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• Concept Types
  • target (classification term)
  • classification term
  • pathway-based classification term
  • clinical findings
  • multiple types disease
  • single disease
  • disease type

'Genetic disorders of glycan synthesis (by systems, signs and symptoms)'  (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
    • Cardiovascular Diseases
      • Cardiovascular Abnormalities
        • Heart Defects, Congenital
          • PMM2-CDG (GDGDB) [PMM2]
            • PMM2-CDG, infantile multisystem stage [PMM2]
          • COG1-CDG [COG1]
          • B3GALTL-CDG [B3GALTL]
          • SRD5A3-CDG [SRD5A3]
          • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
          • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
          • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
          • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
      • Heart Diseases
        • Cardiomegaly
          • Cardiomyopathy, dilated, 1X (GDGDB) [FKTN]
        • Heart Failure
          • DOLK-CDG [TMEM15]
          • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        • Heart Valve Diseases
          • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        • Cardiomyopathies
          • Endomyocardial Fibrosis
            • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
          • PMM2-CDG (GDGDB) [PMM2]
            • PMM2-CDG, infantile multisystem stage [PMM2]
          • ALG1-CDG (GDGDB) [ALG1]
          • DOLK-CDG [TMEM15]
          • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
          • Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
          • Cardiomyopathy, dilated, 1X (GDGDB) [FKTN]
          • Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
          • Duchenne muscular dystrophy [DMD]
          • DPM3-CDG [DPM3]
          • PGM1-CDG [PGM1]
        • Pericardial Effusion
          • 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]
        • Arrhythmias, Cardiac
          • DOLK-CDG [TMEM15]
        • ALG12-CDG (GDGDB) [ALG12]
        • ALG8-CDG (GDGDB) [ALG8]
        • Cardiomyopathy, dilated, 1X (GDGDB) [FKTN]
        • Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
        • DPM3-CDG [DPM3]
        • SRD5A3-CDG [SRD5A3]
        • PGM1-CDG [PGM1]
        • 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]
        • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
      • Vascular Diseases
        • Aneurysm
          • Aneurysm, Dissecting
            • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
          • Aneurysm, Ruptured
            • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
            • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
          • Intracranial Aneurysm
            • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
          • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
          • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        • Embolism and Thrombosis
          • Thrombosis
            • Venous Thrombosis
              • PMM2-CDG (GDGDB) [PMM2]
                • PMM2-CDG, adult stable disability stage [PMM2]
              • ALG6-CDG (GDGDB) [ALG6]
              • PIGM-CDG [PIGM]
            • Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
            • PGM1-CDG [PGM1]
        • Cerebrovascular 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]
          • DPM3-CDG [DPM3]
          • PGM1-CDG [PGM1]
        • Hemostatic Disorders
          • Ehlers-Danlos Syndrome
            • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
    • Digestive System Diseases
      • Gastrointestinal Diseases
        • Esophageal Diseases
          • Deglutition Disorders
            • Esophageal Motility Disorders
              • Esophageal Spasm, Diffuse
                • Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
        • Intestinal Diseases
          • Protein-Losing Enteropathies
            • MPI-CDG (GDGDB) [MPI]
            • ALG6-CDG (GDGDB) [ALG6]
