Legend:

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

• Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
  • Genetic Diseases, Inborn
    • Metabolism, Inborn Errors
      • Carbohydrate Metabolism, Inborn Errors (synthesis)
        • Hereditary disorders by systems
          • 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]
      • Lysosomal Storage Diseases (degradation)
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Diseases
              • Cardiovascular Diseases
                • Cardiovascular Abnormalities
                  • Heart Defects, Congenital
                    • Mucopolysaccharidosis II (GDGDB) [IDS]
                    • Pompe disease (GDGDB) [GAA]
                      • Pompe disease, infantile-onset form [GAA]
                • Heart Diseases
                  • Cardiomegaly
                    • Schindler disease
                    • Galactosialidosis (GDGDB) [CTSA]
                    • Mucopolysaccharidosis II (GDGDB) [IDS]
                    • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                    • Pompe disease (GDGDB) [GAA]
                      • Pompe disease, infantile-onset form [GAA]
                  • Heart Failure
                    • Mucopolysaccharidosis I
                    • Mucopolysaccharidosis II (GDGDB) [IDS]
                    • Mucopolysaccharidosis III
                    • Mucopolysaccharidosis IV
                    • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                    • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • Pompe disease (GDGDB) [GAA]
                      • Pompe disease, infantile-onset form [GAA]
                  • Heart Valve Diseases
                    • Galactosialidosis (GDGDB) [CTSA]
                    • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                    • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
                    • Hurler syndrome (GDGDB) [IDUA]
                    • Hurler-Scheie syndrome (GDGDB) [IDUA]
                    • Scheie syndrome (GDGDB) [IDUA]
                    • Mucopolysaccharidosis II (GDGDB) [IDS]
                    • Mucopolysaccharidosis III
                    • Morquio syndrome A (GDGDB) [GALNS]
                    • Morquio syndrome B (GDGDB) [GLB1]
                    • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                    • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • Gaucher disease, type IIIC (GDGDB) [GBA]
                  • Hurler syndrome (GDGDB) [IDUA]
                  • Hurler-Scheie syndrome (GDGDB) [IDUA]
                  • Scheie syndrome (GDGDB) [IDUA]
                  • Mucopolysaccharidosis II (GDGDB) [IDS]
                  • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                  • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                  • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                  • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                  • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                  • Gaucher disease, type IIIC (GDGDB) [GBA]
                  • Pompe disease (GDGDB) [GAA]
                  • Myocardial Ischemia
                    • Coronary Disease
                      • Coronary Artery Disease
                        • Hurler syndrome (GDGDB) [IDUA]
                        • Hurler-Scheie syndrome (GDGDB) [IDUA]
                        • Scheie syndrome (GDGDB) [IDUA]
                        • Mucopolysaccharidosis II (GDGDB) [IDS]
                        • Mucopolysaccharidosis III
                        • Mucopolysaccharidosis IV
                        • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                        • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                        • Niemann-Pick disease, type B (GDGDB) [SMPD1]
                      • Myocardial Infarction
                        • Fabry disease (GDGDB) [GLA]
                • Vascular Diseases
                  • Peripheral Vascular Diseases
                    • Mucopolysaccharidosis I
                    • Mucopolysaccharidosis II (GDGDB) [IDS]
                    • Mucopolysaccharidosis III
                    • Mucopolysaccharidosis IV
                    • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                    • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                  • Cerebrovascular Disorders
                    • Stroke
                      • Fabry disease (GDGDB) [GLA]
                  • Myocardial Ischemia
                    • Coronary Disease
                      • Coronary Artery Disease
                        • Hurler syndrome (GDGDB) [IDUA]
                        • Hurler-Scheie syndrome (GDGDB) [IDUA]
                        • Scheie syndrome (GDGDB) [IDUA]
                        • Mucopolysaccharidosis II (GDGDB) [IDS]
                        • Mucopolysaccharidosis III
                        • Mucopolysaccharidosis IV
                        • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                        • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                        • Niemann-Pick disease, type B (GDGDB) [SMPD1]
                      • Myocardial Infarction
                        • Fabry disease (GDGDB) [GLA]
              • Digestive System Diseases
                • Gastrointestinal Diseases
                  • Fabry disease (GDGDB) [GLA]
                • Liver Diseases
                  • Hepatomegaly
                    • Fucosidosis (GDGDB) [FUCA1]
                    • Alpha-mannosidosis (GDGDB) [MAN2B1]
                    • Sialidosis (GDGDB) [NEU1]
                    • Schindler disease
                    • Galactosialidosis (GDGDB) [CTSA]
                    • Hurler syndrome (GDGDB) [IDUA]
                    • Hurler-Scheie syndrome (GDGDB) [IDUA]
                    • Scheie syndrome (GDGDB) [IDUA]
                    • Mucopolysaccharidosis II (GDGDB) [IDS]
                    • Sanfilippo syndrome A (GDGDB) [SGSH]
                    • Sanfilippo syndrome B (GDGDB) [NAGLU]
                    • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                    • Sanfilippo syndrome D (GDGDB) [GNS]
                    • Morquio syndrome A (GDGDB) [GALNS]
                    • Morquio syndrome B (GDGDB) [GLB1]
                    • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                    • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                    • Sandhoff disease (GDGDB) [HEXB]
                    • Gaucher disease, type I (GDGDB) [GBA]
                    • Gaucher disease, type II (GDGDB) [GBA]
                    • Gaucher disease, type III (GDGDB) [GBA]
                    • Gaucher disease, type IIIC (GDGDB) [GBA]
                    • Gaucher disease, atypical, due to saposin C deficiency (GDGDB) [PSAP]
                    • Multiple sulfatase deficiency (GDGDB) [SUMF1]
                    • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                    • Niemann-Pick disease, type B (GDGDB) [SMPD1]
                    • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                    • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                    • Farber Lipogranulomatosis (GDGDB) [ASAH1]
                    • Combined saposin deficiency (GDGDB) [PSAP]
                    • Wolman disease (GDGDB) [LIPA]
                    • Pompe disease (GDGDB) [GAA]
                      • Pompe disease, infantile-onset form [GAA]
                  • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                  • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
              • Endocrine System Diseases
                • Adrenal Gland Diseases
                  • Wolman disease (GDGDB) [LIPA]
              • Eye Diseases
                • Corneal Diseases
                  • Corneal Opacity
                    • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
                    • Hurler syndrome (GDGDB) [IDUA]
                    • Hurler-Scheie syndrome (GDGDB) [IDUA]
                    • Scheie syndrome (GDGDB) [IDUA]
                    • Morquio syndrome A (GDGDB) [GALNS]
                    • Morquio syndrome B (GDGDB) [GLB1]
                    • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                    • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                    • Fabry disease (GDGDB) [GLA]
                    • Gaucher disease, type IIIC (GDGDB) [GBA]
                • Eye Abnormalities
                  • Gaucher disease, type IIIC (GDGDB) [GBA]
                • Lens Diseases
                  • Cataract
                    • Alpha-mannosidosis (GDGDB) [MAN2B1]
                • Ocular Hypertension
                  • Glaucoma
                    • Hurler syndrome (GDGDB) [IDUA]
                    • Hurler-Scheie syndrome (GDGDB) [IDUA]
                    • Scheie syndrome (GDGDB) [IDUA]
                • Retinal Diseases
                  • Retinal Degeneration
