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
'Intellectual Disability'
(
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
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, infantile multisystem stage
[PMM2]
PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage
[PMM2]
PMM2-CDG, adult stable disability stage
[PMM2]
ALG6-CDG
(GDGDB)
[ALG6]
ALG3-CDG
(GDGDB)
[ALG3]
ALG12-CDG
(GDGDB)
[ALG12]
ALG2-CDG
(GDGDB)
[ALG2]
DPAGT1-CDG
(GDGDB)
[DPAGT1]
SLC35C1-CDG
(GDGDB)
[SLC35C1]
COG1-CDG
[COG1]
COG8-CDG
[COG8]
COG5-CDG
[COG5]
TUSC3-CDG
[TUSC3]
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]
Muscular dystrophy, congenital, type 1C
(GDGDB)
[FKRP]
LARGE-CDG (cong. muscular dystrophy spectrum)
[LARGE]
B4GALT7-CDG
[B4GALT7]
B3GALTL-CDG
[B3GALTL]
ST3GAL5-CDG
[SIAT9]
ALG11-CDG
[ALG11]
SRD5A3-CDG
[SRD5A3]
Mental retardation, autosomal recessive 15
[MAN1B1]
Mental retardation, autosomal recessive 12
[ST3GAL3]
Temtamy preaxial brachydactyly syndrome
[CHSY1]
Hyperphosphatasia with mental retardation syndrome 1
[PIGV]
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Intellectual Disability
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, infantile multisystem stage
[PMM2]
PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage
[PMM2]
PMM2-CDG, adult stable disability stage
[PMM2]
ALG6-CDG
(GDGDB)
[ALG6]
ALG3-CDG
(GDGDB)
[ALG3]
ALG12-CDG
(GDGDB)
[ALG12]
ALG2-CDG
(GDGDB)
[ALG2]
DPAGT1-CDG
(GDGDB)
[DPAGT1]
SLC35C1-CDG
(GDGDB)
[SLC35C1]
COG1-CDG
[COG1]
COG8-CDG
[COG8]
COG5-CDG
[COG5]
TUSC3-CDG
[TUSC3]
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]
Muscular dystrophy, congenital, type 1C
(GDGDB)
[FKRP]
LARGE-CDG (cong. muscular dystrophy spectrum)
[LARGE]
B4GALT7-CDG
[B4GALT7]
B3GALTL-CDG
[B3GALTL]
ST3GAL5-CDG
[SIAT9]
ALG11-CDG
[ALG11]
SRD5A3-CDG
[SRD5A3]
Mental retardation, autosomal recessive 15
[MAN1B1]
Mental retardation, autosomal recessive 12
[ST3GAL3]
Temtamy preaxial brachydactyly syndrome
[CHSY1]
Hyperphosphatasia with mental retardation syndrome 1
[PIGV]
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