Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
Accession:DOID:4998 term browser browse the term
Definition:A syndrome that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose. (DO)
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: MIM:150230
 xref: GARD:7801;   NCI:C75118;   ORDO:502
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 PMID:17301954 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 7:86,265,651...86,544,488
Ensembl chr 7:86,259,900...86,544,567 		JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Langer-Giedion syndrome | ClinVar Annotator: match by term: Trichorhinophalangeal syndrome type II 		CTD
ClinVar		 PMID:11112658 PMID:11708946 PMID:22964620 PMID:23451857 PMID:25741868 More... NCBI chr 7:83,806,121...84,032,609
Ensembl chr 7:83,811,497...84,031,786 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      Trichorhinophalangeal Syndrome 59
        trichorhinophalangeal syndrome type II 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Skin and Connective Tissue Diseases 7819
        connective tissue disease 5948
          bone disease 4398
            bone development disease 2345
              osteochondrodysplasia 839
                Trichorhinophalangeal Syndrome 59
                  trichorhinophalangeal syndrome type II 2
paths to the root