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
              • 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]
      • Lysosomal Storage Diseases (degradation)
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Diseases
              • 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]