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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000003205
http://purl.bioontology.org/ontology/NDFRT/N0000003205
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|---|---|
| Preferred Name | Zellweger Syndrome [Disease/Finding] |
| Synonyms |
Zellweger's Syndrome
Zellweger Syndrome
Cerebro-Hepato-Renal Syndrome
Cerebrohepatorenal Syndrome
Zellweger Disease
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Zellweger's Syndrome
Zellweger Syndrome
Cerebro-Hepato-Renal Syndrome
Cerebrohepatorenal Syndrome
Zellweger Disease
|
|---|---|
| prefLabel | Zellweger Syndrome [Disease/Finding]
|
| MESH DEFINITION | An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
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| MESH DUI | D015211
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| MESH UI | M0023373
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| MeSH name | Zellweger Syndrome
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| type | |
| tui | T047
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| SNOMED CID | 88469006
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| May be treated by | |
| notation | N0000003205
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| Semantic type UMLS property | |
| NUI | N0000003205
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| cui | C0043459
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| NDFRT kind | DISEASE_KIND
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |