loading...| Preferred Name |
Zellweger syndrome |
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| Synonyms |
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| Definitions |
OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN]. A peroxisomal disease 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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| 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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| definition |
A peroxisomal disease 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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| hasDbXref |
ORDO:912 NCI:C85239 MESH:D015211 ICD10CM:E71.510 SNOMEDCT_US_2016_03_01:88469006 UMLS_CUI:C0043459 OMIM:214100 |
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| hasExactSynonym |
cerebrohepatorenal syndrome congenital iron overload peroxisome biogenesis disorder |
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| hasOBONamespace |
disease_ontology |
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| id |
DOID:905 |
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| imported from | ||
| inSubset | ||
| label |
Zellweger syndrome |
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| prefixIRI |
DOID:905 |
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| prefLabel |
Zellweger syndrome |
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| subClassOf |
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