ONTOLOGY REPORT - ANNOTATIONS


Term:rhizomelic chondrodysplasia punctata
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Accession:DOID:2580 term browser browse the term
Definition:An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)
Synonyms:exact_synonym: chondrodysplasia punctata, rhizomelic form;   rhizomelic chondrodysplasia punctatas
 primary_id: MESH:D018902
 alt_id: RDO:0000078
 xref: GARD:13160;   OMIM:PS215100;   ORDO:177
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rhizomelic chondrodysplasia punctata term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agps alkylglycerone phosphate synthase JBrowse link 3 62,648,352 62,749,250 RGD:1300366
RGD:8554872
G Gnpat glyceronephosphate O-acyltransferase JBrowse link 19 57,614,813 57,640,524 RGD:8554872
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:8554872
G Pex7 peroxisomal biogenesis factor 7 JBrowse link 1 15,311,768 15,374,702 RGD:11554173
RGD:8554872
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:13208515
RGD:11554173
rhizomelic chondrodysplasia punctata type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnpat glyceronephosphate O-acyltransferase JBrowse link 19 57,614,813 57,640,524 RGD:7240710
RGD:8554872
rhizomelic chondrodysplasia punctata type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agps alkylglycerone phosphate synthase JBrowse link 3 62,648,352 62,749,250 RGD:7240710
RGD:8554872
rhizomelic chondrodysplasia punctata type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      chondrodysplasia punctata 7
        rhizomelic chondrodysplasia punctata 4
          rhizomelic chondrodysplasia punctata type 1 1
          rhizomelic chondrodysplasia punctata type 2 1
          rhizomelic chondrodysplasia punctata type 3 1
          rhizomelic chondrodysplasia punctata type 5 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      Skin and Connective Tissue Diseases 3903
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              osteochondrodysplasia 403
                chondrodysplasia punctata 7
                  rhizomelic chondrodysplasia punctata 4
                    rhizomelic chondrodysplasia punctata type 1 1
                    rhizomelic chondrodysplasia punctata type 2 1
                    rhizomelic chondrodysplasia punctata type 3 1
                    rhizomelic chondrodysplasia punctata type 5 1
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