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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 PMID:8723097 PMID:9101290 PMID:10612821 PMID:11746045 PMID:14729840 PMID:15266623 PMID:15316962 PMID:15895462 PMID:17509551 PMID:17726487 PMID:19344236 PMID:23079993 PMID:24033266 PMID:25741868 PMID:25900302 PMID:26443184 PMID:28492532 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      bone development disease 1326
        osteochondrodysplasia 447
          spondyloperipheral dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal dominant disease 3709
                spondyloperipheral dysplasia 1
paths to the root