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 DeCS Categories

C05 Musculoskeletal Diseases .
C05.116 Bone Diseases .
C05.116.198 Bone Diseases, Metabolic .
C05.116.198.371 Mucolipidoses .
C10 Nervous System Diseases .
C10.228 Central Nervous System Diseases .
C10.228.140 Brain Diseases .
C10.228.140.163 Brain Diseases, Metabolic .
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn .
C10.228.140.163.100.362 Hereditary Central Nervous System Demyelinating Diseases .
C10.228.140.163.100.362.375 Canavan Disease .
C10.228.140.163.100.435 Lysosomal Storage Diseases, Nervous System .
C10.228.140.163.100.435.590 Mucolipidoses .
C10.228.140.695 Leukoencephalopathies .
C10.228.140.695.625 Hereditary Central Nervous System Demyelinating Diseases .
C10.228.140.695.625.375 Canavan Disease .
C10.292 Cranial Nerve Diseases .
C10.292.650 Olfactory Nerve Diseases .
C10.314 Demyelinating Diseases .
C10.314.400 Hereditary Central Nervous System Demyelinating Diseases .
C10.314.400.375 Canavan Disease .
C10.574 Neurodegenerative Diseases .
C10.574.500 Heredodegenerative Disorders, Nervous System .
C10.574.500.300 Canavan Disease .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.320 Genetic Diseases, Inborn .
C16.320.400 Heredodegenerative Disorders, Nervous System .
C16.320.400.150 Canavan Disease .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.189 Brain Diseases, Metabolic, Inborn .
C16.320.565.189.362 Hereditary Central Nervous System Demyelinating Diseases .
C16.320.565.189.362.375 Canavan Disease .
C16.320.565.189.435 Lysosomal Storage Diseases, Nervous System .
C16.320.565.189.435.590 Mucolipidoses .
C16.320.565.202 Carbohydrate Metabolism, Inborn Errors .
C16.320.565.202.670 Mucolipidoses .
C16.320.565.595 Lysosomal Storage Diseases .
C16.320.565.595.554 Lysosomal Storage Diseases, Nervous System .
C16.320.565.595.554.590 Mucolipidoses .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.132 Brain Diseases, Metabolic .
C18.452.132.100 Brain Diseases, Metabolic, Inborn .
C18.452.132.100.362 Hereditary Central Nervous System Demyelinating Diseases .
C18.452.132.100.362.375 Canavan Disease .
C18.452.132.100.435 Lysosomal Storage Diseases, Nervous System .
C18.452.132.100.435.590 Mucolipidoses .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.189 Brain Diseases, Metabolic, Inborn .
C18.452.648.189.362 Hereditary Central Nervous System Demyelinating Diseases .
C18.452.648.189.362.375 Canavan Disease .
C18.452.648.189.435 Lysosomal Storage Diseases, Nervous System .
C18.452.648.189.435.590 Mucolipidoses .
C18.452.648.202 Carbohydrate Metabolism, Inborn Errors .
C18.452.648.202.670 Mucolipidoses .
C18.452.648.595 Lysosomal Storage Diseases .
C18.452.648.595.554 Lysosomal Storage Diseases, Nervous System .
C18.452.648.595.554.590 Mucolipidoses .
C23 Pathological Conditions, Signs and Symptoms .
C23.550 Pathologic Processes .
C23.550.288 Disease .
D12 Amino Acids, Peptides, and Proteins .
D12.776 Proteins .
D12.776.503 Lectins .
D12.776.503.140 Discoidins .
D12.776.820 Protozoan Proteins .
D12.776.820.250 Discoidins .
HP1 Homeopathy .
HP1.007 Homeopathic Philosophy .
HP1.007.262 Patients .
HP1.007.262.808 Disease .
HP2 Homeopathic Clinics .
HP2.029 Disease .
SH1 Health Sciences, Technology and Innovation Management .
SH1.010 Policies and Cooperation in Science, Technology and Innovation .
SH1.010.020 International Cooperation .
SH1.010.020.060 Science and Technology Information Networks .
SH1.010.020.060.030 International Research Information System .
SP5 Epidemiology and Biostatistics .
SP5.001 Epidemiology .
SP5.001.002 Health-Disease Process .
SP5.001.002.013 Disease .
 
