Legend:

• Concept Types
  • target (clinical findings)
  • 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
              • 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]
      • Lysosomal Storage Diseases (degradation)
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Diseases
              • 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]