            • ALG8-CDG (GDGDB) [ALG8]
          • ALG8-CDG (GDGDB) [ALG8]
        • Gastrointestinal Hemorrhage
          • MPI-CDG (GDGDB) [MPI]
          • ALG11-CDG [ALG11]
        • COG6-CDG [COG6]
        • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
      • Liver Diseases
        • Hepatomegaly
          • MPI-CDG (GDGDB) [MPI]
          • ALG8-CDG (GDGDB) [ALG8]
          • ALG2-CDG (GDGDB) [ALG2]
          • ALG1-CDG (GDGDB) [ALG1]
          • ALG9-CDG (GDGDB) [ALG9]
          • RFT1-CDG [RFT1]
          • GCS1-CDG (GDGDB) [GCS1]
          • B4GALT1-CDG (GDGDB) [B4GALT1]
          • COG7-CDG (GDGDB) [COG7]
          • COG1-CDG [COG1]
          • COG4-CDG [COG4]
          • PIGM-CDG [PIGM]
          • ALG13-CDG [ALG13]
          • TMEM165-CDG [TMEM165]
          • COG6-CDG [COG6]
        • Hepatic Insufficiency
          • PMM2-CDG (GDGDB) [PMM2]
        • Hypertension, Portal
          • PIGM-CDG [PIGM]
        • Liver Cirrhosis
          • PMM2-CDG (GDGDB) [PMM2]
            • PMM2-CDG, infantile multisystem stage [PMM2]
          • COG4-CDG [COG4]
          • COG6-CDG [COG6]
        • PMM2-CDG (GDGDB) [PMM2]
        • MPI-CDG (GDGDB) [MPI]
        • ALG3-CDG (GDGDB) [ALG3]
        • ALG8-CDG (GDGDB) [ALG8]
        • ALG1-CDG (GDGDB) [ALG1]
        • SRD5A3-CDG [SRD5A3]
        • DDOST-CDG [DDOST]
        • PGM1-CDG [PGM1]
        • COG6-CDG [COG6]
      • Biliary Tract Diseases
        • Cholelithiasis
          • SEC23B-CDG (GDGDB) [SEC23B]
      • Digestive System Abnormalities
        • Anus, Imperforate
          • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
          • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        • COG6-CDG [COG6]
        • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
    • Endocrine System Diseases
      • Gonadal Disorders
        • Disorders of Sex Development
          • Adrenogenital Syndrome
            • Hyperandrogenism
              • ALG6-CDG (GDGDB) [ALG6]
          • PMM2-CDG (GDGDB) [PMM2]
            • PMM2-CDG, adult stable disability stage [PMM2]
          • ALG6-CDG (GDGDB) [ALG6]
        • Hypogonadism
          • 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]
          • ALG12-CDG (GDGDB) [ALG12]
          • ALG1-CDG (GDGDB) [ALG1]
        • Ovarian Diseases
          • PMM2-CDG (GDGDB) [PMM2]
            • PMM2-CDG, adult stable disability stage [PMM2]
        • Puberty, Delayed
          • PMM2-CDG (GDGDB) [PMM2]
            • PMM2-CDG, adult stable disability stage [PMM2]
          • ALG6-CDG (GDGDB) [ALG6]
          • MGAT2-CDG (GDGDB) [MGAT2]
      • Pituitary Diseases
        • Hyperpituitarism
          • Hyperprolactinemia
            • PMM2-CDG (GDGDB) [PMM2]
              • PMM2-CDG, adult stable disability stage [PMM2]
      • Thyroid Diseases
        • Hypothyroidism
          • PMM2-CDG (GDGDB) [PMM2]
          • ALG8-CDG (GDGDB) [ALG8]
      • PMM2-CDG (GDGDB) [PMM2]
        • PMM2-CDG, adult stable disability stage [PMM2]
      • ALG6-CDG (GDGDB) [ALG6]
      • SRD5A3-CDG [SRD5A3]
      • TMEM165-CDG [TMEM165]
    • 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]
    • Female Urogenital Diseases and Pregnancy Complications
      • Female Urogenital Diseases
        • Urologic Diseases
          • Kidney Diseases
            • Kidney Diseases, Cystic
              • PMM2-CDG (GDGDB) [PMM2]
                • PMM2-CDG, infantile multisystem stage [PMM2]
              • ALG9-CDG (GDGDB) [ALG9]
            • Nephrosis
              • Nephrotic Syndrome
                • PMM2-CDG (GDGDB) [PMM2]
                  • PMM2-CDG, infantile multisystem stage [PMM2]
                • ALG1-CDG (GDGDB) [ALG1]
              • COG6-CDG [COG6]
              • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
              • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
          • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        • Urogenital Abnormalities
          • GCS1-CDG (GDGDB) [GCS1]
          • B3GALTL-CDG [B3GALTL]
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
          • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
      • Pregnancy Complications
        • Fetal Death
          • Achondrogenesis type IB [SLC26A2]
          • Neonatal osseous dysplasia I [SLC26A2]
        • Polyhydramnios
          • SLC35D1-CDG [SLC35D1]
    • Hemic and Lymphatic Diseases
      • Hematologic Diseases
        • Anemia
          • Anemia, Hemolytic
            • Hemoglobinuria, Paroxysmal
              • Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
            • Anemia, Hemolytic, Congenital
              • Anemia, Dyserythropoietic, Congenital
                • SEC23B-CDG (GDGDB) [SEC23B]
            • Anemia, Hemolytic, Autoimmune
              • Tn polyagglutination syndrome, somatic (SOMATIC MUTATION) [C1GALT1C1]
          • ALG8-CDG (GDGDB) [ALG8]
          • DPAGT1-CDG (GDGDB) [DPAGT1]
          • SEC23B-CDG (GDGDB) [SEC23B]
          • SRD5A3-CDG [SRD5A3]
        • Blood Platelet Disorders
          • Thrombocytopenia
            • ALG8-CDG (GDGDB) [ALG8]
            • SLC35A1-CDG [SLC35A1]
            • COG4-CDG [COG4]
            • Tn polyagglutination syndrome, somatic (SOMATIC MUTATION) [C1GALT1C1]
        • Hemorrhagic Disorders
          • SLC35A1-CDG [SLC35A1]
          • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
          • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
          • Hemostatic Disorders
            • Ehlers-Danlos Syndrome
              • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        • Blood Coagulation Disorders
          • Coagulation Protein 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]
            • COG8-CDG [COG8]
            • COG4-CDG [COG4]
            • SRD5A3-CDG [SRD5A3]
            • DDOST-CDG [DDOST]
            • PGM1-CDG [PGM1]
          • 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]
          • MPI-CDG (GDGDB) [MPI]
          • ALG6-CDG (GDGDB) [ALG6]
          • ALG12-CDG (GDGDB) [ALG12]
          • ALG8-CDG (GDGDB) [ALG8]
          • ALG2-CDG (GDGDB) [ALG2]
          • ALG1-CDG (GDGDB) [ALG1]
          • RFT1-CDG [RFT1]
          • MGAT2-CDG (GDGDB) [MGAT2]
          • B4GALT1-CDG (GDGDB) [B4GALT1]
          • COG8-CDG [COG8]
          • COG4-CDG [COG4]
          • SRD5A3-CDG [SRD5A3]
          • COG6-CDG [COG6]
        • Blood Protein Disorders
          • Hypoproteinemia
            • Hypoalbuminemia
              • PMM2-CDG (GDGDB) [PMM2]
                • PMM2-CDG, infantile multisystem stage [PMM2]
              • ALG8-CDG (GDGDB) [ALG8]
            • DPAGT1-CDG (GDGDB) [DPAGT1]
        • Leukocyte Disorders
          • Leukocytosis
            • SLC35C1-CDG (GDGDB) [SLC35C1]
          • Leukopenia
            • Agranulocytosis
              • Neutropenia
                • SLC35A1-CDG [SLC35A1]
            • Tn polyagglutination syndrome, somatic (SOMATIC MUTATION) [C1GALT1C1]
      • Lymphatic Diseases
        • Splenic Diseases
          • ALG1-CDG (GDGDB) [ALG1]
          • ALG9-CDG (GDGDB) [ALG9]
          • COG7-CDG (GDGDB) [COG7]
          • COG1-CDG [COG1]
          • COG4-CDG [COG4]
          • SEC23B-CDG (GDGDB) [SEC23B]
          • PIGM-CDG [PIGM]
          • TMEM165-CDG [TMEM165]
    • Male Urogenital Diseases
      • Urologic Diseases
        • Kidney Diseases
          • Kidney Diseases, Cystic
            • PMM2-CDG (GDGDB) [PMM2]
              • PMM2-CDG, infantile multisystem stage [PMM2]
            • ALG9-CDG (GDGDB) [ALG9]
          • Nephrosis
            • Nephrotic Syndrome
              • PMM2-CDG (GDGDB) [PMM2]
                • PMM2-CDG, infantile multisystem stage [PMM2]
              • ALG1-CDG (GDGDB) [ALG1]
            • COG6-CDG [COG6]
            • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
            • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
      • Urogenital Abnormalities
        • B3GALTL-CDG [B3GALTL]
        • Cryptorchidism
          • DPAGT1-CDG (GDGDB) [DPAGT1]
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        • Hypospadias
