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Ontology Browser

Term:
rhizomelic chondrodysplasia punctata type 5 (DOID:0110854)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
rhizomelic chondrodysplasia punctata type 1  
rhizomelic chondrodysplasia punctata type 2  
rhizomelic chondrodysplasia punctata type 3  
rhizomelic chondrodysplasia punctata type 5  
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. (DO)

Synonyms
Exact Synonyms: RCDP5
Primary IDs: OMIM:616716 ;   RDO:9000772
Xrefs: ORDO:468717
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/26220973 "DO" "DO"

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