loading...| Preferred Name |
Zellweger syndrome |
| Synonyms |
congenital iron overload |
| Definitions |
A peroxisomal biogenesis disorder that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_905 |
| comment |
OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
ORDO:912 NCI:C85239 SNOMEDCT_US_2022_09_01:88469006 MESH:D015211 UMLS_CUI:C0043459 GARD:7917 ICD10CM:E71.510 |
| definition |
A peroxisomal biogenesis disorder that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. |
| has exact synonym |
congenital iron overload cerebrohepatorenal syndrome |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:905 |
| in_subset |
http://purl.obolibrary.org/obo/doid#DO_rare_slim |
| label |
Zellweger syndrome |
| notation |
DOID:905 |
| prefLabel |
Zellweger syndrome |
| subClassOf |