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

'Eye Diseases' (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
  - Eye Diseases
    - Corneal Diseases
      - Corneal Opacity
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Macular corneal dystrophy [CHST6]
        B3GALTL-CDG [B3GALTL]
      - Macular corneal dystrophy [CHST6]
      - Corneal Dystrophies, Hereditary
        Macular corneal dystrophy [CHST6]
        B3GALTL-CDG [B3GALTL]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
    - Eye Abnormalities
      - Coloboma
        ALG3-CDG (GDGDB) [ALG3]
        ALG2-CDG (GDGDB) [ALG2]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        SRD5A3-CDG [SRD5A3]
      - Hydrophthalmos
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
      - Microphthalmos
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
      - 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]
      - Retinal Dysplasia
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
      - SRD5A3-CDG [SRD5A3]
      - TMEM165-CDG [TMEM165]
    - Lens Diseases
      - Cataract
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        
        ALG2-CDG (GDGDB) [ALG2]
        DPAGT1-CDG (GDGDB) [DPAGT1]
        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]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        SRD5A3-CDG [SRD5A3]
      - B3GALTL-CDG [B3GALTL]
    - Ocular Hypertension
      - Glaucoma
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        B3GALTL-CDG [B3GALTL]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
    - Retinal Diseases
      - Retinal Degeneration
        Retinal Dystrophies
        Retinitis Pigmentosa
        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]
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
      - Retinal Detachment
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
      - DPM1-CDG (GDGDB) [DPM1]
      - Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
    - Eye Diseases, Hereditary
      - POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
      - POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
      - Corneal Dystrophies, Hereditary
        Macular corneal dystrophy [CHST6]
        B3GALTL-CDG [B3GALTL]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
      - Optic Atrophies, Hereditary
        ALG3-CDG (GDGDB) [ALG3]
        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]
        SRD5A3-CDG [SRD5A3]
        ALG13-CDG [ALG13]
      - Retinal Dysplasia
        POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
      - Retinitis Pigmentosa
        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]
      - SRD5A3-CDG [SRD5A3]
      - TMEM165-CDG [TMEM165]
      - Ehlers-Danlos syndrome, musculocontractural type [CHST14]
    - Eye Manifestations
      - Eye Pain
        Macular corneal dystrophy [CHST6]
    - Eyelid Diseases
      - COG8-CDG [COG8]
    - Refractive Errors
      - Hyperopia
        ALG6-CDG (GDGDB) [ALG6]
      - Myopia
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        
        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]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
    - Ocular Motility Disorders
      - RFT1-CDG [RFT1]
      - Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
      - Nystagmus, Pathologic
        Nystagmus, Congenital
        DPM1-CDG (GDGDB) [DPM1]
        DOLK-CDG [TMEM15]
        COG4-CDG [COG4]
        SRD5A3-CDG [SRD5A3]
        ALG13-CDG [ALG13]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
      - Strabismus
        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]
        Esotropia
        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]
        
        ALG9-CDG (GDGDB) [ALG9]
        COG8-CDG [COG8]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        
        Exotropia
        DPAGT1-CDG (GDGDB) [DPAGT1]
        
        ALG11-CDG [ALG11]
        DDOST-CDG [DDOST]
    - Vision Disorders
      - Blindness
        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]
        
        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]
      - Photophobia
        Macular corneal dystrophy [CHST6]
    - Optic Nerve Diseases
      - Optic Atrophy
        Optic Atrophies, Hereditary
        ALG3-CDG (GDGDB) [ALG3]
        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]
        SRD5A3-CDG [SRD5A3]
        ALG13-CDG [ALG13]
      - SRD5A3-CDG [SRD5A3]
      - ALG13-CDG [ALG13]

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