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
'Mucolipidosis II (alpha/beta)'
Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lysosomal Storage Diseases
(degradation)
Pathogenesis
Genetic disorders of glycan degradation
Disorders of glycoprotein metabolism
Defects in post-translational modification of lysosomal enzymes
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Hereditary disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
Cardiovascular Diseases
Heart Diseases
Heart Valve Diseases
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Musculoskeletal Diseases
Bone Diseases
Bone Diseases, Developmental
Dysostoses
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Bone Diseases, Metabolic
Mucolipidoses
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Spinal Diseases
Spinal Curvatures
Kyphosis
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Joint Diseases
Contracture
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Maxillofacial Abnormalities
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Hip Dislocation, Congenital
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Limb Deformities, Congenital
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Neurologic Manifestations
Neurobehavioral Manifestations
Communication Disorders
Language Disorders
Speech Disorders
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Intellectual Disability
Mental Retardation, X-Linked
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Neuromuscular Manifestations
Muscle Hypotonia
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Sensation Disorders
Hearing Disorders
Hearing Loss
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Otorhinolaryngologic Diseases
Ear Diseases
Otitis
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Hearing Disorders
Hearing Loss
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Pathological Conditions, Signs and Symptoms
Pathological Conditions, Anatomical
Hernia
Hernia, Abdominal
Hernia, Inguinal
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Hernia, Ventral
Hernia, Umbilical
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Signs and Symptoms
Mobility Limitation
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Respiratory Tract Diseases
Respiration Disorders
Hoarseness
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Respiratory Insufficiency
Airway Obstruction
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Respiratory Tract Infections
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Stomatognathic Diseases
Mouth Diseases
Periodontal Diseases
Gingival Diseases
Gingival Overgrowth
Gingival Hyperplasia
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Stomatognathic System Abnormalities
Maxillofacial Abnormalities
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Developmental Disabilities
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Motor Skills Disorders
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
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