loading...| Preferred Name |
Zellweger Syndrome [Disease/Finding] |
|
| Synonyms |
Zellweger's Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000003205 |
|
| altLabel |
Zellweger's Syndrome Zellweger Syndrome Cerebro-Hepato-Renal Syndrome Cerebrohepatorenal Syndrome Zellweger Disease |
|
| cui |
C0043459 |
|
| May be treated by |
http://purl.bioontology.org/ontology/NDFRT/N0000191607 |
|
| 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. |
|
| MESH DUI |
D015211 |
|
| MeSH name |
Zellweger Syndrome |
|
| MESH UI |
M0023373 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000003205 |
|
| NUI |
N0000003205 |
|
| prefLabel |
Zellweger Syndrome [Disease/Finding] |
|
| SNOMED CID |
88469006 |
|
| tui |
T047 |
|
| subClassOf |