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