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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:0112297 term browser browse the term
Definition:A spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that has_material_basis_in heterozygous mutation in FN1 on chromosome 2q35. (DO)
Synonyms:exact_synonym: SMDCF;   Spondylometaphyseal Dysplasia, Sutcliffe Type
 primary_id: MESH:C535793
 alt_id: DOID:9000546;   OMIM:184255
 xref: GARD:4991;   ORDO:93315
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
ISS
ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type
OMIM:184255
ClinVar
MouseDO
PMID:7695699 PMID:8218237 PMID:10612821 PMID:17163530 PMID:19344236 More... NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    Wounds and Injuries 872
      Leg Injuries 39
        Tibial Fractures 15
          spondylometaphyseal dysplasia corner fracture type 2
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      musculoskeletal system disease 6418
        connective tissue disease 4422
          bone disease 3108
            bone development disease 1414
              osteochondrodysplasia 478
                spondylometaphyseal dysplasia 11
                  spondylometaphyseal dysplasia corner fracture type 2
paths to the root