GGDonto: Genetic Glyco-Diseases Ontology
Legend:
Concept Types
target (clinical findings)
classification term
pathway-based classification term
clinical findings
multiple types disease
single disease
disease type
Genetic disorders of glycan synthesis
'Hemic and Lymphatic Diseases'
(
Integration tree
)
Pathogenesis (traditional nomenclature)
Genetic disorders of glycan synthesis (traditional nomenclature)
Pathogenesis (new nomenclature)
Genetic disorders of glycan synthesis (new nomenclature)
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
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]
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