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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, PBD9, Peroxisome Biogenesis Disorder 9, Rcdp1, RCDP1

Xenbase Genes : pex7

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008972 - rhizomelic chondrodysplasia punctata type 1

MIM:
MIM:215100 - RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1

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

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