ONTOLOGY REPORT - ANNOTATIONS


Term:trichorhinophalangeal syndrome type III
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Accession:DOID:0080376 term browser browse the term
Definition:An autosomal dominant disease 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: DOID:9006825;   OMIM:190351;   RDO:0014513
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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 14823
    syndrome 4218
      Trichorhinophalangeal Syndrome 59
        trichorhinophalangeal syndrome type III 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      Skin and Connective Tissue Diseases 3903
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              osteochondrodysplasia 403
                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.