          • ALG12-CDG (GDGDB) [ALG12]
        • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
    • 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]
    • Neoplasms
      • Neoplasms by Histologic Type
        • Neoplasms, Connective and Soft Tissue
          • Neoplasms, Connective Tissue
            • Neoplasms, Bone Tissue
              • Osteochondroma
                • Osteochondromatosis
                  • Exostoses, Multiple Hereditary
                    • EXT1/EXT2-CDG [EXT1,EXT2]
      • Neoplastic Syndromes, Hereditary
        • Exostoses, Multiple Hereditary
          • EXT1/EXT2-CDG [EXT1,EXT2]
    • Nervous System Diseases
      • Central Nervous System Diseases
        • Brain Diseases
          • Intracranial Hypertension
            • Pseudotumor Cerebri
              • ALG6-CDG (GDGDB) [ALG6]
            • Hydrocephalus
              • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
              • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
              • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
              • ALG13-CDG [ALG13]
              • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
          • Cerebellar Diseases
            • 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]
            • ALG1-CDG (GDGDB) [ALG1]
            • B4GALT1-CDG (GDGDB) [B4GALT1]
            • COG8-CDG [COG8]
            • COG5-CDG [COG5]
            • 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]
            • SRD5A3-CDG [SRD5A3]
          • Epilepsy
            • Epilepsies, Myoclonic
              • ST3GAL5-CDG [SIAT9]
            • Epilepsy, Generalized
              • Spasms, Infantile
                • ALG3-CDG (GDGDB) [ALG3]
                • ALG2-CDG (GDGDB) [ALG2]
                • DPAGT1-CDG (GDGDB) [DPAGT1]
            • Status Epilepticus
              • ST3GAL5-CDG [SIAT9]
            • Seizures
              • ST3GAL5-CDG [SIAT9]
            • PMM2-CDG (GDGDB) [PMM2]
            • ALG6-CDG (GDGDB) [ALG6]
            • ALG3-CDG (GDGDB) [ALG3]
            • ALG1-CDG (GDGDB) [ALG1]
            • MGAT2-CDG (GDGDB) [MGAT2]
            • COG7-CDG (GDGDB) [COG7]
            • COG8-CDG [COG8]
            • ATP6VOA2-CDG [ATP6V0A2]
            • ST3GAL5-CDG [SIAT9]
            • ALG11-CDG [ALG11]
            • ALG13-CDG [ALG13]
            • TMEM165-CDG [TMEM165]
            • Mental retardation, autosomal recessive 15 [MAN1B1]
            • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
          • Cerebrovascular 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]
            • DPM3-CDG [DPM3]
            • PGM1-CDG [PGM1]
          • Hydrocephalus
            • 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]
            • B3GALTL-CDG [B3GALTL]
            • ALG13-CDG [ALG13]
            • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        • Movement Disorders
          • Dyskinesias
            • ST3GAL5-CDG [SIAT9]
          • COG4-CDG [COG4]
          • ST3GAL5-CDG [SIAT9]
          • SRD5A3-CDG [SRD5A3]
        • Spinal Cord Diseases
          • Spinal Cord Compression
            • EXT1/EXT2-CDG [EXT1,EXT2]
        • Ocular Motility Disorders
          • RFT1-CDG [RFT1]
          • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
      • Demyelinating Diseases
        • Hereditary Central Nervous System Demyelinating Diseases
          • DDOST-CDG [DDOST]
          • ALG13-CDG [ALG13]
          • TMEM165-CDG [TMEM165]
          • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
          • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
      • Nervous System Malformations
        • Malformations of Cortical Development
          • Lissencephaly
            • Cobblestone Lissencephaly
              • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
              • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
              • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
          • Neuronal Migration Disorders
            • 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]
