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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:Smith-McCort dysplasia 1
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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


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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 chr18:42,427,493...42,842,450
Ensembl chr18:45,783,379...46,162,835 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15684
    syndrome 10219
      Dyggve-Melchior-Clausen disease 2
        Smith-McCort dysplasia 2
          Smith-McCort dysplasia 1 1
Path 2
Term Annotations click to browse term
  disease 15684
    disease of anatomical entity 15295
      nervous system disease 13320
        central nervous system disease 11953
          brain disease 11237
            disease of mental health 8126
              developmental disorder of mental health 5557
                specific developmental disorder 4522
                  intellectual disability 4332
                    Dyggve-Melchior-Clausen disease 2
                      Smith-McCort dysplasia 2
                        Smith-McCort dysplasia 1 1
paths to the root