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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:axial spondylometaphyseal dysplasia
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Accession:DOID:0112299 term browser browse the term
Definition:A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP410 gene on chromosome 21q22.3. (DO)
Synonyms:exact_synonym: SMD, axial;   SMDAX;   SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL
 broad_synonym: CFAP410-RELATED CONDITION
 primary_id: MESH:C535795
 alt_id: DOID:9006983;   OMIM:602271
 xref: GARD:8720;   ORDO:168549


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axial spondylometaphyseal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Axial spondylometaphyseal dysplasia OMIM
ClinVar		 PMID:11702989 PMID:20503334 PMID:21910225 PMID:23105016 PMID:25741868 More... NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      bone development disease 2307
        osteochondrodysplasia 861
          spondylometaphyseal dysplasia 14
            axial spondylometaphyseal dysplasia 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              osteochondrodysplasia 861
                spondylometaphyseal dysplasia 14
                  axial spondylometaphyseal dysplasia 1
paths to the root