OBO ID: DOID:0080476
Term Name: peroxisome biogenesis disorder 1A Search Ontology:
Synonyms:
  • peroxisome biogenesis disorder 1A (Zellweger)
Definition: A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21. https://www.ncbi.nlm.nih.gov/pubmed/17055079
References:
Ontology: Human Disease   ( DOID:0080476 )
Relationships
is a type of:
OTHER peroxisome biogenesis disorder 1A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PEX1 Peroxisome biogenesis disorder 1A (Zellweger) 214100
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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