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
'ALG13-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 (new nomenclature)
Congenital disorders of glycosylation (CDGs)
Defects in protein N-glycosylation
Defects in lipid-linked oligosaccharide biosynthesis
ALG13-CDG
[ALG13]
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Digestive System Diseases
Liver Diseases
Hepatomegaly
ALG13-CDG
[ALG13]
Eye Diseases
Eye Diseases, Hereditary
Optic Atrophies, Hereditary
ALG13-CDG
[ALG13]
Ocular Motility Disorders
Nystagmus, Pathologic
Nystagmus, Congenital
ALG13-CDG
[ALG13]
Optic Nerve Diseases
Optic Atrophy
Optic Atrophies, Hereditary
ALG13-CDG
[ALG13]
ALG13-CDG
[ALG13]
Musculoskeletal Diseases
Bone Diseases
Spinal Diseases
Spinal Curvatures
Scoliosis
ALG13-CDG
[ALG13]
Joint Diseases
Contracture
ALG13-CDG
[ALG13]
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Craniofacial Dysostosis
Hypertelorism
ALG13-CDG
[ALG13]
Maxillofacial Abnormalities
Jaw Abnormalities
Micrognathism
ALG13-CDG
[ALG13]
ALG13-CDG
[ALG13]
Microcephaly
ALG13-CDG
[ALG13]
ALG13-CDG
[ALG13]
Limb Deformities, Congenital
Lower Extremity Deformities, Congenital
Foot Deformities, Congenital
ALG13-CDG
[ALG13]
Upper Extremity Deformities, Congenital
Hand Deformities, Congenital
ALG13-CDG
[ALG13]
ALG13-CDG
[ALG13]
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Intracranial Hypertension
Hydrocephalus
ALG13-CDG
[ALG13]
Epilepsy
ALG13-CDG
[ALG13]
Hydrocephalus
ALG13-CDG
[ALG13]
Demyelinating Diseases
Hereditary Central Nervous System Demyelinating Diseases
ALG13-CDG
[ALG13]
Nervous System Malformations
Malformations of Cortical Development
Microcephaly
ALG13-CDG
[ALG13]
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
ALG13-CDG
[ALG13]
Neurologic Manifestations
Neurobehavioral Manifestations
Psychomotor Disorders
ALG13-CDG
[ALG13]
Neuromuscular Manifestations
Muscle Hypotonia
ALG13-CDG
[ALG13]
Seizures
ALG13-CDG
[ALG13]
Cranial Nerve Diseases
Ocular Motility Disorders
Nystagmus, Pathologic
Nystagmus, Congenital
ALG13-CDG
[ALG13]
Optic Nerve Diseases
Optic Atrophy
Optic Atrophies, Hereditary
ALG13-CDG
[ALG13]
ALG13-CDG
[ALG13]
Pathological Conditions, Signs and Symptoms
Pathologic Processes
Hemorrhage
ALG13-CDG
[ALG13]
Signs and Symptoms
Edema
ALG13-CDG
[ALG13]
Respiratory Tract Diseases
Respiratory Tract Infections
ALG13-CDG
[ALG13]
Stomatognathic Diseases
Stomatognathic System Abnormalities
Maxillofacial Abnormalities
Jaw Abnormalities
Micrognathism
ALG13-CDG
[ALG13]
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Feeding and Eating Disorders of Childhood
ALG13-CDG
[ALG13]
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