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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:trichodontoosseous syndrome
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Accession:DOID:0111565 term browser browse the term
Definition:A syndrome characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology that has_material_basis_in heterozygous mutation in DLX3 on chromosome 17q21.33. (DO)
Synonyms:exact_synonym: TDO;   TDO syndrome;   tricho-dento-osseous syndrome
 primary_id: MESH:C536549
 alt_id: OMIM:190320
 xref: GARD:7799;   ORDO:3352
For additional species annotation, visit the Alliance of Genome Resources.



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trichodontoosseous syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome OMIM
ClinVar
PMID:9467018 PMID:9783705 PMID:25741868 NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17427
    syndrome 8258
      trichodontoosseous syndrome 1
Path 2
Term Annotations click to browse term
  disease 17427
    disease of anatomical entity 16758
      nervous system disease 12204
        sensory system disease 5708
          mouth disease 806
            tooth disease 297
              teeth hard tissue disease 70
                dental enamel hypoplasia 62
                  trichodontoosseous syndrome 1
paths to the root