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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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: LGS;   Langer-Giedion syndrome;   TRPS2;   TRPSII;   acrodysplasia V;   chromosome 8q24.1 deletion syndrome;   tricho rhino phalangeal syndrome type II;   trichorhinophalangeal dysplasia type II;   trichorhinophalangeal syndrome type 2;   trichorhinophalangeal syndrome with exostoses
 primary_id: MESH:D015826
 alt_id: OMIM:150230
 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Langer-Giedion syndrome ClinVar
OMIM
PMID:17301954, PMID:24728327 NCBI chr 7:92,605,008...92,881,392
Ensembl chr 7:92,605,728...92,882,068
JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Langer-Giedion syndrome
CTD
ClinVar
PMID:11112658, PMID:11708946, PMID:22964620, PMID:23451857, PMID:25741868, PMID:25792522, PMID:28050602, PMID:28492532 NCBI chr 7:90,085,895...90,320,430
Ensembl chr 7:90,090,828...90,318,221
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Trichorhinophalangeal Syndrome 59
        trichorhinophalangeal syndrome type II 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              osteochondrodysplasia 445
                Trichorhinophalangeal Syndrome 59
                  trichorhinophalangeal syndrome type II 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.