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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:spondyloperipheral dysplasia
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Accession:DOID:0112195 term browser browse the term
Definition:An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11. (DO)
Synonyms:exact_synonym: familial spondyloepiphyseal dysplasia;   spondyloperipheral dysplasia with short ulna;   spondyloperipheral dysplasia, short ulna;   spondyloperipheral dysplasia-short ulna syndrome
 primary_id: MESH:C535799
 alt_id: OMIM:271700
 xref: NCI:C135088;   ORDO:1856
For additional species annotation, visit the Alliance of Genome Resources.



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spondyloperipheral dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by OMIM:271700
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Spondyloperipheral dysplasia
ClinVar Annotator: match by term: Spondyloperipheral dysplasia with short ulna
ClinVar Annotator: match by term: Spondyloperipheral dysplasia-short ulna syndrome
OMIM
ClinVar
PMID:7550321 PMID:7695699 PMID:7752132 PMID:8218237 PMID:8325895 More... NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Developmental Disease 11029
      bone development disease 1423
        osteochondrodysplasia 482
          spondyloperipheral dysplasia 1
Path 2
Term Annotations click to browse term
  disease 17445
    Developmental Disease 11029
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9553
        genetic disease 9078
          monogenic disease 7230
            autosomal genetic disease 6357
              autosomal dominant disease 4483
                spondyloperipheral dysplasia 1
paths to the root