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| Preferred Name | cerebrohepatorenal syndrome | |
| Synonyms |
congenital iron overload Zellweger 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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| ID |
http://purl.bioontology.org/ontology/CSP/1849-1804 |
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| altLabel |
congenital iron overload Zellweger syndrome
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|
| cui |
C0043459
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|
| 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.
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| DID |
1849-1804
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| Inverse of RB |
http://purl.bioontology.org/ontology/CSP/0944-7801 http://purl.bioontology.org/ontology/CSP/1754-6264 http://purl.bioontology.org/ontology/CSP/0723-2277 |
|
| Inverse of RO | ||
| notation |
1849-1804
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|
| prefLabel |
cerebrohepatorenal syndrome
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|
| tui |
T047
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| subClassOf |
http://purl.bioontology.org/ontology/CSP/0944-7801 http://purl.bioontology.org/ontology/CSP/1754-6264 http://purl.bioontology.org/ontology/CSP/0723-2277 |
| Delete | Subject | Author | Type | Created |
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