Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:Smith-McCort dysplasia 1
go back to main search page
Accession:DOID:0081270 term browser browse the term
Definition:A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21. (DO)
Synonyms:exact_synonym: SMC1
 broad_synonym: DYM-RELATED CONDITION
 primary_id: OMIM:607326
 alt_id: DOID:9001494

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
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 chr18:31,513,665...31,902,064
Ensembl chr18:31,513,735...31,901,811 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15272
    syndrome 9980
      Dyggve-Melchior-Clausen disease 2
        Smith-McCort dysplasia 2
          Smith-McCort dysplasia 1 1
Path 2
Term Annotations click to browse term
  disease 15272
    disease of anatomical entity 14892
      nervous system disease 12970
        central nervous system disease 11623
          brain disease 10912
            disease of mental health 7850
              developmental disorder of mental health 5362
                specific developmental disorder 4392
                  intellectual disability 4203
                    Dyggve-Melchior-Clausen disease 2
                      Smith-McCort dysplasia 2
                        Smith-McCort dysplasia 1 1
paths to the root