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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:Teebi hypertelorism syndrome 2
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Accession:DOID:0081074 term browser browse the term
Definition:A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the CDH11 gene on chromosome 16q21. (DO)
Synonyms:exact_synonym: TBHS2
 primary_id: OMIM:619736
 alt_id: DOID:9000320


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Teebi hypertelorism syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh11 cadherin 11 ISO ClinVar Annotator: match by term: Teebi hypertelorism syndrome 2 ClinVar
OMIM		 PMID:33811546 NCBI chr19:2,148,447...2,305,754
Ensembl chr19:2,148,458...2,304,272 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      Teebi hypertelorism syndrome 3
        Teebi hypertelorism syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        Congenital Abnormalities 7578
          Musculoskeletal Abnormalities 3302
            Congenital Limb Deformities 1022
              Congenital Upper Extremity Deformities 214
                Congenital Hand Deformities 185
                  Teebi hypertelorism syndrome 3
                    Teebi hypertelorism syndrome 2 1
paths to the root