ONTOLOGY REPORT - ANNOTATIONS


Term:rhizomelic chondrodysplasia punctata type 1
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Accession:DOID:0110851 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 PEX7 gene on chromosome 6q23.3. (DO)
Synonyms:exact_synonym: CDPR;   Chondrodystrophia calcificans punctata;   PBD9;   PEROXISOME BIOGENESIS DISORDER 9;   RCDP1
 primary_id: MESH:C531651
 alt_id: OMIM:215100;   RDO:0000077
 xref: GARD:6049;   ORDO:309789
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rhizomelic chondrodysplasia punctata type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex7 peroxisomal biogenesis factor 7 JBrowse link 1 15,311,768 15,374,702 RGD:7240710
RGD:8554872
RGD:11554173
RGD:13208515

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Path 1
Term Annotations click to browse term
  disease 14919
    syndrome 4713
      chondrodysplasia punctata 7
        rhizomelic chondrodysplasia punctata 4
          rhizomelic chondrodysplasia punctata type 1 1
Path 2
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      Skin and Connective Tissue Diseases 3925
        connective tissue disease 2584
          bone disease 2124
            bone development disease 894
              osteochondrodysplasia 405
                chondrodysplasia punctata 7
                  rhizomelic chondrodysplasia punctata 4
                    rhizomelic chondrodysplasia punctata type 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.