loading...| Preferred Name |
Brain Diseases, Metabolic, Inborn [Disease/Finding] |
|
| Synonyms |
|
|
| ID |
http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004169 |
|
| code |
C8516 |
|
| Display_Name |
Brain Diseases, Metabolic, Inborn |
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| imported from | ||
| label |
Brain Diseases, Metabolic, Inborn [Disease/Finding] |
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| MeSH_CUI |
M0328165 |
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| MeSH_Definition |
Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero. |
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| MeSH_DUI |
D020739 |
|
| MeSH_Name |
Brain Diseases, Metabolic, Inborn |
|
| NUI |
N0000004169 |
|
| prefixIRI |
NDF-RT:N0000004169 |
|
| prefLabel |
Brain Diseases, Metabolic, Inborn [Disease/Finding] |
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| RxNorm_CUI |
1022797 |
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| Synonym |
Inborn Metabolic Brain Diseases Brain Syndrome, Metabolic, Inborn Metabolic Brain Syndrome, Inborn Encephalopathies, Metabolic, Inborn Metabolic Diseases, Inborn, Brain Inborn Metabolic Brain Disorders Inborn Errors of Metabolism, Brain Inborn Metabolic Disorders, Brain Metabolic Brain Diseases, Inborn |
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| UMLS_CUI |
C0752109 |
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| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004169 | CIDO | SAME_URI | |
| http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004169 | CIDO | LOOM | |
| http://purl.bioontology.org/ontology/NDFRT/N0000004169 | NDFRT | LOOM |