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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
 broad_synonym: DYM-RELATED CONDITION
 primary_id: MESH:C535726
 alt_id: MIM:223800;   MIM:304950
 xref: GARD:6295;   NCI:C124844


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndrome		 OMIM
CTD
ClinVar		 PMID:12161821 PMID:12491225 PMID:12554689 PMID:16097008 PMID:16199547 More... NCBI chr18:68,605,131...68,900,905
Ensembl chr18:68,605,185...68,900,903 		JBrowse link
Smith-McCort dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dym dymeclin ISO
ISS		 ClinVar Annotator: match by term: Smith-McCort dysplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD		 PMID:25741868 PMID:28492532 NCBI chr18:68,605,131...68,900,905
Ensembl chr18:68,605,185...68,900,903 		JBrowse link
G Rab33b RAB33B, member RAS oncogene family ISO ClinVar Annotator: match by term: Smith-McCort dysplasia ClinVar PMID:25741868 NCBI chr 2:137,678,953...137,689,581
Ensembl chr 2:135,528,116...135,538,719 		JBrowse link
Smith-McCort dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dym dymeclin ISO ClinVar Annotator: match by term: DYM-related condition | ClinVar Annotator: match by term: Smith-McCort dysplasia 1 ClinVar
OMIM		 PMID:12491225 PMID:16097008 PMID:18996921 PMID:19005420 PMID:25741868 More... NCBI chr18:68,605,131...68,900,905
Ensembl chr18:68,605,185...68,900,903 		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
ISS		 OMIM:615222
ClinVar Annotator: match by term: Smith-McCort dysplasia 2		 OMIM
MouseDO
ClinVar		 PMID:16470731 PMID:22652534 PMID:23042644 PMID:25741868 PMID:28127940 More... NCBI chr 2:137,678,953...137,689,581
Ensembl chr 2:135,528,116...135,538,719 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    syndrome 11372
      Dyggve-Melchior-Clausen disease 2
        Smith-McCort dysplasia + 2
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        central nervous system disease 12636
          brain disease 11855
            disease of mental health 8454
              developmental disorder of mental health 5648
                specific developmental disorder 4610
                  intellectual disability 4383
                    Dyggve-Melchior-Clausen disease 2
                      Smith-McCort dysplasia + 2
paths to the root