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Echinobase
Summary Literature (0)
DOID:0110851 - rhizomelic chondrodysplasia punctata type 1

Disease Ontology Definition:A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3.

Synonyms: Pbd9, Peroxisome Biogenesis Disorder 9, Rcdp1,

Echinobase Genes : pex7


OMIM:
MIM:215100 - rhizomelic chondrodysplasia punctata, type 1; rcdp1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): rhizomelic chondrodysplasia punctata (is_a)