            • Cobblestone Lissencephaly
              • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
              • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
              • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
          • 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]
          • 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]
          • 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]
        • Central Nervous System Cysts
          • 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]
          • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        • PMM2-CDG (GDGDB) [PMM2]
          • PMM2-CDG, infantile multisystem stage [PMM2]
        • 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]
        • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        • B3GALTL-CDG [B3GALTL]
        • SRD5A3-CDG [SRD5A3]
        • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
      • Neurodegenerative Diseases
        • Heredodegenerative Disorders, Nervous System
          • PMM2-CDG (GDGDB) [PMM2]
            • PMM2-CDG, infantile multisystem stage [PMM2]
            • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
          • ALG3-CDG (GDGDB) [ALG3]
          • ALG1-CDG (GDGDB) [ALG1]
          • ALG9-CDG (GDGDB) [ALG9]
          • COG7-CDG (GDGDB) [COG7]
          • COG1-CDG [COG1]
          • COG8-CDG [COG8]
          • COG5-CDG [COG5]
          • COG4-CDG [COG4]
          • ATP6VOA2-CDG [ATP6V0A2]
          • B3GALTL-CDG [B3GALTL]
          • ST3GAL5-CDG [SIAT9]
          • SRD5A3-CDG [SRD5A3]
          • DDOST-CDG [DDOST]
          • ALG13-CDG [ALG13]
          • TMEM165-CDG [TMEM165]
          • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
          • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
      • 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]
      • Neuromuscular Diseases
        • Peripheral Nervous System Diseases
          • Nerve Compression Syndromes
            • EXT1/EXT2-CDG [EXT1,EXT2]
          • Polyneuropathy
            • 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]
            • DPM1-CDG (GDGDB) [DPM1]
            • COG8-CDG [COG8]
            • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        • Muscular Diseases
          • 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]
      • Cranial Nerve Diseases
        • 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]
            • ALG6-CDG (GDGDB) [ALG6]
            • ALG3-CDG (GDGDB) [ALG3]
            • DPM1-CDG (GDGDB) [DPM1]
            • Esotropia
              • PMM2-CDG (GDGDB) [PMM2]
                • PMM2-CDG, infantile multisystem 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]
        • Optic Nerve Diseases
          • Optic Atrophy
            • ST3GAL5-CDG [SIAT9]
            • 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]
    • Otorhinolaryngologic Diseases
      • Ear Diseases
        • Otitis
          • SLC35C1-CDG (GDGDB) [SLC35C1]
          • DDOST-CDG [DDOST]
        • Hearing Disorders
          • Hearing Loss
            • ALG12-CDG (GDGDB) [ALG12]
            • RFT1-CDG [RFT1]
            • MGAT2-CDG (GDGDB) [MGAT2]
            • B3GALTL-CDG [B3GALTL]
            • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
            • ALG11-CDG [ALG11]
            • Temtamy preaxial brachydactyly syndrome [CHSY1]
            • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
            • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
      • Pharyngeal Diseases
        • Deglutition Disorders
          • DPM1-CDG (GDGDB) [DPM1]
          • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
          • DDOST-CDG [DDOST]
    • Pathological Conditions, Signs and Symptoms
      • Pathologic Processes
        • Growth Disorders
          • Fetal Growth Retardation
            • Diastrophic dysplasia [SLC26A2]
            • Achondrogenesis type IB [SLC26A2]
            • B3GALTL-CDG [B3GALTL]
            • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
            • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
          • PMM2-CDG (GDGDB) [PMM2]
            • PMM2-CDG, infantile multisystem stage [PMM2]
          • MPI-CDG (GDGDB) [MPI]
          • ALG3-CDG (GDGDB) [ALG3]
          • MPDU1-CDG (GDGDB) [MPDU1]
          • ALG12-CDG (GDGDB) [ALG12]
          • ALG9-CDG (GDGDB) [ALG9]
          • DOLK-CDG [TMEM15]
          • RFT1-CDG [RFT1]
          • MGAT2-CDG (GDGDB) [MGAT2]
          • SLC35C1-CDG (GDGDB) [SLC35C1]
          • COG7-CDG (GDGDB) [COG7]
          • COG1-CDG [COG1]
          • COG4-CDG [COG4]
          • ATP6VOA2-CDG [ATP6V0A2]
          • Diastrophic dysplasia [SLC26A2]
          • Achondrogenesis type IB [SLC26A2]
          • B3GALTL-CDG [B3GALTL]
          • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
          • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
          • TMEM165-CDG [TMEM165]
          • Temtamy preaxial brachydactyly syndrome [CHSY1]
        • Hyperbilirubinemia
          • Jaundice
            • DPAGT1-CDG (GDGDB) [DPAGT1]
            • COG7-CDG (GDGDB) [COG7]
            • SEC23B-CDG (GDGDB) [SEC23B]
        • Hemolysis
          • Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
        • Hemorrhage
          • PMM2-CDG (GDGDB) [PMM2]
          • MGAT2-CDG (GDGDB) [MGAT2]
          • SLC35A1-CDG [SLC35A1]
          • Gastrointestinal Hemorrhage
            • MPI-CDG (GDGDB) [MPI]
            • ALG11-CDG [ALG11]
          • ALG13-CDG [ALG13]
          • COG6-CDG [COG6]
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        • Inflammation
          • Systemic Inflammatory Response Syndrome
            • Sepsis
              • COG4-CDG [COG4]
      • Pathological Conditions, Anatomical
        • Hernia
          • Hernia, Abdominal
            • Hernia, Inguinal
              • ATP6VOA2-CDG [ATP6V0A2]
              • Achondrogenesis type IB [SLC26A2]
              • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
              • Bruck syndrome 2 (GDGDB) [PLOD2]
              • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
            • Hernia, Ventral
              • Hernia, Umbilical
                • Achondrogenesis type IB [SLC26A2]
        • Rupture, Spontaneous
          • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
          • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
      • Signs and Symptoms
        • Body Temperature Changes
          • Fever
            • COG7-CDG (GDGDB) [COG7]
            • TMEM165-CDG [TMEM165]
          • ALG11-CDG [ALG11]
        • Edema
          • Hydrops Fetalis
            • PMM2-CDG (GDGDB) [PMM2]
              • PMM2-CDG, infantile multisystem stage [PMM2]
            • ALG1-CDG (GDGDB) [ALG1]
            • SLC35D1-CDG [SLC35D1]
          • ALG12-CDG (GDGDB) [ALG12]
          • GCS1-CDG (GDGDB) [GCS1]
          • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
          • ALG13-CDG [ALG13]
        • Mobility Limitation
          • PMM2-CDG (GDGDB) [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]
          • 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]
          • EXT1/EXT2-CDG [EXT1,EXT2]
          • Diastrophic dysplasia [SLC26A2]
          • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
          • ST3GAL5-CDG [SIAT9]
          • DPM3-CDG [DPM3]
          • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
          • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        • Signs and Symptoms, Digestive
          • Constipation
            • DDOST-CDG [DDOST]
          • Diarrhea
            • PMM2-CDG (GDGDB) [PMM2]
              • PMM2-CDG, infantile multisystem stage [PMM2]
            • MPI-CDG (GDGDB) [MPI]
            • ALG3-CDG (GDGDB) [ALG3]
            • ALG8-CDG (GDGDB) [ALG8]
            • MGAT2-CDG (GDGDB) [MGAT2]
            • COG4-CDG [COG4]
            • COG6-CDG [COG6]
          • Vomiting
            • PMM2-CDG (GDGDB) [PMM2]
              • PMM2-CDG, infantile multisystem stage [PMM2]
