peroxisome biogenesis disorder 1A

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Echinobase

Summary

Literature (0)

DOID:0080476 - peroxisome biogenesis disorder 1A

Disease Ontology Definition:A peroxisomal biogenesis disorder 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

: pex1

OMIM:

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

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

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

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

Parent(s): peroxisomal biogenesis disorder (is_a)