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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:9000026 term browser browse the term
Synonyms:exact_synonym: Familial spondyloepiphyseal dysplasia;   spondyloperipheral dysplasia with short ulna;   spondyloperipheral dysplasia, short ulna
 primary_id: MESH:C535799;   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
OMIM
ClinVar
PMID:1971141, PMID:7550321, PMID:7695699, PMID:7752132, PMID:8218237, PMID:8325895, PMID:8723097, PMID:9101290, PMID:9724608, PMID:10353778, PMID:10612821, PMID:11746045, PMID:12848929, PMID:12925722, PMID:14729840, PMID:15266623, PMID:15316962, PMID:15895462, PMID:17509551, PMID:17726487, PMID:19344236, PMID:20179744, PMID:20513134, PMID:22791362, PMID:23079993, PMID:24033266, PMID:25604898, PMID:25741868, PMID:25900302, PMID:26250472, PMID:26345137, PMID:26358419, PMID:26443184, PMID:26626311, PMID:28492532 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      bone development disease 1330
        osteochondrodysplasia 435
          Spondyloperipheral Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              osteochondrodysplasia 435
                Spondyloperipheral Dysplasia 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.