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
Genetic disorders of glycan synthesis
'ALG13-CDG'
(
Integration tree
)
Pathogenesis (traditional nomenclature)
Genetic disorders of glycan synthesis (traditional nomenclature)
Pathogenesis (new nomenclature)
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]
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
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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