                    • Sialidosis (GDGDB) [NEU1]
                      • Sialidosis type I [NEU1]
                      • Sialidosis type II [NEU1]
                        • Sialidosis type II, infantile form [NEU1]
                        • Sialidosis type II, juvenile form [NEU1]
                    • Galactosialidosis (GDGDB) [CTSA]
                    • Hurler syndrome (GDGDB) [IDUA]
                    • Mucopolysaccharidosis II (GDGDB) [IDS]
                    • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                    • Tay-Sachs disease (GDGDB) [HEXA]
                    • Sandhoff disease (GDGDB) [HEXB]
                    • GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
                    • Krabbe disease (GDGDB) [GALC]
                    • Metachromatic leukodystrophy (GDGDB) [ARSA]
                    • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                    • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                    • Farber Lipogranulomatosis (GDGDB) [ASAH1]
                      • Farber Lipogranulomatosis, type 1 [ASAH1]
                      • Farber Lipogranulomatosis, type 5 [ASAH1]
                • Optic Nerve Diseases
                  • Optic Atrophy
                    • Optic Atrophies, Hereditary
                      • Combined saposin deficiency (GDGDB) [PSAP]
                • Ocular Motility Disorders
                  • Gaucher disease, type II (GDGDB) [GBA]
                  • Gaucher disease, type III (GDGDB) [GBA]
                  • Gaucher disease, type IIIC (GDGDB) [GBA]
                  • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                  • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
              • Female Urogenital Diseases and Pregnancy Complications
                • Female Urogenital Diseases
                  • Urologic Diseases
                    • Kidney Diseases
                      • Galactosialidosis (GDGDB) [CTSA]
                      • Fabry disease (GDGDB) [GLA]
                      • Renal Insufficiency
                        • Galactosialidosis (GDGDB) [CTSA]
                        • Fabry disease (GDGDB) [GLA]
              • Hemic and Lymphatic Diseases
                • Hematologic Diseases
                  • Anemia
                    • Gaucher disease, type I (GDGDB) [GBA]
                    • Gaucher disease, type II (GDGDB) [GBA]
                    • Gaucher disease, type III (GDGDB) [GBA]
                    • Wolman disease (GDGDB) [LIPA]
                  • Blood Platelet Disorders
                    • Thrombocytopenia
                      • Gaucher disease, type I (GDGDB) [GBA]
                      • Gaucher disease, type II (GDGDB) [GBA]
                      • Gaucher disease, type III (GDGDB) [GBA]
                      • Niemann-Pick disease, type B (GDGDB) [SMPD1]
                  • Hemorrhagic Disorders
                    • Gaucher disease, type I (GDGDB) [GBA]
                    • Gaucher disease, type II (GDGDB) [GBA]
                    • Gaucher disease, type III (GDGDB) [GBA]
                • Lymphatic Diseases
                  • Histiocytosis
                    • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                    • Niemann-Pick disease, type B (GDGDB) [SMPD1]
                    • Niemann-Pick disease, type C
                  • Splenic Diseases
                    • Fucosidosis (GDGDB) [FUCA1]
                    • Alpha-mannosidosis (GDGDB) [MAN2B1]
                    • Sialidosis (GDGDB) [NEU1]
                    • Schindler disease
                    • Galactosialidosis (GDGDB) [CTSA]
                    • Hurler syndrome (GDGDB) [IDUA]
                    • Hurler-Scheie syndrome (GDGDB) [IDUA]
                    • Scheie syndrome (GDGDB) [IDUA]
                    • Mucopolysaccharidosis II (GDGDB) [IDS]
                    • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                    • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                    • Tay-Sachs disease (GDGDB) [HEXA]
                      • Tay-Sachs disease, infantile form [HEXA]
                      • Tay-Sachs disease, late-onset forms [HEXA]
                    • Sandhoff disease (GDGDB) [HEXB]
                    • Gaucher disease, type I (GDGDB) [GBA]
                    • Gaucher disease, type II (GDGDB) [GBA]
                    • Gaucher disease, type III (GDGDB) [GBA]
                    • Gaucher disease, type IIIC (GDGDB) [GBA]
                    • Gaucher disease, atypical, due to saposin C deficiency (GDGDB) [PSAP]
                    • Multiple sulfatase deficiency (GDGDB) [SUMF1]
                    • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                    • Niemann-Pick disease, type B (GDGDB) [SMPD1]
                    • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                    • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                    • Farber Lipogranulomatosis (GDGDB) [ASAH1]
                    • Combined saposin deficiency (GDGDB) [PSAP]
                    • Wolman disease (GDGDB) [LIPA]
              • Male Urogenital Diseases
                • Urologic Diseases
                  • Kidney Diseases
                    • Galactosialidosis (GDGDB) [CTSA]
                    • Fabry disease (GDGDB) [GLA]
                    • Renal Insufficiency
                      • Galactosialidosis (GDGDB) [CTSA]
                      • Fabry disease (GDGDB) [GLA]
              • Musculoskeletal Diseases
                • Bone Diseases
                  • Bone Diseases, Developmental
                    • Dwarfism
                      • Sialidosis (GDGDB) [NEU1]
                      • Galactosialidosis (GDGDB) [CTSA]
                      • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
                      • Hurler syndrome (GDGDB) [IDUA]
                      • Hurler-Scheie syndrome (GDGDB) [IDUA]
                      • Scheie syndrome (GDGDB) [IDUA]
                      • Mucopolysaccharidosis II (GDGDB) [IDS]
                      • Sanfilippo syndrome A (GDGDB) [SGSH]
                      • Sanfilippo syndrome B (GDGDB) [NAGLU]
                      • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                      • Sanfilippo syndrome D (GDGDB) [GNS]
                      • Morquio syndrome A (GDGDB) [GALNS]
                      • Morquio syndrome B (GDGDB) [GLB1]
                      • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                      • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                      • Niemann-Pick disease, type B (GDGDB) [SMPD1]
                    • Dysostoses
                      • Aspartylglucosaminuria (GDGDB) [AGA]
                      • Fucosidosis (GDGDB) [FUCA1]
                      • Alpha-mannosidosis (GDGDB) [MAN2B1]
                      • Beta-mannosidosis (GDGDB) [MANBA]
                      • Sialidosis (GDGDB) [NEU1]
                      • Schindler disease
                      • Galactosialidosis (GDGDB) [CTSA]
                      • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                      • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
                      • Hurler syndrome (GDGDB) [IDUA]
                      • Hurler-Scheie syndrome (GDGDB) [IDUA]
                      • Scheie syndrome (GDGDB) [IDUA]
                      • Mucopolysaccharidosis II (GDGDB) [IDS]
                      • Sanfilippo syndrome A (GDGDB) [SGSH]
                      • Sanfilippo syndrome B (GDGDB) [NAGLU]
                      • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                      • Sanfilippo syndrome D (GDGDB) [GNS]
                      • Morquio syndrome A (GDGDB) [GALNS]
                      • Morquio syndrome B (GDGDB) [GLB1]
                      • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                      • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                      • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                      • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                      • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                      • Sandhoff disease (GDGDB) [HEXB]
                  • Bone Diseases, Metabolic
                    • Mucolipidoses
                      • Sialidosis (GDGDB) [NEU1]
                      • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                      • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
                    • Osteoporosis
                      • Aspartylglucosaminuria (GDGDB) [AGA]
                      • Alpha-mannosidosis (GDGDB) [MAN2B1]
                      • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
                      • Gaucher disease, type I (GDGDB) [GBA]
                      • Gaucher disease, type III (GDGDB) [GBA]
                      • Gaucher disease, type IIIC (GDGDB) [GBA]
                  • Spinal Diseases
                    • Spinal Curvatures
