peroxisome biogenesis disorder 1A

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Summary

Literature (0)

DOID:0080476 - peroxisome biogenesis disorder 1A

Disease Ontology Definition:A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21.

Synonyms: peroxisome biogenesis disorder 1A (Zellweger)

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pex1

MIM:

MIM:214100 - peroxisome biogenesis disorder 1a (zellweger); pbd1a

MIM:214100 - peroxisome biogenesis disorder 1a (zellweger); pbd1a

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): peroxisomal biogenesis disorder (is_a), Zellweger syndrome (is_a)