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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 the DDR2 gene 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
 broad_synonym: DDR2-RELATED CONDITION
 xref: GARD:10616;   MESH:C564794;   MIM:271665;   MONDO:0010077;   ORDO:93358


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DDR2-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome		 OMIM
CTD
ClinVar		 PMID:8434618 PMID:8818447 PMID:11375938 PMID:19110212 PMID:20223752 More... NCBI chr13:84,726,412...84,851,032
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      endocrine system disease 7041
        Dwarfism 877
          spondylometaepiphyseal dysplasia, short limb-hand type 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      Skin and Connective Tissue Diseases 7775
        connective tissue disease 5919
          bone disease 4369
            bone development disease 2387
              osteochondrodysplasia 882
                spondyloepimetaphyseal dysplasia 90
                  spondylometaepiphyseal dysplasia, short limb-hand type 1
paths to the root