                      • Kyphosis
                        • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                        • Multiple sulfatase deficiency (GDGDB) [SUMF1]
                    • Spinal Stenosis
                      • Hurler syndrome (GDGDB) [IDUA]
                      • Hurler-Scheie syndrome (GDGDB) [IDUA]
                      • Scheie syndrome (GDGDB) [IDUA]
                      • Mucopolysaccharidosis II (GDGDB) [IDS]
                      • Morquio syndrome A (GDGDB) [GALNS]
                      • Morquio syndrome B (GDGDB) [GLB1]
                      • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                      • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • Aspartylglucosaminuria (GDGDB) [AGA]
                    • Alpha-mannosidosis (GDGDB) [MAN2B1]
                    • Galactosialidosis (GDGDB) [CTSA]
                    • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                • Joint Diseases
                  • Arthritis
                    • Gaucher disease, type I (GDGDB) [GBA]
                    • Gaucher disease, type III (GDGDB) [GBA]
                    • Gaucher disease, type IIIC (GDGDB) [GBA]
                    • Farber Lipogranulomatosis (GDGDB) [ASAH1]
                  • Contracture
                    • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                    • Hurler syndrome (GDGDB) [IDUA]
                    • Hurler-Scheie syndrome (GDGDB) [IDUA]
                    • Scheie syndrome (GDGDB) [IDUA]
                    • Mucopolysaccharidosis II (GDGDB) [IDS]
                    • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                    • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • Farber Lipogranulomatosis (GDGDB) [ASAH1]
                  • Aspartylglucosaminuria (GDGDB) [AGA]
                  • Alpha-mannosidosis (GDGDB) [MAN2B1]
                  • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
                  • Sanfilippo syndrome A (GDGDB) [SGSH]
                  • Sanfilippo syndrome B (GDGDB) [NAGLU]
                  • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                  • Sanfilippo syndrome D (GDGDB) [GNS]
                  • Morquio syndrome A (GDGDB) [GALNS]
                  • Morquio syndrome B (GDGDB) [GLB1]
                • Musculoskeletal Abnormalities
                  • Craniofacial Abnormalities
                    • Macrocephaly
                      • Hurler syndrome (GDGDB) [IDUA]
                      • Hurler-Scheie syndrome (GDGDB) [IDUA]
                      • Scheie syndrome (GDGDB) [IDUA]
                      • Mucopolysaccharidosis II (GDGDB) [IDS]
                      • Sanfilippo syndrome A (GDGDB) [SGSH]
                      • Sanfilippo syndrome B (GDGDB) [NAGLU]
                      • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                      • Sanfilippo syndrome D (GDGDB) [GNS]
                      • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                      • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • Maxillofacial Abnormalities
                      • Aspartylglucosaminuria (GDGDB) [AGA]
                      • Fucosidosis (GDGDB) [FUCA1]
                      • Alpha-mannosidosis (GDGDB) [MAN2B1]
                      • Beta-mannosidosis (GDGDB) [MANBA]
                      • Sialidosis (GDGDB) [NEU1]
                      • Galactosialidosis (GDGDB) [CTSA]
                      • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                      • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
                      • Hurler syndrome (GDGDB) [IDUA]
                      • Hurler-Scheie syndrome (GDGDB) [IDUA]
                      • Scheie syndrome (GDGDB) [IDUA]
                      • Sanfilippo syndrome A (GDGDB) [SGSH]
                      • Sanfilippo syndrome B (GDGDB) [NAGLU]
                      • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                      • Sanfilippo syndrome D (GDGDB) [GNS]
                      • Morquio syndrome A (GDGDB) [GALNS]
                      • Morquio syndrome B (GDGDB) [GLB1]
                      • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                      • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                      • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                      • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                      • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                      • Gaucher disease, type II (GDGDB) [GBA]
                        • Gaucher disease, type II, perinatal lethal form [GBA]
                      • Multiple sulfatase deficiency (GDGDB) [SUMF1]
                    • Microcephaly
                      • Aspartylglucosaminuria (GDGDB) [AGA]
                  • Hip Dislocation, Congenital
                    • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                  • Limb Deformities, Congenital
                    • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                  • Alpha-mannosidosis (GDGDB) [MAN2B1]
                  • Morquio syndrome A (GDGDB) [GALNS]
                  • Morquio syndrome B (GDGDB) [GLB1]
                  • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                  • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                  • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                  • Sandhoff disease (GDGDB) [HEXB]
                  • Gaucher disease, type I (GDGDB) [GBA]
                  • Gaucher disease, type III (GDGDB) [GBA]
                  • Gaucher disease, type IIIC (GDGDB) [GBA]
                  • Multiple sulfatase deficiency (GDGDB) [SUMF1]
                • Muscular Diseases
                  • Muscle Rigidity
                    • Krabbe disease (GDGDB) [GALC]
                      • Krabbe disease, infantile form [GALC]
                      • Krabbe disease, late-onset form [GALC]
                    • Metachromatic leukodystrophy (GDGDB) [ARSA]
                    • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                  • Muscle Spasticity
                    • Fucosidosis (GDGDB) [FUCA1]
                    • Tay-Sachs disease (GDGDB) [HEXA]
                    • Metachromatic leukodystrophy (GDGDB) [ARSA]
                    • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                    • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                  • Muscle Weakness
                    • Alpha-mannosidosis (GDGDB) [MAN2B1]
                    • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                    • Tay-Sachs disease (GDGDB) [HEXA]
                    • Sandhoff disease (GDGDB) [HEXB]
                    • GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
                    • Krabbe disease (GDGDB) [GALC]
                      • Krabbe disease, infantile form [GALC]
                      • Krabbe disease, late-onset form [GALC]
                    • Metachromatic leukodystrophy (GDGDB) [ARSA]
                    • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                    • Pompe disease (GDGDB) [GAA]
              • Neoplasms
                • Neoplasms by Histologic Type
                  • Neoplasms, Vascular Tissue
                    • Angiokeratoma
                      • Fucosidosis (GDGDB) [FUCA1]
                      • Beta-mannosidosis (GDGDB) [MANBA]
                      • Sialidosis (GDGDB) [NEU1]
                      • Schindler disease, type II (GDGDB) [NAGA]
                      • Galactosialidosis (GDGDB) [CTSA]
                      • Fabry disease (GDGDB) [GLA]
              • Nervous System Diseases
                • Central Nervous System Diseases
                  • Brain Diseases
                    • Brain Diseases, Metabolic
                      • Brain Diseases, Metabolic, Inborn
                        • Aspartylglucosaminuria (GDGDB) [AGA]
                        • Fucosidosis (GDGDB) [FUCA1]
                        • Sialidosis (GDGDB) [NEU1]
                        • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                        • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
                        • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                        • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                        • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                        • Tay-Sachs disease (GDGDB) [HEXA]
                        • Sandhoff disease (GDGDB) [HEXB]
                        • GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
                        • Fabry disease (GDGDB) [GLA]
                        • Gaucher disease, type II (GDGDB) [GBA]
                        • Gaucher disease, type III (GDGDB) [GBA]
                        • Gaucher disease, atypical, due to saposin C deficiency (GDGDB) [PSAP]
                        • Krabbe disease (GDGDB) [GALC]
