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ONTOLOGY REPORT - ANNOTATIONS


Term:Dyggve-Melchior-Clausen disease
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Accession:DOID:0111167 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21. (DO)
Synonyms:exact_synonym: DMC;   DMC disease;   Dyggve-Melchior-Clausen syndrome;   Dyggve-Melchior-Clausen syndrome X linked;   pseudo-Morquio disease type I
 primary_id: MESH:C535726
 alt_id: DOID:9007252;   OMIM:223800;   RDO:0001006
 xref: GARD:6295
For additional species annotation, visit the Alliance of Genome Resources.


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Dyggve-Melchior-Clausen disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dym dymeclin JBrowse link 18 70,996,074 71,313,033 RGD:7240710
RGD:8554872
Smith-McCort dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dym dymeclin JBrowse link 18 70,996,074 71,313,033 RGD:7240710
RGD:8554872
G Rab33b RAB33B, member RAS oncogene family JBrowse link 2 140,541,619 140,552,220 RGD:8554872
RGD:13592920
Smith-McCort Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab33b RAB33B, member RAS oncogene family JBrowse link 2 140,541,619 140,552,220 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Dyggve-Melchior-Clausen disease 2
        Smith-McCort dysplasia + 2
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    Dyggve-Melchior-Clausen disease 2
                      Smith-McCort dysplasia + 2
paths to the root