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-IIc' 'SLC35C1-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 II CDGs
CDG-IIc
(GDGDB)
[SLC35C1]
Genetic disorders of glycan synthesis (new nomenclature)
Congenital disorders of glycosylation (CDGs)
Defects in multiple glycosylation and other pathways
Defects in nucleotide-sugar transport
SLC35C1-CDG
(GDGDB)
[SLC35C1]
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Hemic and Lymphatic Diseases
Hematologic Diseases
Leukocyte Disorders
Leukocytosis
SLC35C1-CDG
(GDGDB)
[SLC35C1]
Musculoskeletal Diseases
Bone Diseases
Bone Diseases, Developmental
Dwarfism
SLC35C1-CDG
(GDGDB)
[SLC35C1]
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Maxillofacial Abnormalities
SLC35C1-CDG
(GDGDB)
[SLC35C1]
Microcephaly
SLC35C1-CDG
(GDGDB)
[SLC35C1]
Nervous System Diseases
Nervous System Malformations
Malformations of Cortical Development
Microcephaly
SLC35C1-CDG
(GDGDB)
[SLC35C1]
Neurologic Manifestations
Neurobehavioral Manifestations
Psychomotor Disorders
SLC35C1-CDG
(GDGDB)
[SLC35C1]
Intellectual Disability
SLC35C1-CDG
(GDGDB)
[SLC35C1]
Neuromuscular Manifestations
Muscle Hypotonia
SLC35C1-CDG
(GDGDB)
[SLC35C1]
Seizures
SLC35C1-CDG
(GDGDB)
[SLC35C1]
Otorhinolaryngologic Diseases
Ear Diseases
Otitis
SLC35C1-CDG
(GDGDB)
[SLC35C1]
Pathological Conditions, Signs and Symptoms
Pathologic Processes
Growth Disorders
SLC35C1-CDG
(GDGDB)
[SLC35C1]
Signs and Symptoms
Failure to Thrive
SLC35C1-CDG
(GDGDB)
[SLC35C1]
Respiratory Tract Diseases
Respiratory Tract Infections
SLC35C1-CDG
(GDGDB)
[SLC35C1]
Immune System Diseases
Immunologic Deficiency Syndromes
Leukocyte-Adhesion Deficiency Syndrome
SLC35C1-CDG
(GDGDB)
[SLC35C1]
SLC35C1-CDG
(GDGDB)
[SLC35C1]
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Developmental Disabilities
SLC35C1-CDG
(GDGDB)
[SLC35C1]
Intellectual Disability
SLC35C1-CDG
(GDGDB)
[SLC35C1]
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