loading...| Preferred Name |
Zellweger Syndrome |
|
| Synonyms |
Zellweger-Like Syndrome |
|
| Definitions |
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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D015211 |
|
| altLabel |
Zellweger-Like Syndrome Zellweger Syndrome Spectrum Zellweger Like Syndrome Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum Cerebro Hepato Renal Syndrome Zellweger's Syndrome Cerebro-Hepato-Renal Syndrome Cerebrohepatorenal Syndrome PBD, ZSS Spectrum, Zellweger Zellweger Disease Zellweger Spectrum |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0043459 C3658299 C0751594 |
|
| DC |
1 |
|
| 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. |
|
| DX |
19890101 |
|
| HN |
1989 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
1989 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C531857 |
|
| MDA |
19880504 |
|
| MMR |
20210630 |
|
| MN |
C12.950.419.978 C16.320.565.663.970 C18.452.132.100.968 C06.552.970 C16.320.565.189.968 C16.131.077.970 C12.200.777.419.978 C18.452.648.663.970 C12.050.351.968.419.978 C10.228.140.163.100.968 C18.452.648.189.968 |
|
| notation |
D015211 |
|
| prefLabel |
Zellweger Syndrome |
|
| TERMUI |
T842792 T843886 T842790 T044478 T370933 T044476 T842793 T044477 T370934 T044475 |
|
| TH |
OMIM (2013) NLM (2000) UNK (19XX) GHR (2014) NLM (1989) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D007674 http://purl.bioontology.org/ontology/MESH/D018901 http://purl.bioontology.org/ontology/MESH/D000015 |