GGDonto

GGDonto: Genetic Glyco-Diseases Ontology

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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

'Musculoskeletal 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
  - Musculoskeletal Diseases
    - Bone Diseases
      - Bone Diseases, Developmental
        Dwarfism
        PMM2-CDG (GDGDB) [PMM2]
        MPDU1-CDG (GDGDB) [MPDU1]
        DOLK-CDG [TMEM15]
        MGAT2-CDG (GDGDB) [MGAT2]
        SLC35C1-CDG (GDGDB) [SLC35C1]
        COG1-CDG [COG1]
        B4GALT7-CDG [B4GALT7]
        EXT1/EXT2-CDG [EXT1,EXT2]
        Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
        Diastrophic dysplasia [SLC26A2]
        Achondrogenesis type IB [SLC26A2]
        Neonatal osseous dysplasia I [SLC26A2]
        Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        SLC35D1-CDG [SLC35D1]
        B3GALTL-CDG [B3GALTL]
        TMEM165-CDG [TMEM165]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        Dysostoses
        Osteochondrodysplasias
        SLC35D1-CDG [SLC35D1]
        Osteochondroma
        Osteochondromatosis
        Exostoses, Multiple Hereditary
        EXT1/EXT2-CDG [EXT1,EXT2]
        
        Osteogenesis Imperfecta
        Bruck syndrome 2 (GDGDB) [PLOD2]
        TMEM165-CDG [TMEM165]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        
        ALG12-CDG (GDGDB) [ALG12]
        Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
        Diastrophic dysplasia [SLC26A2]
        Achondrogenesis type IB [SLC26A2]
        SLC35D1-CDG [SLC35D1]
        LFNG-CDG [LFNG]
        TMEM165-CDG [TMEM165]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
      - Bone Diseases, Metabolic
        Osteoporosis
        PMM2-CDG (GDGDB) [PMM2]
        MGAT2-CDG (GDGDB) [MGAT2]
        COG1-CDG [COG1]
        ATP6VOA2-CDG [ATP6V0A2]
        B4GALT7-CDG [B4GALT7]
        Bruck syndrome 2 (GDGDB) [PLOD2]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        DDOST-CDG [DDOST]
        TMEM165-CDG [TMEM165]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
      - Spinal Diseases
        Spinal Curvatures
        Kyphosis
        Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
        Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
        Neonatal osseous dysplasia I [SLC26A2]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        SRD5A3-CDG [SRD5A3]
        TMEM165-CDG [TMEM165]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        Lordosis
        Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
        Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
        Neonatal osseous dysplasia I [SLC26A2]
        
        Scoliosis
        GCS1-CDG (GDGDB) [GCS1]
        Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
        Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
        Diastrophic dysplasia [SLC26A2]
        Neonatal osseous dysplasia I [SLC26A2]
        Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        LFNG-CDG [LFNG]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        ALG11-CDG [ALG11]
        ALG13-CDG [ALG13]
        TMEM165-CDG [TMEM165]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
        PMM2-CDG, adult stable disability stage [PMM2]
        
        MGAT2-CDG (GDGDB) [MGAT2]
        COG1-CDG [COG1]
        Diastrophic dysplasia [SLC26A2]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        TMEM165-CDG [TMEM165]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        
        Spondylosis
        COG1-CDG [COG1]
        Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
        SLC35D1-CDG [SLC35D1]
        LFNG-CDG [LFNG]
        TMEM165-CDG [TMEM165]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
      - Genu Valgum
        EXT1/EXT2-CDG [EXT1,EXT2]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
      - Hyperostosis
        Exostoses
        Exostoses, Multiple Hereditary
        EXT1/EXT2-CDG [EXT1,EXT2]
    - Joint Diseases
      - Arthritis
        Osteoarthritis
        Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
        Diastrophic dysplasia [SLC26A2]
        Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
      - Contracture
        Hip Contracture
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        
        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]
        DPAGT1-CDG (GDGDB) [DPAGT1]
        ALG1-CDG (GDGDB) [ALG1]
        Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
        Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        Diastrophic dysplasia [SLC26A2]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Bruck syndrome 2 (GDGDB) [PLOD2]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        ALG13-CDG [ALG13]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
      - Coxa Vara
        EXT1/EXT2-CDG [EXT1,EXT2]
      - Joint Instability
        ATP6VOA2-CDG [ATP6V0A2]
        B4GALT7-CDG [B4GALT7]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        TMEM165-CDG [TMEM165]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
      - ATP6VOA2-CDG [ATP6V0A2]
      - Bruck syndrome 2 (GDGDB) [PLOD2]
      - Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
    - Musculoskeletal Abnormalities
      - Craniofacial Abnormalities
        Craniofacial Dysostosis
        Hypertelorism
        DPM1-CDG (GDGDB) [DPM1]
        ALG1-CDG (GDGDB) [ALG1]
        ALG13-CDG [ALG13]
        Mental retardation, autosomal recessive 15 [MAN1B1]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        
        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]
        
        Maxillofacial Abnormalities
        PMM2-CDG (GDGDB) [PMM2]
        PMM2-CDG, infantile multisystem stage [PMM2]
        
