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