GGDonto: Genetic Glyco-Diseases Ontology
Legend:
Concept Types
target (single disease)
classification term
pathway-based classification term
clinical findings
multiple types disease
single disease
disease type
'CDG-Ij' 'DPAGT1-CDG'
Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
(synthesis)
Pathogenesis
Genetic disorders of glycan synthesis (traditional nomenclature)
Defects in N-glycan biosynthesis
Disorders of N-linked glycosylation - Congenital disorders of glycosylation (CDGs)
Type I CDGs
CDG-Ij
(GDGDB)
[DPAGT1]
Genetic disorders of glycan synthesis (new nomenclature)
Congenital disorders of glycosylation (CDGs)
Defects in protein N-glycosylation
Defects in lipid-linked oligosaccharide biosynthesis
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Eye Diseases
Lens Diseases
Cataract
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Ocular Motility Disorders
Strabismus
Exotropia
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Hemic and Lymphatic Diseases
Hematologic Diseases
Anemia
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Blood Protein Disorders
Hypoproteinemia
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Male Urogenital Diseases
Urogenital Abnormalities
Cryptorchidism
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Musculoskeletal Diseases
Joint Diseases
Contracture
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Maxillofacial Abnormalities
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Jaw Abnormalities
Micrognathism
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Microcephaly
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Epilepsy
Epilepsy, Generalized
Spasms, Infantile
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Nervous System Malformations
Malformations of Cortical Development
Microcephaly
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Neurologic Manifestations
Neurobehavioral Manifestations
Communication Disorders
Language Disorders
Speech Disorders
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Intellectual Disability
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Neuromuscular Manifestations
Muscle Hypertonia
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Muscle Hypotonia
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Dyskinesias
Tremor
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Seizures
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Cranial Nerve Diseases
Ocular Motility Disorders
Strabismus
Exotropia
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Pathological Conditions, Signs and Symptoms
Pathologic Processes
Hyperbilirubinemia
Jaundice
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Respiratory Tract Diseases
Respiration Disorders
Respiratory Insufficiency
DPAGT1-CDG
(GDGDB)
[DPAGT1]
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Stomatognathic Diseases
Stomatognathic System Abnormalities
Maxillofacial Abnormalities
Jaw Abnormalities
Micrognathism
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Developmental Disabilities
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Feeding and Eating Disorders of Childhood
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Intellectual Disability
DPAGT1-CDG
(GDGDB)
[DPAGT1]
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