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
'Fukuyama congenital muscular dystrophy'
(
Integration tree
)
Pathogenesis (traditional nomenclature)
Genetic disorders of glycan synthesis (traditional nomenclature)
Disorders of O-linked glycosylation
Defects in O-mannose glycans
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Pathogenesis (new nomenclature)
Genetic disorders of glycan synthesis (new nomenclature)
Congenital disorders of glycosylation (CDGs)
Defects in protein O-glycosylation
Defects in O-mannosylglycan synthesis
FKTN-CDG (cong. muscular dystrophy spectrum)
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Cardiovascular Diseases
Heart Diseases
Cardiomyopathies
Endomyocardial Fibrosis
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Eye Diseases
Eye Abnormalities
Microphthalmos
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Retinal Dysplasia
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Lens Diseases
Cataract
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Retinal Diseases
Retinal Degeneration
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Eye Diseases, Hereditary
Optic Atrophies, Hereditary
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Retinal Dysplasia
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Refractive Errors
Myopia
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Ocular Motility Disorders
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Vision Disorders
Vision, Low
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Optic Nerve Diseases
Optic Atrophy
Optic Atrophies, Hereditary
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Musculoskeletal Diseases
Joint Diseases
Contracture
Hip Contracture
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Muscular Diseases
Muscle Weakness
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Muscular Disorders, Atrophic
Muscular Dystrophies
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Intracranial Hypertension
Hydrocephalus
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Cerebellar Diseases
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Hydrocephalus
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Ocular Motility Disorders
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Nervous System Malformations
Malformations of Cortical Development
Lissencephaly
Cobblestone Lissencephaly
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Neuronal Migration Disorders
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Cobblestone Lissencephaly
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Central Nervous System Cysts
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Neurologic Manifestations
Neurobehavioral Manifestations
Communication Disorders
Language Disorders
Speech Disorders
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Intellectual Disability
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Neuromuscular Manifestations
Muscle Hypotonia
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Muscular Atrophy
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Muscle Weakness
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Sensation Disorders
Vision Disorders
Vision, Low
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Seizures
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Neuromuscular Diseases
Muscular Diseases
Muscular Disorders, Atrophic
Muscular Dystrophies
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Cranial Nerve Diseases
Ocular Motility Disorders
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Optic Nerve Diseases
Optic Atrophy
Optic Atrophies, Hereditary
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Otorhinolaryngologic Diseases
Pharyngeal Diseases
Deglutition Disorders
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Pathological Conditions, Signs and Symptoms
Signs and Symptoms
Mobility Limitation
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Respiratory Tract Diseases
Respiration Disorders
Respiratory Insufficiency
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Respiratory Tract Infections
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Stomatognathic Diseases
Mouth Diseases
Tongue Diseases
Macroglossia
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Developmental Disabilities
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Motor Skills Disorders
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Intellectual Disability
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
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