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FNS-Harmony
Last uploaded:
November 2, 2023
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Preferred Name | Zellweger syndrome | |
Synonyms |
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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. |
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ID |
http://purl.obolibrary.org/obo/DOID_905 |
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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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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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