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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-1804
http://purl.bioontology.org/ontology/CSP/1849-1804
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|---|---|
| Preferred Name | cerebrohepatorenal syndrome |
| Definitions |
autosomal recessive peroxisomal disorder, also known as Zellweger syndrome, that typically presents in the neonatal period and is usually fatal; clinical features include hypotonia, dysmorphic skull and facial bones, visual compromise, multifocal seizures, hepatomegaly, biliary dysgenesis, and swallowing difficulties; pathologically, there are migration deficits of the neocortex and degeneration of white matter tracts; Zellweger-like syndrome refers to conditions that phenotypically resemble neonatal Zellweger syndrome, but occur in childhood or adulthood.
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| Synonyms |
congenital iron overload
Zellweger syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | autosomal recessive peroxisomal disorder, also known as Zellweger syndrome, that typically presents in the neonatal period and is usually fatal; clinical features include hypotonia, dysmorphic skull and facial bones, visual compromise, multifocal seizures, hepatomegaly, biliary dysgenesis, and swallowing difficulties; pathologically, there are migration deficits of the neocortex and degeneration of white matter tracts; Zellweger-like syndrome refers to conditions that phenotypically resemble neonatal Zellweger syndrome, but occur in childhood or adulthood. |
|---|---|
| altLabel |
congenital iron overload
Zellweger syndrome
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| prefLabel | cerebrohepatorenal syndrome
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| Inverse of RO | |
| type | |
| tui | T047
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| notation | 1849-1804
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| Semantic type UMLS property | |
| DID | 1849-1804
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| cui | C0043459
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| Inverse of RB | |
| subClassOf |
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