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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:spondylometaepiphyseal dysplasia, short limb-hand type
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Accession:DOID:0112196 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in DDR2 on chromosome 1q23.3. (DO)
Synonyms:exact_synonym: SMED Type II;   SMED type 2;   SMED, Short Limb-Abnormal Calcification Type;   SMED, Short Limb-Hand Type;   SMED-SL;   SMED-SL/AC;   spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome;   spondylometaepiphyseal dysplasia, short limb-abnormal calcification type
 primary_id: MESH:C564794
 alt_id: OMIM:271665
 xref: GARD:10616;   ORDO:93358
For additional species annotation, visit the Alliance of Genome Resources.


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spondylometaepiphyseal dysplasia, short limb-hand type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by OMIM:271665
ClinVar Annotator: match by term: Spondylometaepiphyseal dysplasia short limb-hand type
ClinVar Annotator: match by term: Smed short limb-abnormal calcification type
OMIM
ClinVar
PMID:8434618 PMID:8818447 PMID:19110212 PMID:20223752 PMID:25741868 PMID:28492532 NCBI chr13:88,311,639...88,436,561
Ensembl chr13:88,317,145...88,436,789
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      endocrine system disease 5713
        Dwarfism 488
          spondylometaepiphyseal dysplasia, short limb-hand type 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      musculoskeletal system disease 5637
        connective tissue disease 3651
          bone disease 2997
            bone development disease 1326
              osteochondrodysplasia 447
                spondyloepimetaphyseal dysplasia 78
                  spondylometaepiphyseal dysplasia, short limb-hand type 1
paths to the root