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
'CDG-IIc' 'SLC35C1-CDG'
(
Integration tree
)
Pathogenesis (traditional nomenclature)
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]
Pathogenesis (new nomenclature)
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]
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
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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