                        • Multiple sulfatase deficiency (GDGDB) [SUMF1]
                        • Metachromatic leukodystrophy (GDGDB) [ARSA]
                        • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                        • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                        • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                        • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                        • Farber Lipogranulomatosis (GDGDB) [ASAH1]
                    • Dementia
                      • Gaucher disease, type II (GDGDB) [GBA]
                      • Gaucher disease, type III (GDGDB) [GBA]
                      • Metachromatic leukodystrophy (GDGDB) [ARSA]
                      • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                      • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                      • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                    • Intracranial Hypertension
                      • Hydrocephalus
                        • Alpha-mannosidosis (GDGDB) [MAN2B1]
                        • Hurler syndrome (GDGDB) [IDUA]
                        • Hurler-Scheie syndrome (GDGDB) [IDUA]
                        • Scheie syndrome (GDGDB) [IDUA]
                        • Mucopolysaccharidosis II (GDGDB) [IDS]
                        • Sanfilippo syndrome A (GDGDB) [SGSH]
                        • Sanfilippo syndrome B (GDGDB) [NAGLU]
                        • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                        • Sanfilippo syndrome D (GDGDB) [GNS]
                        • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                        • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • Cerebrovascular Disorders
                      • Stroke
                        • Fabry disease (GDGDB) [GLA]
                  • Movement Disorders
                    • Dyskinesias
                      • Aspartylglucosaminuria (GDGDB) [AGA]
                      • Fucosidosis (GDGDB) [FUCA1]
                      • Sialidosis (GDGDB) [NEU1]
                      • Sanfilippo syndrome A (GDGDB) [SGSH]
                      • Sanfilippo syndrome B (GDGDB) [NAGLU]
                      • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                      • Sanfilippo syndrome D (GDGDB) [GNS]
                      • Tay-Sachs disease (GDGDB) [HEXA]
                      • Sandhoff disease (GDGDB) [HEXB]
                      • Gaucher disease, type II (GDGDB) [GBA]
                      • Krabbe disease (GDGDB) [GALC]
                      • Metachromatic leukodystrophy (GDGDB) [ARSA]
                      • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                      • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                      • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                      • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                      • Combined saposin deficiency (GDGDB) [PSAP]
                  • Spinal Cord Diseases
                    • Spinal Cord Compression
                      • Hurler syndrome (GDGDB) [IDUA]
                      • Hurler-Scheie syndrome (GDGDB) [IDUA]
                      • Scheie syndrome (GDGDB) [IDUA]
                      • Mucopolysaccharidosis II (GDGDB) [IDS]
                      • Morquio syndrome A (GDGDB) [GALNS]
                      • Morquio syndrome B (GDGDB) [GLB1]
                      • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                      • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                  • Ocular Motility Disorders
                    • Gaucher disease, type II (GDGDB) [GBA]
                    • Gaucher disease, type III (GDGDB) [GBA]
                    • Gaucher disease, type IIIC (GDGDB) [GBA]
                    • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                    • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                    • Combined saposin deficiency (GDGDB) [PSAP]
                • Demyelinating Diseases
                  • Hereditary Central Nervous System Demyelinating Diseases
                    • Fucosidosis (GDGDB) [FUCA1]
                    • Hurler-Scheie syndrome (GDGDB) [IDUA]
                    • Mucopolysaccharidosis II (GDGDB) [IDS]
                    • Sanfilippo syndrome A (GDGDB) [SGSH]
                    • Sanfilippo syndrome B (GDGDB) [NAGLU]
                    • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                    • Sanfilippo syndrome D (GDGDB) [GNS]
                    • Morquio syndrome A (GDGDB) [GALNS]
                    • Morquio syndrome B (GDGDB) [GLB1]
                    • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                    • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                    • Tay-Sachs disease (GDGDB) [HEXA]
                      • Tay-Sachs disease, infantile form [HEXA]
                    • Sandhoff disease (GDGDB) [HEXB]
                      • Sandhoff disease, infantile form [HEXB]
                    • Krabbe disease (GDGDB) [GALC]
                    • Metachromatic leukodystrophy (GDGDB) [ARSA]
                    • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                    • Combined saposin deficiency (GDGDB) [PSAP]
                • Nervous System Malformations
                  • Malformations of Cortical Development
                    • Combined saposin deficiency (GDGDB) [PSAP]
                    • Macrocephaly
                      • Hurler syndrome (GDGDB) [IDUA]
                      • Hurler-Scheie syndrome (GDGDB) [IDUA]
                      • Scheie syndrome (GDGDB) [IDUA]
                      • Mucopolysaccharidosis II (GDGDB) [IDS]
                      • Sanfilippo syndrome A (GDGDB) [SGSH]
                      • Sanfilippo syndrome B (GDGDB) [NAGLU]
                      • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                      • Sanfilippo syndrome D (GDGDB) [GNS]
                      • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                      • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • Microcephaly
                      • Aspartylglucosaminuria (GDGDB) [AGA]
                • Neurodegenerative Diseases
                  • Heredodegenerative Disorders, Nervous System
                    • Schindler disease, type I (GDGDB) [NAGA]
                    • Schindler disease, type II (GDGDB) [NAGA]
                    • Combined saposin deficiency (GDGDB) [PSAP]
                • Neuromuscular Diseases
                  • Peripheral Nervous System Diseases
                    • Mononeuropathies
                      • Median Neuropathy
                        • Carpal Tunnel Syndrome
                          • Hurler syndrome (GDGDB) [IDUA]
                          • Hurler-Scheie syndrome (GDGDB) [IDUA]
                          • Scheie syndrome (GDGDB) [IDUA]
                          • Mucopolysaccharidosis II (GDGDB) [IDS]
                          • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                          • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • Nerve Compression Syndromes
                      • Carpal Tunnel Syndrome
                        • Hurler syndrome (GDGDB) [IDUA]
                        • Hurler-Scheie syndrome (GDGDB) [IDUA]
                        • Scheie syndrome (GDGDB) [IDUA]
                        • Mucopolysaccharidosis II (GDGDB) [IDS]
                        • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                        • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • Beta-mannosidosis (GDGDB) [MANBA]
                    • Tay-Sachs disease (GDGDB) [HEXA]
                    • Fabry disease (GDGDB) [GLA]
                    • Krabbe disease (GDGDB) [GALC]
                    • Metachromatic leukodystrophy (GDGDB) [ARSA]
                    • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                • Cranial Nerve Diseases
                • Neurologic Manifestations
                  • Dyskinesias
                    • Ataxia
                      • Aspartylglucosaminuria (GDGDB) [AGA]
                      • Alpha-mannosidosis (GDGDB) [MAN2B1]
                      • Sialidosis (GDGDB) [NEU1]
                      • Galactosialidosis (GDGDB) [CTSA]
                      • Tay-Sachs disease (GDGDB) [HEXA]
                      • Sandhoff disease (GDGDB) [HEXB]
                      • Metachromatic leukodystrophy (GDGDB) [ARSA]
                      • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                      • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                      • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                      • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                    • Dystonia
