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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 2
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Accession:DOID:0081271 term browser browse the term
Definition:A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31. (DO)
Synonyms:exact_synonym: SMC2
 primary_id: OMIM:615222
 alt_id: DOID:9003257


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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		 ClinVar Annotator: match by term: Smith-McCort dysplasia 2
OMIM:615222		 OMIM
ClinVar
MouseDO		 PMID:16470731 PMID:22652534 PMID:23042644 PMID:25741868 PMID:28127940 More... NCBI chr 2:135,528,116...135,538,719
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 18969
    syndrome 10889
      Dyggve-Melchior-Clausen disease 2
        Smith-McCort dysplasia 2
          Smith-McCort dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  intellectual disability 4300
                    Dyggve-Melchior-Clausen disease 2
                      Smith-McCort dysplasia 2
                        Smith-McCort dysplasia 2 1
paths to the root