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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 peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Most patients die in the first decade of life. (OMIM)

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

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