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ONTOLOGY REPORT - ANNOTATIONS


Term:Autosomal Dominant Craniometaphyseal Dysplasia
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Accession:DOID:9007172 term browser browse the term
Synonyms:exact_synonym: CMD;   CMDD;   CMDJ;   Craniometaphyseal dysplasia Jackson type;   Craniometaphyseal dysplasia dominant type
 primary_id: MESH:C565145
 alt_id: OMIM:123000;   RDO:0013871
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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:7240710
RGD:8554872
G Otulin OTU deubiquitinase with linear linkage specificity JBrowse link 2 80,267,724 80,293,204 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        muscular disease 957
          Craniomandibular Disorders 20
            craniometaphyseal dysplasia 6
              Autosomal Dominant Craniometaphyseal Dysplasia 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Skin and Connective Tissue Diseases 4211
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              osteochondrodysplasia 408
                osteosclerosis 44
                  craniometaphyseal dysplasia 6
                    Autosomal Dominant Craniometaphyseal Dysplasia 2
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.