        ALG3-CDG (GDGDB) [ALG3]
        DPM1-CDG (GDGDB) [DPM1]
        ALG12-CDG (GDGDB) [ALG12]
        ALG8-CDG (GDGDB) [ALG8]
        DPAGT1-CDG (GDGDB) [DPAGT1]
        ALG1-CDG (GDGDB) [ALG1]
        MGAT2-CDG (GDGDB) [MGAT2]
        GCS1-CDG (GDGDB) [GCS1]
        SLC35C1-CDG (GDGDB) [SLC35C1]
        COG7-CDG (GDGDB) [COG7]
        COG1-CDG [COG1]
        COG8-CDG [COG8]
        COG4-CDG [COG4]
        ATP6VOA2-CDG [ATP6V0A2]
        B4GALT7-CDG [B4GALT7]
        Neonatal osseous dysplasia I [SLC26A2]
        B3GALTL-CDG [B3GALTL]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        Jaw Abnormalities
        Cleft Palate
        Diastrophic dysplasia [SLC26A2]
        Neonatal osseous dysplasia I [SLC26A2]
        Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        SLC35D1-CDG [SLC35D1]
        B3GALTL-CDG [B3GALTL]
        PGM1-CDG [PGM1]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        
        Micrognathism
        DPAGT1-CDG (GDGDB) [DPAGT1]
        ALG1-CDG (GDGDB) [ALG1]
        COG7-CDG (GDGDB) [COG7]
        COG1-CDG [COG1]
        B3GALTL-CDG [B3GALTL]
        ALG13-CDG [ALG13]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        
        SRD5A3-CDG [SRD5A3]
        ALG13-CDG [ALG13]
        TMEM165-CDG [TMEM165]
        COG6-CDG [COG6]
        Mental retardation, autosomal recessive 15 [MAN1B1]
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        Retrognathia
        COG6-CDG [COG6]
        
        Pierre Robin Syndrome
        PGM1-CDG [PGM1]
        
        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]
        
        B4GALT7-CDG [B4GALT7]
        Diastrophic dysplasia [SLC26A2]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        ALG11-CDG [ALG11]
        ALG13-CDG [ALG13]
        Mental retardation, autosomal recessive 15 [MAN1B1]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
      - Hip Dislocation, Congenital
        ATP6VOA2-CDG [ATP6V0A2]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
      - Limb Deformities, Congenital
        Brachydactyly
        ALG6-CDG (GDGDB) [ALG6]
        Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
        SLC35D1-CDG [SLC35D1]
        B3GALTL-CDG [B3GALTL]
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        
        Lower Extremity Deformities, Congenital
        Foot Deformities, Congenital
        Clubfoot
        Diastrophic dysplasia [SLC26A2]
        Achondrogenesis type IB [SLC26A2]
        Neonatal osseous dysplasia I [SLC26A2]
        Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        Bruck syndrome 2 (GDGDB) [PLOD2]
        Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        
        Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        ALG13-CDG [ALG13]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        
        B3GALTL-CDG [B3GALTL]
        
        Upper Extremity Deformities, Congenital
        Hand Deformities, Congenital
        Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        B3GALTL-CDG [B3GALTL]
        ALG13-CDG [ALG13]
        Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        
        B3GALTL-CDG [B3GALTL]
        
        MGAT2-CDG (GDGDB) [MGAT2]
        Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
        Diastrophic dysplasia [SLC26A2]
        Achondrogenesis type IB [SLC26A2]
        Neonatal osseous dysplasia I [SLC26A2]
        Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
        SLC35D1-CDG [SLC35D1]
        ALG13-CDG [ALG13]
        COG6-CDG [COG6]
        Temtamy preaxial brachydactyly syndrome [CHSY1]
        Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
      - Arthrogryposis
        ALG3-CDG (GDGDB) [ALG3]
        Bruck syndrome 2 (GDGDB) [PLOD2]
        Ehlers-Danlos syndrome, musculocontractural type [CHST14]
      - COG7-CDG (GDGDB) [COG7]
      - ATP6VOA2-CDG [ATP6V0A2]
      - Diastrophic dysplasia [SLC26A2]
      - Achondrogenesis type IB [SLC26A2]
      - Neonatal osseous dysplasia I [SLC26A2]
      - Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
      - SLC35D1-CDG [SLC35D1]
      - LFNG-CDG [LFNG]
      - Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
      - Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
      - TMEM165-CDG [TMEM165]
      - Temtamy preaxial brachydactyly syndrome [CHSY1]
    - Muscular Diseases
      - Muscle Spasticity
        POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
      - 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]
      - Muscular Disorders, Atrophic
        Muscular Dystrophies
        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]
      - DPM3-CDG [DPM3]
    - Cartilage Diseases
      - Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
      - Diastrophic dysplasia [SLC26A2]
      - Achondrogenesis type IB [SLC26A2]
      - Neonatal osseous dysplasia I [SLC26A2]
      - Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
      - SLC35D1-CDG [SLC35D1]

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