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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:rhizomelic chondrodysplasia punctata type 5
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Accession:DOID:0110854 term browser browse the term
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. (DO)
Synonyms:exact_synonym: RCDP5
 primary_id: OMIM:616716;   RDO:9000772
 xref: ORDO:468717
For additional species annotation, visit the Alliance of Genome Resources.



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rhizomelic chondrodysplasia punctata type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 OMIM
ClinVar
PMID:25741868 PMID:26220973 NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    syndrome 9691
      chondrodysplasia punctata 7
        rhizomelic chondrodysplasia punctata 4
          rhizomelic chondrodysplasia punctata type 5 1
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      musculoskeletal system disease 7212
        connective tissue disease 5011
          bone disease 3677
            bone development disease 1856
              osteochondrodysplasia 612
                chondrodysplasia punctata 7
                  rhizomelic chondrodysplasia punctata 4
                    rhizomelic chondrodysplasia punctata type 5 1
paths to the root