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BioAssay Ontology
Last uploaded:
February 21, 2024
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| Preferred Name | Zellweger syndrome | |
| Synonyms |
cerebrohepatorenal syndrome peroxisome biogenesis disorder congenital iron overload |
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| 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]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_905 |
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| comment |
OMIM mapping confirmed by DO. [LS].
OMIM mapping confirmed by DO. [SN].
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| database_cross_reference |
MESH:D015211 SNOMEDCT_US_2020_03_01:88469006 UMLS_CUI:C0043459 ICD10CM:E71.510 GARD:7917 NCI:C85239 ORDO:912
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| has exact synonym |
cerebrohepatorenal syndrome peroxisome biogenesis disorder congenital iron overload
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| has_obo_namespace |
disease_ontology
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| id |
DOID:905
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| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim |
|
| label |
Zellweger syndrome
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|
| notation |
DOID:905
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| prefLabel |
Zellweger syndrome
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|
| 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.
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| subClassOf |
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