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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | Metachromatic Leukodystrophy | |
| Synonyms |
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| Definitions |
An autosomal recessive inherited disorder characterized by abnormalities in the development of the myelin sheaths. It is caused by a deficiency of the enzyme arylsulfatase A. There are three forms of this disease: late infantile, juvenile, and adult. In the late infantile form symptoms include muscle weakness and rigidity, gait disturbances, developmental delays, and seizures. In the juvenile form symptoms include gait disturbances, mental deterioration and seizures. The adult form is characterized by psychotic symptoms and dementia. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C61251 |
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| code |
C61251
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| Contributing_Source |
Cellosaurus CTRP
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| definition |
An autosomal recessive inherited disorder characterized by abnormalities in the development of the myelin sheaths. It is caused by a deficiency of the enzyme arylsulfatase A. There are three forms of this disease: late infantile, juvenile, and adult. In the late infantile form symptoms include muscle weakness and rigidity, gait disturbances, developmental delays, and seizures. In the juvenile form symptoms include gait disturbances, mental deterioration and seizures. The adult form is characterized by psychotic symptoms and dementia.
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| Display_Name |
Metachromatic Leukodystrophy
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C116977 |
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| label |
Metachromatic Leukodystrophy
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| Legacy Concept Name |
Metachromatic_Leukodystrophy
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| Preferred_Name |
Metachromatic Leukodystrophy
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| prefixIRI |
NCIT:C61251
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| prefLabel |
Metachromatic Leukodystrophy
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| Semantic_Type |
Disease or Syndrome
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| UMLS_CUI |
C0023522
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| subClassOf |
http://purl.obolibrary.org/obo/NCIT_C61250 |
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