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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 : pex1
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)