ONTOLOGY REPORT - ANNOTATIONS


Term:trichorhinophalangeal syndrome type II
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Accession:DOID:4998 term browser browse the term
Definition:Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE).
Synonyms:exact_synonym: CHROMOSOME 8q24.1 DELETION SYNDROME;   LGS;   Langer-Giedion syndrome;   TRPS2;   TRPSII;   Tricho Rhino Phalangeal Syndrome Type II;   acrodysplasia V;   trichorhinophalangeal dysplasia type II;   trichorhinophalangeal syndrome type 2;   trichorhinophalangeal syndrome with exostoses
 primary_id: MESH:D015826
 alt_id: OMIM:150230;   RDO:0002514
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trichorhinophalangeal syndrome type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ext1 exostosin glycosyltransferase 1 JBrowse link 7 92,605,008 92,881,392 RGD:8554872
RGD:7240710
G Trps1 transcriptional repressor GATA binding 1 JBrowse link 7 90,085,895 90,320,430 RGD:11554173

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Path 1
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  disease 14823
    syndrome 4218
      Trichorhinophalangeal Syndrome 59
        trichorhinophalangeal syndrome type II 2
Path 2
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  disease 14823
    disease of anatomical entity 13997
      musculoskeletal system disease 3984
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              osteochondrodysplasia 403
                Trichorhinophalangeal Syndrome 59
                  trichorhinophalangeal syndrome type II 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.