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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 III
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Accession:DOID:0080376 term browser browse the term
Definition:A syndrome 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: OMIM:190351
For additional species annotation, visit the Alliance of Genome Resources.


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trichorhinophalangeal syndrome type III term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by OMIM:190351
ClinVar Annotator: match by term: TRICHORHINOPHALANGEAL SYNDROME, TYPE III
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome type 3
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III
OMIM
ClinVar
PMID:11112658, PMID:11807863, PMID:11950061, PMID:14560312, PMID:18946009, PMID:19694891, PMID:21850686, PMID:22964620, PMID:23451857, PMID:24502542, PMID:25741868, PMID:25792522, PMID:26113321, PMID:27826100, PMID:28050602, PMID:28170084, PMID:28468609, PMID:28492532, PMID:30541476 NCBI chr 7:90,085,895...90,320,430
Ensembl chr 7:90,090,828...90,318,221
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Trichorhinophalangeal Syndrome 59
        trichorhinophalangeal syndrome type III 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Skin and Connective Tissue Diseases 5471
        connective tissue disease 4096
          bone disease 3526
            bone development disease 1336
              osteochondrodysplasia 445
                Trichorhinophalangeal Syndrome 59
                  trichorhinophalangeal syndrome type III 1
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.