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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:omodysplasia 2
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Accession:DOID:0080845 term browser browse the term
Definition:An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21. (DO)
Synonyms:exact_synonym: OMOD2;   omodysplasia, autosomal dominant
 primary_id: MESH:C567664
 alt_id: OMIM:164745
For additional species annotation, visit the Alliance of Genome Resources.



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omodysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Omodysplasia 2
ClinVar Annotator: match by term: Autosomal dominant omodysplasia
ClinVar
OMIM
PMID:25759469 NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Pathological Conditions, Signs and Symptoms 10289
      Pathologic Processes 6728
        Disease Attributes 667
          Facies 328
            omodysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Skin and Connective Tissue Diseases 5863
        connective tissue disease 4447
          bone disease 3124
            bone development disease 1425
              osteochondrodysplasia 478
                omodysplasia 2
                  omodysplasia 2 1
paths to the root