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
'Mental retardation, autosomal recessive 15'
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 N-glycosylation
Defects in N-glycan trimming
Mental retardation, autosomal recessive 15
[MAN1B1]
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Musculoskeletal Diseases
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Craniofacial Dysostosis
Hypertelorism
Mental retardation, autosomal recessive 15
[MAN1B1]
Maxillofacial Abnormalities
Mental retardation, autosomal recessive 15
[MAN1B1]
Mental retardation, autosomal recessive 15
[MAN1B1]
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Epilepsy
Mental retardation, autosomal recessive 15
[MAN1B1]
Neurologic Manifestations
Neurobehavioral Manifestations
Psychomotor Disorders
Mental retardation, autosomal recessive 15
[MAN1B1]
Communication Disorders
Language Disorders
Speech Disorders
Mental retardation, autosomal recessive 15
[MAN1B1]
Intellectual Disability
Mental retardation, autosomal recessive 15
[MAN1B1]
Seizures
Mental retardation, autosomal recessive 15
[MAN1B1]
Nutritional and Metabolic Diseases
Nutrition Disorders
Overnutrition
Obesity
Mental retardation, autosomal recessive 15
[MAN1B1]
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Intellectual Disability
Mental retardation, autosomal recessive 15
[MAN1B1]
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