Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
peroxisomal biogenesis disorder |
| gptkbp:affects |
peroxisome biogenesis
|
| gptkbp:alsoKnownAs |
cerebrohepatorenal syndrome
|
| gptkbp:diagnosedBy |
genetic testing
biochemical tests |
| gptkbp:firstDescribed |
1964
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Zellweger syndrome
|
| gptkbp:ICD-10_code |
E71.5
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
PEX genes
|
| gptkbp:namedAfter |
Hans Zellweger
|
| gptkbp:OMIM |
214100
|
| gptkbp:onset |
neonatal
|
| gptkbp:prognosis |
poor
|
| gptkbp:symptom |
hypotonia
vision problems hearing loss seizures developmental delay liver dysfunction craniofacial abnormalities |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Peroxisome
gptkb:peroxisome |
| gptkbp:bfsLayer |
6
|