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
'TMEM165-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 N-glycosylation
TMEM165-CDG
[TMEM165]
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
TMEM165-CDG
[TMEM165]
Endocrine System Diseases
TMEM165-CDG
[TMEM165]
Eye Diseases
Eye Abnormalities
TMEM165-CDG
[TMEM165]
Eye Diseases, Hereditary
TMEM165-CDG
[TMEM165]
Hemic and Lymphatic Diseases
Lymphatic Diseases
Splenic Diseases
TMEM165-CDG
[TMEM165]
Musculoskeletal Diseases
Bone Diseases
Bone Diseases, Developmental
Dwarfism
TMEM165-CDG
[TMEM165]
Osteochondrodysplasias
Osteogenesis Imperfecta
TMEM165-CDG
[TMEM165]
TMEM165-CDG
[TMEM165]
Bone Diseases, Metabolic
Osteoporosis
TMEM165-CDG
[TMEM165]
Spinal Diseases
Spinal Curvatures
Kyphosis
TMEM165-CDG
[TMEM165]
Scoliosis
TMEM165-CDG
[TMEM165]
TMEM165-CDG
[TMEM165]
Spondylosis
TMEM165-CDG
[TMEM165]
Joint Diseases
Joint Instability
TMEM165-CDG
[TMEM165]
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Maxillofacial Abnormalities
TMEM165-CDG
[TMEM165]
Microcephaly
TMEM165-CDG
[TMEM165]
TMEM165-CDG
[TMEM165]
Muscular Diseases
Muscle Weakness
TMEM165-CDG
[TMEM165]
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Epilepsy
TMEM165-CDG
[TMEM165]
Demyelinating Diseases
Hereditary Central Nervous System Demyelinating Diseases
TMEM165-CDG
[TMEM165]
Nervous System Malformations
Malformations of Cortical Development
Microcephaly
TMEM165-CDG
[TMEM165]
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
TMEM165-CDG
[TMEM165]
Neurologic Manifestations
Neurobehavioral Manifestations
Psychomotor Disorders
TMEM165-CDG
[TMEM165]
Neuromuscular Manifestations
Muscle Hypotonia
TMEM165-CDG
[TMEM165]
Muscle Weakness
TMEM165-CDG
[TMEM165]
Pathological Conditions, Signs and Symptoms
Pathologic Processes
Growth Disorders
TMEM165-CDG
[TMEM165]
Signs and Symptoms
Body Temperature Changes
Fever
TMEM165-CDG
[TMEM165]
Respiratory Tract Diseases
Lung Diseases
TMEM165-CDG
[TMEM165]
Skin and Connective Tissue Diseases
Connective Tissue Diseases
Collagen Diseases
Osteogenesis Imperfecta
TMEM165-CDG
[TMEM165]
Copyright © 2014-2023 National Institute of Advanced Industrial Science and Technology (AIST)