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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 DLL3 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
For additional species annotation, visit the Alliance of Genome Resources.



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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 Mesp2 mesoderm posterior bHLH transcription factor 2 ISS OMIM:277300 MouseDO NCBI chr 1:133,756,601...133,759,207
Ensembl chr 1:133,756,601...133,759,198
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 1:83,651,856...83,666,046
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 18109
    syndrome 9634
      spondylocostal dysostosis 1 3
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        peripheral nervous system disease 2989
          neuropathy 2780
            neuromuscular disease 2199
              muscular disease 1431
                diaphragm disease 118
                  Diaphragmatic Hernia 117
                    spondylocostal dysostosis 1 3
paths to the root