| Metadata | |
|---|---|
| ID | DOID:905 |
| Name | Zellweger syndrome |
| Definition | A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=912, http://en.wikipedia.org/wiki/Zellweger_Syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:88469006 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
cerebrohepatorenal syndrome [EXACT] congenital iron overload [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |