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ONTOLOGY REPORT - ANNOTATIONS


Term:trichorhinophalangeal syndrome type III
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Accession:DOID:0080376 term browser browse the term
Definition:A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23. (DO)
Synonyms:exact_synonym: Sugio-Kajii syndrome;   TRPS3;   trichorhinophalangeal syndrome type 3
 primary_id: MESH:C566033
 alt_id: OMIM:190351
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trichorhinophalangeal syndrome type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trps1 transcriptional repressor GATA binding 1 JBrowse link 7 90,085,895 90,320,430 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 16017
    syndrome 6141
      Trichorhinophalangeal Syndrome 59
        trichorhinophalangeal syndrome type III 1
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      Skin and Connective Tissue Diseases 5365
        connective tissue disease 4002
          bone disease 3466
            bone development disease 1259
              osteochondrodysplasia 430
                Trichorhinophalangeal Syndrome 59
                  trichorhinophalangeal syndrome type III 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.