 Terms
 Synonyms & Historicals
Documents
LILACS e MDL
 
Mucolipidoses .
Cherry Red Spot-Myoclonus Syndrome .
Deficiency Disease, Ganglioside Sialidase .
Glycoprotein Neuraminidase Deficiency .
Inclusion Cell Disease .
Mucolipidosis I .
Mucolipidosis II .
Mucolipidosis III .
Mucolipidosis III Alpha Beta .
Mucolipidosis IIIa .
Mucolipidosis IV .
Mucolipidosis Type 1 .
Mucolipidosis Type I .
Mucolipidosis Type II .
Mucolipidosis Type III .
Mucolipidosis Type IV .
Myoclonus-Cherry Red Spot Syndrome .
Psuedo-Hurler Disease .
Sialolipidosis .
Type I Mucolipidosis .
Type II Mucolipidosis .
Type III Mucolipidosis .
Type IV Mucolipidosis .
Deficiencies, Glycoprotein Neuraminidase .
Deficiency, Glycoprotein Neuraminidase .
Glycoprotein Neuraminidase Deficiencies .
I Cell Disease .
I-Cell Diseases .
Inclusion Cell Diseases .
Lipomucopolysaccharidoses .
Mucolipidoses, Type I .
Mucolipidoses, Type II .
Mucolipidoses, Type III .
Mucolipidoses, Type IV .
Mucolipidosis, Type I .
Mucolipidosis, Type II .
Mucolipidosis, Type III .
Mucolipidosis, Type IV .
Polydystrophy, Pseudo-Hurler .
Pseudo Hurler Polydystrophy .
Psuedo Hurler Disease .
Psuedo-Hurler Diseases .
Sialidoses .
Sialolipidoses .
Type I Mucolipidoses .
Type II Mucolipidoses .
Type III Mucolipidoses .
Type IV Mucolipidoses .
I-Cell Disease .
Lipomucopolysaccharidosis .
Pseudo-Hurler Polydystrophy .
Cherry Red Spot Myoclonus Syndrome .
Ganglioside Sialidase Deficiency Disease .
Mucolipidosis .
Myoclonus Cherry Red Spot Syndrome .
Sialidosis .
A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7) .
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11967
 
Olfactory Nerve Diseases .
Cranial Nerve I Disorders .
Olfactory Nerve Disease .
Cranial Nerve I Diseases .
First Cranial Nerve Diseases .
Diseases of the first cranial (olfactory) nerve, which usually feature anosmia or other alterations in the sense of smell and taste. Anosmia may be associated with NEOPLASMS; CENTRAL NERVOUS SYSTEM INFECTIONS; CRANIOCEREBRAL TRAUMA; inherited conditions; toxins; METABOLIC DISEASES; tobacco abuse; and other conditions. (Adams et al., Principles of Neurology, 6th ed, pp229-31) .
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534
 
Discoidins .
Discoidin-I .
Discoidin-II .
Discoidin I .
Discoidin II .
Lectins that were identified in DICTYOSTELIUM DISCOIDEUM. They bind to GALACTOSE and are involved in cell-substratum adhesion, maintenance of morphology during aggregation, and spore formation. .
0.40
0126
 
International Research Information System .
I-Research .
Global Information System for National Research Councils, established by the National Research Council of the Netherlands, with the aim of forming an international network of national research institutes to share information about research and researchers from each participating country. (Free translation from the original: http://www.nwo.nl/nwohome.nsf/pages/NWOP_5VLHS2_Eng) .
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Canavan Disease .
ACY2 Deficiency .
ASP Deficiency .
ASPA Deficiency .
Aminoacylase 2 Deficiency .
Aspartoacylase Deficiency .
Canavan Disease, Familial Form .
Canavan Disease, Infantile .
Canavan Disease, Juvenile .
Canavan Disease, Neonatal .
Canavan Disease, Sporadic Form .
Canavan Disease, Type I .
Canavan Disease, Type II .
Canavan Disease, Type III .
Canavan-van Bogaert-Bertrand Disease .
Deficiency Disease, Aspartoacylase .
Familial Form of Canavan Disease .
Infantile Canavan Disease .
Juvenile Canavan Disease .
Leukodystrophy, Spongiform .
Neonatal Canavan Disease .
Spongy Degeneration Of Central Nervous System .
Spongy Degeneration of Infancy .
Spongy Degeneration of White Matter In Infancy .
Spongy Degeneration of the Brain .
Spongy Degeneration of the Central Nervous System .
Spongy Disease of Central Nervous System .
Spongy Disease of White Matter .
Sporadic Form of Canavan Disease .
Type I Canavan Disease .
Type II Canavan Disease .
Type III Canavan Disease .
Van Bogaert-Bertrand Syndrome .
Von Bogaert-Bertrand Disease .
Canavan van Bogaert Bertrand Disease .
Disease, Canavan .
Disease, Canavan-van Bogaert-Bertrand .
Disease, Von Bogaert-Bertrand .
Spongiform Leukodystrophy .
Syndrome, Van Bogaert-Bertrand .
Van Bogaert Bertrand Syndrome .
Von Bogaert Bertrand Disease .
Canavan-van Bogaert-Bertrand Disease .
Leukodystrophy, Spongiform .
Spongy Disease of White Matter .
A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71) .
0.39
1268
 
Disease .
Diseases .
Illness .
Disease Concept Evolution .
A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown. .
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