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ONTOLOGY REPORT - ANNOTATIONS


Term:craniometaphyseal dysplasia
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Accession:DOID:0080033 term browser browse the term
Definition:An osteosclerosis that has_material_basis_in mutations in the ANKH gene which results_in progressive thickening located_in skull and abnormally shaped ends of long bones in the limbs. (DO)
Synonyms:primary_id: RDO:9004983
 xref: ORDO:1522
For additional species annotation, visit the Alliance of Genome Resources.


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craniometaphyseal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankh ANKH inorganic pyrophosphate transport regulator JBrowse link 2 80,131,563 80,256,948 RGD:8554872
RGD:13592920
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:13592920
G Ift43 intraflagellar transport 43 JBrowse link 6 109,939,323 110,016,646 RGD:13592920
G Otulin OTU deubiquitinase with linear linkage specificity JBrowse link 2 80,267,724 80,293,204 RGD:8554872
G Sost sclerostin JBrowse link 10 89,897,087 89,900,131 RGD:13592920
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:13592920
Autosomal Dominant Craniometaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankh ANKH inorganic pyrophosphate transport regulator JBrowse link 2 80,131,563 80,256,948 RGD:734571
RGD:8554872
RGD:7240710
G Otulin OTU deubiquitinase with linear linkage specificity JBrowse link 2 80,267,724 80,293,204 RGD:8554872
Autosomal Recessive Craniometaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:7240710
RGD:8554872
Schwartz-Lelek Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:8662399

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      musculoskeletal system disease 4277
        muscular disease 959
          Craniomandibular Disorders 20
            craniometaphyseal dysplasia 6
              Autosomal Dominant Craniometaphyseal Dysplasia 2
              Autosomal Recessive Craniometaphyseal Dysplasia 1
              Schwartz-Lelek Syndrome 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      Skin and Connective Tissue Diseases 4223
        connective tissue disease 2775
          bone disease 2227
            bone development disease 994
              osteochondrodysplasia 408
                osteosclerosis 44
                  craniometaphyseal dysplasia 6
                    Autosomal Dominant Craniometaphyseal Dysplasia 2
                    Autosomal Recessive Craniometaphyseal Dysplasia 1
                    Schwartz-Lelek Syndrome 1
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.