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
'Mental Disorders'
(
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)
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Developmental Disabilities
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, infantile multisystem stage
[PMM2]
PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage
[PMM2]
ALG6-CDG
(GDGDB)
[ALG6]
ALG3-CDG
(GDGDB)
[ALG3]
DPM1-CDG
(GDGDB)
[DPM1]
MPDU1-CDG
(GDGDB)
[MPDU1]
ALG12-CDG
(GDGDB)
[ALG12]
ALG2-CDG
(GDGDB)
[ALG2]
DPAGT1-CDG
(GDGDB)
[DPAGT1]
ALG1-CDG
(GDGDB)
[ALG1]
ALG9-CDG
(GDGDB)
[ALG9]
DOLK-CDG
[TMEM15]
RFT1-CDG
[RFT1]
MGAT2-CDG
(GDGDB)
[MGAT2]
SLC35C1-CDG
(GDGDB)
[SLC35C1]
B4GALT1-CDG
(GDGDB)
[B4GALT1]
COG1-CDG
[COG1]
COG4-CDG
[COG4]
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]
B4GALT7-CDG
[B4GALT7]
B3GALTL-CDG
[B3GALTL]
Lysyl hydroxylase 3 deficiency
(GDGDB)
[PLOD3]
ST3GAL5-CDG
[SIAT9]
ALG11-CDG
[ALG11]
SRD5A3-CDG
[SRD5A3]
DDOST-CDG
[DDOST]
COG6-CDG
[COG6]
Hyperphosphatasia with mental retardation syndrome 1
[PIGV]
Multiple congenital anomalies-hypotonia-seizures syndrome 1
[PIGN]
Feeding and Eating Disorders of Childhood
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, infantile multisystem stage
[PMM2]
MPDU1-CDG
(GDGDB)
[MPDU1]
ALG12-CDG
(GDGDB)
[ALG12]
ALG8-CDG
(GDGDB)
[ALG8]
DPAGT1-CDG
(GDGDB)
[DPAGT1]
RFT1-CDG
[RFT1]
MGAT2-CDG
(GDGDB)
[MGAT2]
GCS1-CDG
(GDGDB)
[GCS1]
COG7-CDG
(GDGDB)
[COG7]
COG1-CDG
[COG1]
COG4-CDG
[COG4]
ATP6VOA2-CDG
[ATP6V0A2]
Muscular dystrophy, congenital, type 1C
(GDGDB)
[FKRP]
B3GALTL-CDG
[B3GALTL]
ST3GAL5-CDG
[SIAT9]
ALG11-CDG
[ALG11]
ALG13-CDG
[ALG13]
Motor Skills Disorders
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage
[PMM2]
ALG6-CDG
(GDGDB)
[ALG6]
ALG12-CDG
(GDGDB)
[ALG12]
B4GALT1-CDG
(GDGDB)
[B4GALT1]
COG1-CDG
[COG1]
COG5-CDG
[COG5]
COG4-CDG
[COG4]
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, limb-girdle, type 2M
(GDGDB)
[FKTN]
Muscular dystrophy, congenital, type 1C
(GDGDB)
[FKRP]
Muscular dystrophy, limb-girdle, type 2I
(GDGDB)
[FKRP]
LARGE-CDG (cong. muscular dystrophy spectrum)
[LARGE]
Duchenne muscular dystrophy
[DMD]
Ehlers-Danlos syndrome, type VI
(GDGDB)
(GDGDB)
[PLOD1]
ST3GAL5-CDG
[SIAT9]
SRD5A3-CDG
[SRD5A3]
DDOST-CDG
[DDOST]
Ehlers-Danlos syndrome, musculocontractural type
[CHST14]
Hyperphosphatasia with mental retardation syndrome 1
[PIGV]
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]
Learning Disorders
Temtamy preaxial brachydactyly syndrome
[CHSY1]
Hyperphosphatasia with mental retardation syndrome 1
[PIGV]
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