Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:spondyloepimetaphyseal dysplasia, Sponastrime type
go back to main search page
Accession:DOID:5684 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance. (DO)
Synonyms:exact_synonym: Sponastrime dysplasia;   Spondylar and nasal Alterations-Striated Metaphyses syndrome;   Spondylar and nasal alterations with striated metaphyses;   TONSL-RELATED CONDITION;   skeletal dysplasia with extra-skeletal manifestations
 primary_id: MESH:C535786
 alt_id: OMIM:271510
 xref: NCI:C129031;   NCI:C92206
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
spondyloepimetaphyseal dysplasia, Sponastrime type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tonsl tonsoku-like, DNA repair protein ISO ClinVar Annotator: match by term: Sponastrime dysplasia | ClinVar Annotator: match by term: TONSL-related condition OMIM
ClinVar
PMID:9536098 PMID:10797420 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 7:108,345,704...108,360,792
Ensembl chr 7:108,346,047...108,360,750
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    Developmental Disease 13110
      bone development disease 1906
        osteochondrodysplasia 631
          spondyloepimetaphyseal dysplasia 77
            spondyloepimetaphyseal dysplasia, Sponastrime type 1
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      musculoskeletal system disease 7308
        connective tissue disease 5160
          bone disease 3834
            bone development disease 1906
              osteochondrodysplasia 631
                spondyloepimetaphyseal dysplasia 77
                  spondyloepimetaphyseal dysplasia, Sponastrime type 1
paths to the root