Preferred Name | Zellweger syndrome | |
Synonyms |
cerebrohepatorenal syndrome congenital iron overload |
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Definitions |
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. 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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alternative label |
cerebrohepatorenal syndrome congenital iron overload |
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database_cross_reference |
MESH:D015211 SNOMEDCT_US_2023_03_01:88469006 UMLS_CUI:C0043459 ICD10CM:E71.510 GARD:7917 NCI:C85239 ORDO:912 |
|
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. |
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has exact synonym |
cerebrohepatorenal syndrome congenital iron overload |
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has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:905 |
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in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
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label |
Zellweger syndrome |
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notation |
DOID:905 |
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prefLabel |
Zellweger syndrome |
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subClassOf |