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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
 xref: NCI:C75118
For additional species annotation, visit the Alliance of Genome Resources.


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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Trichorhinophalangeal Syndrome 59
        trichorhinophalangeal syndrome type II 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              osteochondrodysplasia 408
                Trichorhinophalangeal Syndrome 59
                  trichorhinophalangeal syndrome type II 2
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