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ONTOLOGY REPORT - ANNOTATIONS


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
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trichodontoosseous syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dlx3 distal-less homeobox 3 JBrowse link 10 82,937,971 82,943,367 RGD:7240710
RGD:8554872

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Path 1
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  disease 15610
    syndrome 5800
      trichodontoosseous syndrome 1
Path 2
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  disease 15610
    disease of anatomical entity 14968
      nervous system disease 10400
        sensory system disease 4770
          mouth disease 689
            tooth disease 245
              teeth hard tissue disease 39
                dental enamel hypoplasia 31
                  trichodontoosseous syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.