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
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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