMT1,POMT2]
POMGNT1-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMGNT1]
B3GALTL-CDG
[B3GALTL]
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]
ATP6VOA2-CDG
[ATP6V0A2]
POMT1/POMT2-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMT1,POMT2]
POMGNT1-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMGNT1]
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
LARGE-CDG (cong. muscular dystrophy spectrum)
[LARGE]
Copyright © 2014-2023 National Institute of Advanced Industrial Science and Technology (AIST)