                      • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                      • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                      • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                      • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                      • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                      • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                    • Myoclonus
                      • Sialidosis (GDGDB) [NEU1]
                      • Galactosialidosis (GDGDB) [CTSA]
                      • Farber Lipogranulomatosis (GDGDB) [ASAH1]
                        • Farber Lipogranulomatosis, type 5 [ASAH1]
                      • Combined saposin deficiency (GDGDB) [PSAP]
                    • Tremor
                      • Sialidosis (GDGDB) [NEU1]
                      • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                      • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                    • Hyperkinesis
                      • Combined saposin deficiency (GDGDB) [PSAP]
                  • Gait Disorders, Neurologic
                    • Sialidosis (GDGDB) [NEU1]
                    • Metachromatic leukodystrophy (GDGDB) [ARSA]
                    • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                  • Neurobehavioral Manifestations
                    • Communication Disorders
                      • Language Disorders
                        • Speech Disorders
                          • Aspartylglucosaminuria (GDGDB) [AGA]
                          • Alpha-mannosidosis (GDGDB) [MAN2B1]
                          • Beta-mannosidosis (GDGDB) [MANBA]
                          • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                          • Sanfilippo syndrome A (GDGDB) [SGSH]
                          • Sanfilippo syndrome B (GDGDB) [NAGLU]
                          • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                          • Sanfilippo syndrome D (GDGDB) [GNS]
                          • Tay-Sachs disease (GDGDB) [HEXA]
                          • Sandhoff disease (GDGDB) [HEXB]
                          • Multiple sulfatase deficiency (GDGDB) [SUMF1]
                          • Metachromatic leukodystrophy (GDGDB) [ARSA]
                          • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                          • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                          • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                          • Farber Lipogranulomatosis (GDGDB) [ASAH1]
                            • Farber Lipogranulomatosis, type 5 [ASAH1]
                      • Learning Disorders
                        • Aspartylglucosaminuria (GDGDB) [AGA]
                        • Alpha-mannosidosis (GDGDB) [MAN2B1]
                        • Schindler disease, type I (GDGDB) [NAGA]
                        • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
                        • Hurler syndrome (GDGDB) [IDUA]
                        • Hurler-Scheie syndrome (GDGDB) [IDUA]
                        • Sanfilippo syndrome A (GDGDB) [SGSH]
                        • Sanfilippo syndrome B (GDGDB) [NAGLU]
                        • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                        • Sanfilippo syndrome D (GDGDB) [GNS]
                        • Metachromatic leukodystrophy (GDGDB) [ARSA]
                        • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                        • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                        • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                        • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                    • Intellectual Disability
                      • Aspartylglucosaminuria (GDGDB) [AGA]
                      • Fucosidosis (GDGDB) [FUCA1]
                      • Alpha-mannosidosis (GDGDB) [MAN2B1]
                      • Beta-mannosidosis (GDGDB) [MANBA]
                      • Sialidosis (GDGDB) [NEU1]
                        • Sialidosis type II [NEU1]
                      • Schindler disease, type I (GDGDB) [NAGA]
                      • Schindler disease, type II (GDGDB) [NAGA]
                      • Galactosialidosis (GDGDB) [CTSA]
                      • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
                      • Hurler syndrome (GDGDB) [IDUA]
                      • Hurler-Scheie syndrome (GDGDB) [IDUA]
                      • Sanfilippo syndrome A (GDGDB) [SGSH]
                      • Sanfilippo syndrome B (GDGDB) [NAGLU]
                      • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                      • Sanfilippo syndrome D (GDGDB) [GNS]
                      • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                      • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                      • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                      • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                      • Tay-Sachs disease (GDGDB) [HEXA]
                      • Sandhoff disease (GDGDB) [HEXB]
                      • Fabry disease (GDGDB) [GLA]
                      • Gaucher disease, type II (GDGDB) [GBA]
                      • Gaucher disease, type III (GDGDB) [GBA]
                      • Gaucher disease, atypical, due to saposin C deficiency (GDGDB) [PSAP]
                      • Krabbe disease (GDGDB) [GALC]
                      • Metachromatic leukodystrophy (GDGDB) [ARSA]
                      • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                      • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                      • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                      • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                      • Farber Lipogranulomatosis (GDGDB) [ASAH1]
                      • Mental Retardation, X-Linked
                        • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                    • Perceptual Disorders
                      • Hallucinations
                        • Alpha-mannosidosis (GDGDB) [MAN2B1]
                        • Metachromatic leukodystrophy (GDGDB) [ARSA]
                          • Metachromatic leukodystrophy, adult form [ARSA]
                  • Neuromuscular Manifestations
                    • Fasciculation
                      • Gaucher disease, type II (GDGDB) [GBA]
                      • Combined saposin deficiency (GDGDB) [PSAP]
                    • Muscle Hypertonia
                      • Muscle Rigidity
                        • Krabbe disease (GDGDB) [GALC]
                          • Krabbe disease, infantile form [GALC]
                          • Krabbe disease, late-onset form [GALC]
                        • Metachromatic leukodystrophy (GDGDB) [ARSA]
                        • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                      • Muscle Spasticity
                        • Fucosidosis (GDGDB) [FUCA1]
                        • Tay-Sachs disease (GDGDB) [HEXA]
                        • Metachromatic leukodystrophy (GDGDB) [ARSA]
                        • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                        • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                    • Muscle Hypotonia
                      • Beta-mannosidosis (GDGDB) [MANBA]
                      • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                      • Combined saposin deficiency (GDGDB) [PSAP]
                      • Wolman disease (GDGDB) [LIPA]
                      • Pompe disease (GDGDB) [GAA]
                    • Muscle Weakness
                      • Alpha-mannosidosis (GDGDB) [MAN2B1]
                      • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                      • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                      • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                      • Tay-Sachs disease (GDGDB) [HEXA]
                      • Sandhoff disease (GDGDB) [HEXB]
                      • GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
                      • Krabbe disease (GDGDB) [GALC]
                        • Krabbe disease, infantile form [GALC]
                        • Krabbe disease, late-onset form [GALC]
                      • Metachromatic leukodystrophy (GDGDB) [ARSA]
                      • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                      • Pompe disease (GDGDB) [GAA]
                    • Muscular Atrophy
                      • Metachromatic leukodystrophy (GDGDB) [ARSA]
                      • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                  • Pain
                    • Musculoskeletal Pain
                      • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
                      • Hurler syndrome (GDGDB) [IDUA]
                      • Hurler-Scheie syndrome (GDGDB) [IDUA]
                      • Scheie syndrome (GDGDB) [IDUA]
