Human Disease and Mouse Model Detail

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Human Disease

Term: Peroxisome Biogenesis Disorder 1B; PBD1B
OMIM ID: 601539

Synonyms

Adrenoleukodystrophy, Autosomal Neonatal; Infantile Phytanic Acid Storage Disease; Peroxisome Biogenesis Disorder (nald/Ird); Peroxisome Biogenesis Disorder (neonatal Adrenoleukodystrophy/Infantile Refsum Disease); Refsum Disease, Infantile

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

Pex12	PEX12
Pex16	PEX16
Pex6	PEX6

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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