Concept information
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Inborn error of metabolism
Storage disease
Disorder of lysosomal enzyme
Dysostosis multiplex group
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Inborn error of metabolism
Storage disease
Disorder of lysosomal enzyme
Dysostosis multiplex group
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Inborn error of metabolism
Storage disease
Disorder of lysosomal enzyme
Dysostosis multiplex group
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disease
Congenital disease
Inborn error of metabolism
Inherited metabolic disorder of nervous system
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disease
Metabolic disease
Inborn error of metabolism
Inherited metabolic disorder of nervous system
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Genetic disease
Hereditary disease
Inborn error of metabolism
Inherited metabolic disorder of nervous system
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Disorder of body system
Disease of nervous system
Hereditary disorder of nervous system
Inherited metabolic disorder of nervous system
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Disorder of body system
Hereditary disorder by system
Hereditary disorder of nervous system
Inherited metabolic disorder of nervous system
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Hereditary disease
Hereditary disorder by system
Hereditary disorder of nervous system
Inherited metabolic disorder of nervous system
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Congenital malformation
Congenital malformation syndrome (disorder)
Multiple system malformation syndrome
Multiple malformation syndrome with facial defects as major feature
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Congenital malformation
Congenital malformation syndrome (disorder)
Multiple system malformation syndrome
Multiple malformation syndrome with facial defects as major feature
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Congenital malformation
Congenital anomaly of head
Congenital anomaly of face (disorder)
Multiple malformation syndrome with facial defects as major feature
...
Congenital malformation
Congenital anomaly of head
Congenital anomaly of face (disorder)
Multiple malformation syndrome with facial defects as major feature
Clinical finding (finding)
Eye finding
Visual system disorder
Hereditary disorder of the visual system
Preferred term
Combined deficiency of sialidase AND beta galactosidase
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Associated morphology
Finding site
Is a
Occurrence
Pathological process
In other languages
URI
http://www.irandoc.acir/onto/irandoc/35691006
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