OBO ID: DOID:0110854
Term Name: rhizomelic chondrodysplasia punctata type 5 Search Ontology:
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 rhizomelic chondrodysplasia punctata type 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PEX5 Rhizomelic chondrodysplasia punctata, type 5 616716
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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