loading...| Preferred Name |
Zellweger syndrome |
|
| Synonyms |
cerebrohepatorenal syndrome |
|
| Definitions |
OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN]. 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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_905 |
|
| comment |
OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
MESH:D015211 SNOMEDCT_US_2020_03_01:88469006 UMLS_CUI:C0043459 ICD10CM:E71.510 GARD:7917 NCI:C85239 ORDO:912 |
|
| has exact synonym |
cerebrohepatorenal syndrome peroxisome biogenesis disorder congenital iron overload |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:905 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim |
|
| label |
Zellweger syndrome |
|
| notation |
DOID:905 |
|
| prefLabel |
Zellweger syndrome |
|
| textual 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. |
|
| subClassOf |
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