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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:spondylocostal dysostosis 1
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Accession:DOID:0112365 term browser browse the term
Definition:A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the DLL3 gene on chromosome 19q13.2. (DO)
Synonyms:exact_synonym: DLL3-related disorder;   Jarcho-Levin syndrome;   SCDO1;   autosomal recessive spondylocostal dysostosis 1;   costovertebral dysplasia;   spondylocostal dysplasia, recessive form;   spondylothoracic dysostosis
 primary_id: MESH:C537565
 alt_id: DOID:9007004;   OMIM:277300


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spondylocostal dysostosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive OMIM
ClinVar		 PMID:2805381 PMID:10742114 PMID:12746394 PMID:12791036 PMID:15200511 More... NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750 		JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    syndrome 10725
      spondylocostal dysostosis 1 2
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      nervous system disease 14004
        peripheral nervous system disease 4075
          neuropathy 3862
            neuromuscular disease 3038
              muscular disease 2122
                diaphragm disease 121
                  Diaphragmatic Hernia 120
                    spondylocostal dysostosis 1 2
paths to the root