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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:spondyloepimetaphyseal dysplasia, Sponastrime type
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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: MIM:271510
 xref: NCI:C129031;   NCI:C92206
For additional species annotation, visit the Alliance of Genome Resources.


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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: Spondylar and nasal alterations with striated metaphyses | 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 19099
    Developmental Disease 14598
      bone development disease 2373
        osteochondrodysplasia 869
          spondyloepimetaphyseal dysplasia 88
            spondyloepimetaphyseal dysplasia, Sponastrime type 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      musculoskeletal system disease 8488
        connective tissue disease 5958
          bone disease 4411
            bone development disease 2373
              osteochondrodysplasia 869
                spondyloepimetaphyseal dysplasia 88
                  spondyloepimetaphyseal dysplasia, Sponastrime type 1
paths to the root