GGDonto

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

'Neurologic Manifestations' (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
      - Gait Disorders, Neurologic
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
      - Neurobehavioral Manifestations
        Lethargy
        COG8-CDG [COG8]
        
        Psychomotor Disorders
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        ALG6-CDG (GDGDB) [ALG6]
        ALG3-CDG (GDGDB) [ALG3]
        MPDU1-CDG (GDGDB) [MPDU1]
        ALG12-CDG (GDGDB) [ALG12]
        ALG8-CDG (GDGDB) [ALG8]
        ALG1-CDG (GDGDB) [ALG1]
        MGAT2-CDG (GDGDB) [MGAT2]
        SLC35C1-CDG (GDGDB) [SLC35C1]
        COG7-CDG (GDGDB) [COG7]
        COG1-CDG [COG1]
        COG8-CDG [COG8]
        COG4-CDG [COG4]
        ST3GAL5-CDG [SIAT9]
        ALG11-CDG [ALG11]
        DDOST-CDG [DDOST]
        ALG13-CDG [ALG13]
        TMEM165-CDG [TMEM165]
        Mental retardation, autosomal recessive 15 [MAN1B1]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        
        Communication Disorders
        Language Disorders
        Speech Disorders
        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]
        DPM1-CDG (GDGDB) [DPM1]
        DPAGT1-CDG (GDGDB) [DPAGT1]
        COG5-CDG [COG5]
        COG4-CDG [COG4]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        ST3GAL5-CDG [SIAT9]
        Articulation Disorders
        COG5-CDG [COG5]
        Dysarthria
        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]
        
        DDOST-CDG [DDOST]
        Mental retardation, autosomal recessive 15 [MAN1B1]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        
        Learning Disorders
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        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]
      - Neuromuscular Manifestations
        Muscle Hypertonia
        Muscle Spasticity
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        
        MPDU1-CDG (GDGDB) [MPDU1]
        DPAGT1-CDG (GDGDB) [DPAGT1]
        
        Muscle Hypotonia
        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]
        ALG12-CDG (GDGDB) [ALG12]
        ALG8-CDG (GDGDB) [ALG8]
        DPAGT1-CDG (GDGDB) [DPAGT1]
        ALG1-CDG (GDGDB) [ALG1]
        ALG9-CDG (GDGDB) [ALG9]
        DOLK-CDG [TMEM15]
        RFT1-CDG [RFT1]
        GCS1-CDG (GDGDB) [GCS1]
        SLC35C1-CDG (GDGDB) [SLC35C1]
        B4GALT1-CDG (GDGDB) [B4GALT1]
        COG7-CDG (GDGDB) [COG7]
        COG1-CDG [COG1]
        COG8-CDG [COG8]
        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]
        Cardiomyopathy, dilated, 1X (GDGDB) [FKTN]
        Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
        LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        B4GALT7-CDG [B4GALT7]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        ST3GAL5-CDG [SIAT9]
        ALG11-CDG [ALG11]
        SRD5A3-CDG [SRD5A3]
        DDOST-CDG [DDOST]
        ALG13-CDG [ALG13]
        TMEM165-CDG [TMEM165]
        COG6-CDG [COG6]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        
        Muscular Atrophy
        PMM2-CDG (GDGDB) [PMM2]
        MGAT2-CDG (GDGDB) [MGAT2]
        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]
        Cardiomyopathy, dilated, 1X (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]
        Hereditary inclusion body myopathy type 2 [GNE]
        Nonaka myopathy (GDGDB) [GNE]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        DPM3-CDG [DPM3]
        Myasthenia, congenital, with tubular aggregates 1 [GFPT1]
        
        Muscle Weakness
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        B4GALT1-CDG (GDGDB) [B4GALT1]
        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]
        Cardiomyopathy, dilated, 1X (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]
        Hereditary inclusion body myopathy type 2 [GNE]
        Nonaka myopathy (GDGDB) [GNE]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        DPM3-CDG [DPM3]
        TMEM165-CDG [TMEM165]
        Myasthenia, congenital, with tubular aggregates 1 [GFPT1]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
      - Pain
        Musculoskeletal Pain
        EXT1/EXT2-CDG [EXT1,EXT2]
        Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
      - Paralysis
        Quadriplegia
        DOLK-CDG [TMEM15]
      - Paresis
        Paraparesis
        Paraparesis, Spastic
        ALG3-CDG (GDGDB) [ALG3]
      - Sensation Disorders
        Hearing Disorders
        Hearing Loss
        ST3GAL5-CDG [SIAT9]
        
        Vision Disorders
        Blindness
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        ALG3-CDG (GDGDB) [ALG3]
        DPM1-CDG (GDGDB) [DPM1]
        ALG12-CDG (GDGDB) [ALG12]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        ST3GAL5-CDG [SIAT9]
        SRD5A3-CDG [SRD5A3]
        
        Vision, Low
        ALG3-CDG (GDGDB) [ALG3]
        MPDU1-CDG (GDGDB) [MPDU1]
        ALG1-CDG (GDGDB) [ALG1]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        B3GALTL-CDG [B3GALTL]
        ALG11-CDG [ALG11]
      - Reflex, Abnormal
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        ALG3-CDG (GDGDB) [ALG3]
        ALG1-CDG (GDGDB) [ALG1]
        COG4-CDG [COG4]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
      - Dyskinesias
        Ataxia
        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]
        DPM1-CDG (GDGDB) [DPM1]
        COG8-CDG [COG8]
        COG5-CDG [COG5]
        COG4-CDG [COG4]
        SRD5A3-CDG [SRD5A3]
        
        Myoclonus
        ALG6-CDG (GDGDB) [ALG6]
        RFT1-CDG [RFT1]
        COG8-CDG [COG8]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        ST3GAL5-CDG [SIAT9]
        
        Tremor
        DPAGT1-CDG (GDGDB) [DPAGT1]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
      - Seizures
        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]
        DPM1-CDG (GDGDB) [DPM1]
        MPDU1-CDG (GDGDB) [MPDU1]
        ALG12-CDG (GDGDB) [ALG12]
        ALG8-CDG (GDGDB) [ALG8]
        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]
        GCS1-CDG (GDGDB) [GCS1]
        SLC35C1-CDG (GDGDB) [SLC35C1]
        COG7-CDG (GDGDB) [COG7]
        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]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        ST3GAL5-CDG [SIAT9]
        PIGM-CDG [PIGM]
        ALG11-CDG [ALG11]
        ALG13-CDG [ALG13]
        COG6-CDG [COG6]
        Mental retardation, autosomal recessive 15 [MAN1B1]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]

Copyright © 2014-2023 National Institute of Advanced Industrial Science and Technology (AIST)