            • MPI-CDG (GDGDB) [MPI]
            • ALG3-CDG (GDGDB) [ALG3]
            • ALG8-CDG (GDGDB) [ALG8]
            • ST3GAL5-CDG [SIAT9]
            • ALG11-CDG [ALG11]
            • COG6-CDG [COG6]
          • Abdominal Pain
            • Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
          • ALG3-CDG (GDGDB) [ALG3]
          • MGAT2-CDG (GDGDB) [MGAT2]
        • Urological Manifestations
          • Proteinuria
            • Hemoglobinuria
              • Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
        • Failure to Thrive
          • PMM2-CDG (GDGDB) [PMM2]
            • PMM2-CDG, infantile multisystem stage [PMM2]
          • MPI-CDG (GDGDB) [MPI]
          • ALG3-CDG (GDGDB) [ALG3]
          • MPDU1-CDG (GDGDB) [MPDU1]
          • ALG12-CDG (GDGDB) [ALG12]
          • ALG9-CDG (GDGDB) [ALG9]
          • DOLK-CDG [TMEM15]
          • RFT1-CDG [RFT1]
          • MGAT2-CDG (GDGDB) [MGAT2]
          • SLC35C1-CDG (GDGDB) [SLC35C1]
          • COG7-CDG (GDGDB) [COG7]
          • COG1-CDG [COG1]
          • COG8-CDG [COG8]
          • COG4-CDG [COG4]
          • ATP6VOA2-CDG [ATP6V0A2]
          • ST3GAL5-CDG [SIAT9]
          • ALG11-CDG [ALG11]
          • DDOST-CDG [DDOST]
          • COG6-CDG [COG6]
        • Fatigue
          • Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
          • PGM1-CDG [PGM1]
        • Reticulocytosis
          • SEC23B-CDG (GDGDB) [SEC23B]
        • Virilism
          • ALG6-CDG (GDGDB) [ALG6]
    • Respiratory Tract Diseases
      • Lung Diseases
        • ALG8-CDG (GDGDB) [ALG8]
        • Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
        • TMEM165-CDG [TMEM165]
      • Respiration Disorders
        • Apnea
          • GCS1-CDG (GDGDB) [GCS1]
        • Dyspnea
          • ALG8-CDG (GDGDB) [ALG8]
          • PGM1-CDG [PGM1]
        • Respiratory Insufficiency
          • Hypoventilation
            • GCS1-CDG (GDGDB) [GCS1]
          • DPAGT1-CDG (GDGDB) [DPAGT1]
          • ALG1-CDG (GDGDB) [ALG1]
          • GCS1-CDG (GDGDB) [GCS1]
          • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
          • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
          • Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
          • Diastrophic dysplasia [SLC26A2]
          • Achondrogenesis type IB [SLC26A2]
          • Neonatal osseous dysplasia I [SLC26A2]
        • MPDU1-CDG (GDGDB) [MPDU1]
        • DPAGT1-CDG (GDGDB) [DPAGT1]
      • Respiratory Tract Infections
        • ALG12-CDG (GDGDB) [ALG12]
        • DOLK-CDG [TMEM15]
        • MGAT2-CDG (GDGDB) [MGAT2]
        • SLC35C1-CDG (GDGDB) [SLC35C1]
        • SLC35A1-CDG [SLC35A1]
        • COG4-CDG [COG4]
        • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
        • ALG13-CDG [ALG13]
        • COG6-CDG [COG6]
      • Respiratory Hypersensitivity
        • Asthma
          • ALG9-CDG (GDGDB) [ALG9]
      • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
    • Skin and Connective Tissue Diseases
      • Connective Tissue Diseases
        • Cutis Laxa
          • COG7-CDG (GDGDB) [COG7]
          • ATP6VOA2-CDG [ATP6V0A2]
          • B4GALT7-CDG [B4GALT7]
        • Collagen Diseases
          • Ehlers-Danlos Syndrome
          • Osteogenesis Imperfecta
            • Bruck syndrome 2 (GDGDB) [PLOD2]
            • TMEM165-CDG [TMEM165]
            • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        • B4GALT7-CDG [B4GALT7]
        • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        • 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]
        • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
      • Skin Diseases
        • Skin Abnormalities
          • Ichthyosis
            • DOLK-CDG [TMEM15]
            • SRD5A3-CDG [SRD5A3]
          • PMM2-CDG (GDGDB) [PMM2]
            • PMM2-CDG, infantile multisystem stage [PMM2]
          • MPDU1-CDG (GDGDB) [MPDU1]
          • GALNT3-CDG [GALNT3]
          • Ehlers-Danlos Syndrome
            • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
