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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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: OMIM:223800
 xref: GARD:6295;   NCI:C124844
For additional species annotation, visit the Alliance of Genome Resources.


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Dyggve-Melchior-Clausen disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dym dymeclin ISO ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndrome
ClinVar Annotator: match by OMIM:223800
OMIM
ClinVar
PMID:12161821, PMID:12491225, PMID:12554689, PMID:16097008, PMID:25741868, PMID:28492532 NCBI chr18:70,996,074...71,313,033
Ensembl chr18:70,996,044...71,313,084
JBrowse link
Smith-McCort dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dym dymeclin ISO ClinVar Annotator: match by term: Smith-McCort dysplasia
ClinVar Annotator: match by term: Smith-McCort dysplasia 1
ClinVar Annotator: match by OMIM:607326
OMIM
ClinVar
PMID:12491225, PMID:16097008, PMID:18996921, PMID:19005420, PMID:25741868, PMID:28492532 NCBI chr18:70,996,074...71,313,033
Ensembl chr18:70,996,044...71,313,084
JBrowse link
G Rab33b RAB33B, member RAS oncogene family ISO
ISS
ClinVar Annotator: match by term: Smith-McCort dysplasia
OMIM:607326 | OMIM:615222
ClinVar
MouseDO
NCBI chr 2:140,541,619...140,552,220
Ensembl chr 2:140,541,619...140,552,220
JBrowse link
Smith-McCort Dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab33b RAB33B, member RAS oncogene family ISO ClinVar Annotator: match by OMIM:615222
ClinVar Annotator: match by term: Smith-McCort dysplasia 2
OMIM
ClinVar
PMID:16470731, PMID:22652534, PMID:23042644, PMID:25741868, PMID:28127940, PMID:28492532 NCBI chr 2:140,541,619...140,552,220
Ensembl chr 2:140,541,619...140,552,220
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Dyggve-Melchior-Clausen disease 2
        Smith-McCort dysplasia + 2
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            disease of mental health 6016
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    Dyggve-Melchior-Clausen disease 2
                      Smith-McCort 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.