Search Ontology:
Human Disease

rhizomelic chondrodysplasia punctata type 5

Term ID
DOID:0110854
Synonyms
  • RCDP5
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
References
Ontology
Human Disease   ( DOID:0110854 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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