                      • Fabry disease (GDGDB) [GLA]
                      • Gaucher disease, type I (GDGDB) [GBA]
                      • Gaucher disease, type III (GDGDB) [GBA]
                      • Gaucher disease, type IIIC (GDGDB) [GBA]
                      • Farber Lipogranulomatosis (GDGDB) [ASAH1]
                  • Paralysis
                    • Morquio syndrome A (GDGDB) [GALNS]
                    • Morquio syndrome B (GDGDB) [GLB1]
                    • Tay-Sachs disease (GDGDB) [HEXA]
                    • Sandhoff disease (GDGDB) [HEXB]
                    • GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
                    • Metachromatic leukodystrophy (GDGDB) [ARSA]
                    • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                    • Farber Lipogranulomatosis (GDGDB) [ASAH1]
                      • Farber Lipogranulomatosis, type 5 [ASAH1]
                    • Facial Paralysis
                      • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                      • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                  • Paresis
                    • Paraparesis
                      • Paraparesis, Spastic
                        • Metachromatic leukodystrophy (GDGDB) [ARSA]
                        • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                        • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                  • Seizures
                    • Aspartylglucosaminuria (GDGDB) [AGA]
                    • Fucosidosis (GDGDB) [FUCA1]
                    • Beta-mannosidosis (GDGDB) [MANBA]
                    • Sialidosis (GDGDB) [NEU1]
                    • Schindler disease, type I (GDGDB) [NAGA]
                    • Galactosialidosis (GDGDB) [CTSA]
                    • Sanfilippo syndrome A (GDGDB) [SGSH]
                    • Sanfilippo syndrome B (GDGDB) [NAGLU]
                    • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                    • Sanfilippo syndrome D (GDGDB) [GNS]
                    • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                    • Tay-Sachs disease (GDGDB) [HEXA]
                    • Sandhoff disease (GDGDB) [HEXB]
                    • GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
                    • Gaucher disease, type II (GDGDB) [GBA]
                    • Gaucher disease, type III (GDGDB) [GBA]
                    • Krabbe disease (GDGDB) [GALC]
                      • Krabbe disease, infantile form [GALC]
                      • Krabbe disease, late-onset form [GALC]
                    • Metachromatic leukodystrophy (GDGDB) [ARSA]
                    • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                    • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                    • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                    • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                    • Farber Lipogranulomatosis (GDGDB) [ASAH1]
                      • Farber Lipogranulomatosis, type 5 [ASAH1]
                    • Combined saposin deficiency (GDGDB) [PSAP]
                  • Sensation Disorders
                    • Hearing Disorders
                      • Hearing Loss
                        • Alpha-mannosidosis (GDGDB) [MAN2B1]
                        • Beta-mannosidosis (GDGDB) [MANBA]
                        • Sialidosis (GDGDB) [NEU1]
                        • Schindler disease, type II (GDGDB) [NAGA]
                        • Galactosialidosis (GDGDB) [CTSA]
                        • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                        • Hurler syndrome (GDGDB) [IDUA]
                        • Hurler-Scheie syndrome (GDGDB) [IDUA]
                        • Scheie syndrome (GDGDB) [IDUA]
                        • Mucopolysaccharidosis II (GDGDB) [IDS]
                        • Sanfilippo syndrome A (GDGDB) [SGSH]
                        • Sanfilippo syndrome B (GDGDB) [NAGLU]
                        • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                        • Sanfilippo syndrome D (GDGDB) [GNS]
                        • Morquio syndrome A (GDGDB) [GALNS]
                        • Morquio syndrome B (GDGDB) [GLB1]
                        • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                        • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                        • Tay-Sachs disease (GDGDB) [HEXA]
                        • Sandhoff disease (GDGDB) [HEXB]
                        • GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
                        • Fabry disease (GDGDB) [GLA]
                        • Krabbe disease (GDGDB) [GALC]
                          • Krabbe disease, infantile form [GALC]
                          • Krabbe disease, late-onset form [GALC]
                        • Multiple sulfatase deficiency (GDGDB) [SUMF1]
                        • Metachromatic leukodystrophy (GDGDB) [ARSA]
                        • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                      • Tinnitus
                        • Fabry disease (GDGDB) [GLA]
                    • Somatosensory Disorders
                      • Hypesthesia
                        • Beta-mannosidosis (GDGDB) [MANBA]
                        • Schindler disease, type II (GDGDB) [NAGA]
                        • Metachromatic leukodystrophy (GDGDB) [ARSA]
                        • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                      • Paresthesia
                        • Fabry disease (GDGDB) [GLA]
                    • Vision Disorders
                      • Blindness
                        • Schindler disease, type I (GDGDB) [NAGA]
                        • Galactosialidosis (GDGDB) [CTSA]
                        • Hurler syndrome (GDGDB) [IDUA]
                        • Hurler-Scheie syndrome (GDGDB) [IDUA]
                        • Scheie syndrome (GDGDB) [IDUA]
                        • Morquio syndrome A (GDGDB) [GALNS]
                        • Morquio syndrome B (GDGDB) [GLB1]
                        • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                        • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                        • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                        • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                        • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                        • Tay-Sachs disease (GDGDB) [HEXA]
                        • Sandhoff disease (GDGDB) [HEXB]
                        • GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
                        • Krabbe disease (GDGDB) [GALC]
                        • Metachromatic leukodystrophy (GDGDB) [ARSA]
                        • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                      • Vision, Low
                        • Sialidosis (GDGDB) [NEU1]
                        • Mucopolysaccharidosis II (GDGDB) [IDS]
                        • Sanfilippo syndrome A (GDGDB) [SGSH]
                        • Sanfilippo syndrome B (GDGDB) [NAGLU]
                        • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                        • Sanfilippo syndrome D (GDGDB) [GNS]
                        • Gaucher disease, type IIIC (GDGDB) [GBA]
                • Sleep Disorders
                  • Sanfilippo syndrome A (GDGDB) [SGSH]
                  • Sanfilippo syndrome B (GDGDB) [NAGLU]
                  • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                  • Sanfilippo syndrome D (GDGDB) [GNS]
                  • Niemann-Pick disease, type A (GDGDB) [SMPD1]
              • Otorhinolaryngologic Diseases
                • Ear Diseases
                  • Labyrinth Diseases
                    • Schindler disease, type II (GDGDB) [NAGA]
                  • Otitis
                    • Alpha-mannosidosis (GDGDB) [MAN2B1]
                    • Beta-mannosidosis (GDGDB) [MANBA]
                    • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                    • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
                    • Hurler syndrome (GDGDB) [IDUA]
                    • Hurler-Scheie syndrome (GDGDB) [IDUA]
                    • Scheie syndrome (GDGDB) [IDUA]
                    • Mucopolysaccharidosis II (GDGDB) [IDS]
                    • Sanfilippo syndrome A (GDGDB) [SGSH]
                    • Sanfilippo syndrome B (GDGDB) [NAGLU]
                    • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                    • Sanfilippo syndrome D (GDGDB) [GNS]
                    • Morquio syndrome A (GDGDB) [GALNS]
                    • Morquio syndrome B (GDGDB) [GLB1]
                    • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                    • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                  • Hearing Disorders
                    • Hearing Loss
                      • Alpha-mannosidosis (GDGDB) [MAN2B1]
