Search Ontology:
Human Disease

rhizomelic chondrodysplasia punctata type 1

Term ID
DOID:0110851
Synonyms
  • Pbd9
  • Peroxisome Biogenesis Disorder 9
  • Rcdp1
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. https://www.ncbi.nlm.nih.gov/pubmed/15679822
References
Ontology
Human Disease   ( DOID:0110851 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.