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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:Jarcho-Levin Syndrome
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Accession:DOID:9007004 term browser browse the term
Definition:A heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), misalignment of the ribs with variable points of intercostal fusion, and a broadly symmetric thoracic cage.
Synonyms:exact_synonym: DLL3-RELATED DISORDER;   SCDO1;   costovertebral dysplasia;   spondylocostal dysostosis 1, autosomal recessive;   spondylocostal dysplasia, recessive form;   spondylothoracic dysostosis
 primary_id: MESH:C537565
 alt_id: OMIM:277300;   RDO:0003429;   RDO:0008525
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Jarcho-Levin Syndrome 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 OMIM:277300
ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive
ClinVar Annotator: match by term: Jarcho-Levin syndrome
ClinVar
OMIM
PMID:2805381, PMID:10742114, PMID:12791036, PMID:15200511, PMID:15717203, PMID:18485326, PMID:25741868, PMID:28492532 NCBI chr 1:85,485,875...85,493,683
Ensembl chr 1:85,485,289...85,493,685
JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis
ClinVar Annotator: match by term: Jarcho-Levin syndrome
ClinVar PMID:25741868 NCBI chr 1:141,550,633...141,553,239
Ensembl chr 1:141,550,633...141,553,230
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 NCBI chr 1:85,386,492...85,399,699
Ensembl chr 1:85,386,470...85,399,699
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Jarcho-Levin Syndrome 3
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Urogenital Diseases 4142
        Female Urogenital Diseases and Pregnancy Complications 1893
          Female Urogenital Diseases 1587
            female reproductive system disease 1583
              prolapse of female genital organ 187
                enterocele 187
                  Diaphragmatic Hernia 118
                    Jarcho-Levin Syndrome 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.