                      • Beta-mannosidosis (GDGDB) [MANBA]
                      • Sialidosis (GDGDB) [NEU1]
                      • Schindler disease, type II (GDGDB) [NAGA]
                      • Galactosialidosis (GDGDB) [CTSA]
                      • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                      • Hurler syndrome (GDGDB) [IDUA]
                      • Hurler-Scheie syndrome (GDGDB) [IDUA]
                      • Scheie syndrome (GDGDB) [IDUA]
                      • Mucopolysaccharidosis II (GDGDB) [IDS]
                      • Sanfilippo syndrome A (GDGDB) [SGSH]
                      • Sanfilippo syndrome B (GDGDB) [NAGLU]
                      • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                      • Sanfilippo syndrome D (GDGDB) [GNS]
                      • Morquio syndrome A (GDGDB) [GALNS]
                      • Morquio syndrome B (GDGDB) [GLB1]
                      • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                      • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                      • Tay-Sachs disease (GDGDB) [HEXA]
                      • Sandhoff disease (GDGDB) [HEXB]
                      • GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
                      • Fabry disease (GDGDB) [GLA]
                      • Krabbe disease (GDGDB) [GALC]
                        • Krabbe disease, infantile form [GALC]
                      • Multiple sulfatase deficiency (GDGDB) [SUMF1]
                      • Metachromatic leukodystrophy (GDGDB) [ARSA]
                      • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                    • Tinnitus
                • Pharyngeal Diseases
                  • Deglutition Disorders
                    • Beta-mannosidosis (GDGDB) [MANBA]
                    • Gaucher disease, type II (GDGDB) [GBA]
                    • Krabbe disease (GDGDB) [GALC]
                    • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                    • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
              • Pathological Conditions, Signs and Symptoms
                • Pathologic Processes
                  • Growth Disorders
                    • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                    • Niemann-Pick disease, type B (GDGDB) [SMPD1]
                    • Wolman disease (GDGDB) [LIPA]
                    • Pompe disease (GDGDB) [GAA]
                      • Pompe disease, infantile-onset form [GAA]
                  • Hyperbilirubinemia
                    • Jaundice
                      • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                      • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                      • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                      • Wolman disease (GDGDB) [LIPA]
                • Pathological Conditions, Anatomical
                  • Hernia
                    • Hernia, Abdominal
                      • Hernia, Inguinal
                        • Galactosialidosis (GDGDB) [CTSA]
                        • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                        • Hurler syndrome (GDGDB) [IDUA]
                        • Hurler-Scheie syndrome (GDGDB) [IDUA]
                        • Scheie syndrome (GDGDB) [IDUA]
                        • Mucopolysaccharidosis II (GDGDB) [IDS]
                        • Sanfilippo syndrome A (GDGDB) [SGSH]
                        • Sanfilippo syndrome B (GDGDB) [NAGLU]
                        • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                        • Sanfilippo syndrome D (GDGDB) [GNS]
                        • Morquio syndrome A (GDGDB) [GALNS]
                        • Morquio syndrome B (GDGDB) [GLB1]
                        • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                        • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                      • Hernia, Ventral
                        • Hernia, Umbilical
                          • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                          • Hurler syndrome (GDGDB) [IDUA]
                          • Hurler-Scheie syndrome (GDGDB) [IDUA]
                          • Scheie syndrome (GDGDB) [IDUA]
                          • Mucopolysaccharidosis II (GDGDB) [IDS]
                          • Sanfilippo syndrome A (GDGDB) [SGSH]
                          • Sanfilippo syndrome B (GDGDB) [NAGLU]
                          • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                          • Sanfilippo syndrome D (GDGDB) [GNS]
                          • Morquio syndrome A (GDGDB) [GALNS]
                          • Morquio syndrome B (GDGDB) [GLB1]
                          • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                          • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                • Signs and Symptoms
                  • Body Temperature Changes
                    • Fever
                      • Krabbe disease (GDGDB) [GALC]
                        • Krabbe disease, infantile form [GALC]
                  • Edema
                    • Hydrops Fetalis
                      • Sialidosis (GDGDB) [NEU1]
                      • Galactosialidosis (GDGDB) [CTSA]
                      • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                      • Gaucher disease, type II (GDGDB) [GBA]
                        • Gaucher disease, type II, perinatal lethal form [GBA]
                  • Mobility Limitation
                    • Aspartylglucosaminuria (GDGDB) [AGA]
                    • Fucosidosis (GDGDB) [FUCA1]
                    • Alpha-mannosidosis (GDGDB) [MAN2B1]
                    • Sialidosis (GDGDB) [NEU1]
                    • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                    • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
                    • Hurler syndrome (GDGDB) [IDUA]
                    • Hurler-Scheie syndrome (GDGDB) [IDUA]
                    • Scheie syndrome (GDGDB) [IDUA]
                    • Mucopolysaccharidosis II (GDGDB) [IDS]
                    • Sanfilippo syndrome A (GDGDB) [SGSH]
                    • Sanfilippo syndrome B (GDGDB) [NAGLU]
                    • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                    • Sanfilippo syndrome D (GDGDB) [GNS]
                    • Morquio syndrome A (GDGDB) [GALNS]
                    • Morquio syndrome B (GDGDB) [GLB1]
                    • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                    • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • Tay-Sachs disease (GDGDB) [HEXA]
                    • Sandhoff disease (GDGDB) [HEXB]
                    • GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
                    • Krabbe disease (GDGDB) [GALC]
                    • Multiple sulfatase deficiency (GDGDB) [SUMF1]
                    • Metachromatic leukodystrophy (GDGDB) [ARSA]
                    • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                    • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                    • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                    • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                    • Farber Lipogranulomatosis (GDGDB) [ASAH1]
                      • Farber Lipogranulomatosis, type 5 [ASAH1]
                    • Pompe disease (GDGDB) [GAA]
                  • Signs and Symptoms, Digestive
                    • Constipation
                      • Hurler syndrome (GDGDB) [IDUA]
                      • Hurler-Scheie syndrome (GDGDB) [IDUA]
                      • Scheie syndrome (GDGDB) [IDUA]
                    • Diarrhea
                      • Aspartylglucosaminuria (GDGDB) [AGA]
                      • Hurler syndrome (GDGDB) [IDUA]
                      • Hurler-Scheie syndrome (GDGDB) [IDUA]
                      • Scheie syndrome (GDGDB) [IDUA]
                      • Sanfilippo syndrome A (GDGDB) [SGSH]
                      • Sanfilippo syndrome B (GDGDB) [NAGLU]
                      • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                      • Sanfilippo syndrome D (GDGDB) [GNS]
                      • Wolman disease (GDGDB) [LIPA]
                    • Vomiting
                      • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                      • Wolman disease (GDGDB) [LIPA]
                  • Urological Manifestations
                    • Lower Urinary Tract Symptoms
                      • Urinary Incontinence
                        • Metachromatic leukodystrophy (GDGDB) [ARSA]
                        • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                  • Neurologic Manifestations
                    • Sleep Disorders
                      • Sanfilippo syndrome A (GDGDB) [SGSH]
                      • Sanfilippo syndrome B (GDGDB) [NAGLU]
                      • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                      • Sanfilippo syndrome D (GDGDB) [GNS]
