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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:Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
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Accession:DOID:9000546 term browser browse the term
Synonyms:exact_synonym: SMDCF;   Spondylometaphyseal Dysplasia, Sutcliffe Type
 primary_id: MESH:C535793
 alt_id: OMIM:184255;   RDO:0001100
For additional species annotation, visit the Alliance of Genome Resources.


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Spondylometaphyseal Dysplasia, 'Corner Fracture' Type 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 term: Spondylometaphyseal dysplasia - Sutcliffe type ClinVar PMID:7695699, PMID:8218237, PMID:10612821, PMID:17163530, PMID:19344236, PMID:26443184, PMID:26626311, PMID:27888646, PMID:28492532, PMID:32200603 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type ClinVar
OMIM
PMID:1677003, PMID:15666313, PMID:25741868, PMID:29100092, PMID:32200603 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      bone development disease 1330
        osteochondrodysplasia 435
          Spondylometaphyseal Dysplasia, 'Corner Fracture' Type 2
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4072
          bone disease 3527
            bone development disease 1330
              osteochondrodysplasia 435
                Spondylometaphyseal Dysplasia, 'Corner Fracture' Type 2
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.