Visualize Submit Comment
Metadata
ID DOID:0110854
Name rhizomelic chondrodysplasia punctata type 5
Definition A rhizomelic chondrodysplasia punctata that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31.
https://www.ncbi.nlm.nih.gov/pubmed/26220973
Xrefs

OMIM:616716

ORDO:468717

Synonyms

Rcdp5 [EXACT]

Parent Relationships

is_a rhizomelic chondrodysplasia punctata

Add an item to the term tracker