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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
 primary_id: MESH:C535786
 alt_id: OMIM: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 OMIM
ClinVar
PMID:10797420, PMID:25741868, PMID:30773277, PMID:30773278 NCBI chr 7:117,688,397...117,703,139
Ensembl chr 7:117,688,397...117,703,094
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      bone development disease 1336
        osteochondrodysplasia 445
          spondyloepimetaphyseal dysplasia 75
            spondyloepimetaphyseal dysplasia, Sponastrime type 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      musculoskeletal system disease 5737
        connective tissue disease 4096
          bone disease 3526
            bone development disease 1336
              osteochondrodysplasia 445
                spondyloepimetaphyseal dysplasia 75
                  spondyloepimetaphyseal dysplasia, Sponastrime type 1
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.