                      • Niemann-Pick disease, type A (GDGDB) [SMPD1]
              • Respiratory Tract Diseases
                • Lung Diseases
                  • Hurler syndrome (GDGDB) [IDUA]
                  • Hurler-Scheie syndrome (GDGDB) [IDUA]
                  • Scheie syndrome (GDGDB) [IDUA]
                  • Gaucher disease, type I (GDGDB) [GBA]
                  • Gaucher disease, type II (GDGDB) [GBA]
                  • Gaucher disease, type III (GDGDB) [GBA]
                  • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                  • Niemann-Pick disease, type B (GDGDB) [SMPD1]
                  • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                  • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                  • Farber Lipogranulomatosis (GDGDB) [ASAH1]
                    • Farber Lipogranulomatosis, type 1 [ASAH1]
                    • Farber Lipogranulomatosis, type 4 [ASAH1]
                  • Pompe disease (GDGDB) [GAA]
                • Respiration Disorders
                  • Apnea
                    • Sleep Apnea Syndromes
                      • Sleep Apnea, Obstructive
                        • Hurler syndrome (GDGDB) [IDUA]
                        • Hurler-Scheie syndrome (GDGDB) [IDUA]
                        • Scheie syndrome (GDGDB) [IDUA]
                        • Mucopolysaccharidosis II (GDGDB) [IDS]
                        • Morquio syndrome A (GDGDB) [GALNS]
                        • Morquio syndrome B (GDGDB) [GLB1]
                        • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                        • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                  • Dyspnea
                    • Gaucher disease, type II (GDGDB) [GBA]
                    • Krabbe disease (GDGDB) [GALC]
                      • Krabbe disease, infantile form [GALC]
                    • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                    • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                    • Farber Lipogranulomatosis (GDGDB) [ASAH1]
                    • Pompe disease (GDGDB) [GAA]
                  • Hoarseness
                    • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                    • Hurler syndrome (GDGDB) [IDUA]
                    • Hurler-Scheie syndrome (GDGDB) [IDUA]
                    • Scheie syndrome (GDGDB) [IDUA]
                    • Mucopolysaccharidosis II (GDGDB) [IDS]
                    • Farber Lipogranulomatosis (GDGDB) [ASAH1]
                  • Respiratory Insufficiency
                    • Airway Obstruction
                      • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                      • Hurler syndrome (GDGDB) [IDUA]
                      • Hurler-Scheie syndrome (GDGDB) [IDUA]
                      • Scheie syndrome (GDGDB) [IDUA]
                      • Mucopolysaccharidosis II (GDGDB) [IDS]
                      • Morquio syndrome A (GDGDB) [GALNS]
                      • Morquio syndrome B (GDGDB) [GLB1]
                      • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                      • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • Krabbe disease (GDGDB) [GALC]
                      • Krabbe disease, infantile form [GALC]
                    • Combined saposin deficiency (GDGDB) [PSAP]
                    • Pompe disease (GDGDB) [GAA]
                • Respiratory Tract Infections
                  • Aspartylglucosaminuria (GDGDB) [AGA]
                  • Fucosidosis (GDGDB) [FUCA1]
                  • Alpha-mannosidosis (GDGDB) [MAN2B1]
                  • Beta-mannosidosis (GDGDB) [MANBA]
                  • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                  • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
                  • Hurler syndrome (GDGDB) [IDUA]
                  • Hurler-Scheie syndrome (GDGDB) [IDUA]
                  • Scheie syndrome (GDGDB) [IDUA]
                  • Mucopolysaccharidosis II (GDGDB) [IDS]
                  • Sanfilippo syndrome A (GDGDB) [SGSH]
                  • Sanfilippo syndrome B (GDGDB) [NAGLU]
                  • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                  • Sanfilippo syndrome D (GDGDB) [GNS]
                  • Morquio syndrome A (GDGDB) [GALNS]
                  • Morquio syndrome B (GDGDB) [GLB1]
                  • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                  • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                  • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                  • Niemann-Pick disease, type B (GDGDB) [SMPD1]
                  • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                  • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                  • Combined saposin deficiency (GDGDB) [PSAP]
                  • Pompe disease (GDGDB) [GAA]
              • Skin and Connective Tissue Diseases
                • Connective Tissue Diseases
                  • Cutis Laxa
                    • Aspartylglucosaminuria (GDGDB) [AGA]
                  • Mucinoses
                    • Hurler syndrome (GDGDB) [IDUA]
                    • Hurler-Scheie syndrome (GDGDB) [IDUA]
                    • Scheie syndrome (GDGDB) [IDUA]
                    • Mucopolysaccharidosis II (GDGDB) [IDS]
                    • Mucopolysaccharidosis III
                    • Mucopolysaccharidosis IV
                    • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                    • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                • Skin Diseases
                  • Skin Abnormalities
                    • Ichthyosis
                      • Gaucher disease, type II (GDGDB) [GBA]
                        • Gaucher disease, type II, perinatal lethal form [GBA]
                      • Multiple sulfatase deficiency (GDGDB) [SUMF1]
                    • Gaucher disease, type II (GDGDB) [GBA]
                      • Gaucher disease, type II, perinatal lethal form [GBA]
                  • Sweat Gland Diseases
                    • Hypohidrosis
                      • Fabry disease (GDGDB) [GLA]
                  • Fabry disease (GDGDB) [GLA]
              • Stomatognathic Diseases
                • Mouth Diseases
                  • Periodontal Diseases
                    • Gingival Diseases
                      • Gingival Overgrowth
                        • Gingival Hyperplasia
                          • Alpha-mannosidosis (GDGDB) [MAN2B1]
                          • Sialidosis (GDGDB) [NEU1]
                          • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                          • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                          • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                          • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                  • Tongue Diseases
                    • Macroglossia
                      • Alpha-mannosidosis (GDGDB) [MAN2B1]
                      • Hurler syndrome (GDGDB) [IDUA]
                      • Hurler-Scheie syndrome (GDGDB) [IDUA]
                      • Scheie syndrome (GDGDB) [IDUA]
                      • Mucopolysaccharidosis II (GDGDB) [IDS]
                      • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                      • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                      • Pompe disease (GDGDB) [GAA]
                        • Pompe disease, infantile-onset form [GAA]
                • Stomatognathic System Abnormalities
                  • Maxillofacial Abnormalities
                    • Aspartylglucosaminuria (GDGDB) [AGA]
                    • Fucosidosis (GDGDB) [FUCA1]
                    • Alpha-mannosidosis (GDGDB) [MAN2B1]
                    • Beta-mannosidosis (GDGDB) [MANBA]
                    • Sialidosis (GDGDB) [NEU1]
                    • Galactosialidosis (GDGDB) [CTSA]
                    • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                    • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
                    • Hurler syndrome (GDGDB) [IDUA]
                    • Hurler-Scheie syndrome (GDGDB) [IDUA]
                    • Scheie syndrome (GDGDB) [IDUA]
                    • Sanfilippo syndrome A (GDGDB) [SGSH]
                    • Sanfilippo syndrome B (GDGDB) [NAGLU]
                    • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                    • Sanfilippo syndrome D (GDGDB) [GNS]
                    • Morquio syndrome A (GDGDB) [GALNS]
                    • Morquio syndrome B (GDGDB) [GLB1]
                    • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                    • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                    • Gaucher disease, type II (GDGDB) [GBA]
                      • Gaucher disease, type II, perinatal lethal form [GBA]
                    • Multiple sulfatase deficiency (GDGDB) [SUMF1]