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ONTOLOGY REPORT - ANNOTATIONS


Term:chondrodysplasia punctata
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Accession:DOID:2581 term browser browse the term
Definition:A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
Synonyms:exact_synonym: chondrodysplasia calcificans congenita;   chondrodysplasia punctata congenita;   chondrodysplasia punctata syndrome;   chondrodystrophia calcificans congenita;   dysplasia epiphysialis punctata;   stippled epiphyses
 primary_id: MESH:D002806
 alt_id: MESH:C565853;   OMIM:215105
 xref: GARD:8542;   NCI:C84632;   ORDO:93442
For additional species annotation, visit the Alliance of Genome Resources.


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chondrodysplasia punctata term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arse arylsulfatase E JBrowse link 2 122,876,645 122,884,673 RGD:1599238
G Ebp EBP, cholestenol delta-isomerase JBrowse link X 15,049,394 15,055,782 RGD:734908
RGD:11554173
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
X-linked chondrodysplasia punctata 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arse arylsulfatase E JBrowse link 2 122,876,645 122,884,673 RGD:11554173
RGD:8554872
RGD:7240710
G Ebp EBP, cholestenol delta-isomerase JBrowse link X 15,049,394 15,055,782 RGD:13592920
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,933,118 152,964,399 RGD:13592920
X-linked chondrodysplasia punctata 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ebp EBP, cholestenol delta-isomerase JBrowse link X 15,049,394 15,055,782 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      chondrodysplasia punctata 7
        Astley-Kendall Syndrome 0
        Chondrodysplasia Punctata with Coagulation Factor Deficiency 0
        Pacman Dysplasia 0
        X-linked chondrodysplasia punctata 1 3
        X-linked chondrodysplasia punctata 2 1
        autosomal dominant chondrodysplasia punctata + 0
        rhizomelic chondrodysplasia punctata + 4
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      musculoskeletal system disease 4297
        connective tissue disease 2786
          bone disease 2238
            bone development disease 1001
              osteochondrodysplasia 410
                chondrodysplasia punctata 7
                  Astley-Kendall Syndrome 0
                  Chondrodysplasia Punctata with Coagulation Factor Deficiency 0
                  Pacman Dysplasia 0
                  X-linked chondrodysplasia punctata 1 3
                  X-linked chondrodysplasia punctata 2 1
                  autosomal dominant chondrodysplasia punctata + 0
                  rhizomelic chondrodysplasia punctata + 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.