Term Name: peroxisome biogenesis disorder 1A
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.
Ontology: Human Disease [DOID:0080476]   ( DOID:0080476 )

Relationships
is a type of: Zellweger syndrome