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 Abnormalities' (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
    - 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]

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