          • ALG11-CDG [ALG11]
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        • Dermatitis
          • Dermatitis, Exfoliative
            • MPDU1-CDG (GDGDB) [MPDU1]
        • Hair Diseases
          • Hypotrichosis
            • Alopecia
              • DOLK-CDG [TMEM15]
          • Hypertrichosis
            • SRD5A3-CDG [SRD5A3]
        • Skin Diseases, Genetic
          • Ehlers-Danlos Syndrome
            • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
          • ALG11-CDG [ALG11]
          • SRD5A3-CDG [SRD5A3]
          • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
    • Stomatognathic Diseases
      • Mouth Diseases
        • Tongue Diseases
          • Macroglossia
            • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
            • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
            • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
      • Stomatognathic System Abnormalities
        • Mouth Abnormalities
          • Cleft Lip
            • B3GALTL-CDG [B3GALTL]
            • 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]
        • Tooth Abnormalities
          • Dental Enamel Hypoplasia
            • GALNT3-CDG [GALNT3]
          • B4GALT7-CDG [B4GALT7]
          • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
          • Mental retardation, autosomal recessive 12 [ST3GAL3]
          • Temtamy preaxial brachydactyly syndrome [CHSY1]
          • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        • Maxillofacial Abnormalities
          • 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]
            • Retrognathia
              • COG6-CDG [COG6]
            • Pierre Robin Syndrome
              • PGM1-CDG [PGM1]
    • Immune System Diseases
      • Autoimmune Diseases
        • Anemia, Hemolytic, Autoimmune
          • Tn polyagglutination syndrome, somatic (SOMATIC MUTATION) [C1GALT1C1]
      • Immunologic Deficiency Syndromes
        • Dysgammaglobulinemia
          • ALG12-CDG (GDGDB) [ALG12]
          • ALG1-CDG (GDGDB) [ALG1]
          • COG6-CDG [COG6]
        • Leukocyte-Adhesion Deficiency Syndrome
          • SLC35C1-CDG (GDGDB) [SLC35C1]
        • PMM2-CDG (GDGDB) [PMM2]
          • PMM2-CDG, infantile multisystem stage [PMM2]
        • ALG12-CDG (GDGDB) [ALG12]
        • ALG1-CDG (GDGDB) [ALG1]
        • SLC35C1-CDG (GDGDB) [SLC35C1]
        • SLC35A1-CDG [SLC35A1]
        • COG6-CDG [COG6]
    • Nutritional and Metabolic Diseases
      • Metabolic Diseases
        • Calcium Metabolism Disorders
          • Calcinosis
            • Vascular Calcification
              • GALNT3-CDG [GALNT3]
            • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
            • Diastrophic dysplasia [SLC26A2]
            • GALNT3-CDG [GALNT3]
        • Glucose Metabolism Disorders
          • Hyperinsulinism
            • Insulin Resistance
              • PMM2-CDG (GDGDB) [PMM2]
                • PMM2-CDG, adult stable disability stage [PMM2]
            • PMM2-CDG (GDGDB) [PMM2]
              • PMM2-CDG, adult stable disability stage [PMM2]
          • Hypoglycemia
            • PMM2-CDG (GDGDB) [PMM2]
              • PMM2-CDG, adult stable disability stage [PMM2]
            • MPI-CDG (GDGDB) [MPI]
            • DOLK-CDG [TMEM15]
        • Phosphorus Metabolism Disorders
          • Hyperphosphatemia
            • GALNT3-CDG [GALNT3]
      • Nutrition Disorders
        • Overnutrition
          • Obesity
            • Mental retardation, autosomal recessive 15 [MAN1B1]
    • Wounds and Injuries
      • Dislocations
        • 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]
      • Fractures, Bone
        • Fractures, Spontaneous
          • Bruck syndrome 2 (GDGDB) [PLOD2]
          • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
  • Psychiatry and Psychology
    • Behavior and Behavior Mechanisms
      • Emotions
        • Affect
          • Irritable Mood
            • ST3GAL5-CDG [SIAT9]
    • 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]