Statements (15)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
peroxisome biogenesis
|
| gptkbp:alsoKnownAs |
gptkb:Zellweger_syndrome
|
| gptkbp:causedBy |
mutations in PEX genes
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
Hans Zellweger
|
| https://www.w3.org/2000/01/rdf-schema#label |
Zelle's disease
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:prognosis |
poor
|
| gptkbp:symptom |
hypotonia
seizures liver dysfunction craniofacial abnormalities |
| gptkbp:bfsParent |
gptkb:Adam_Zelle
|
| gptkbp:bfsLayer |
8
|