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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 Aard alanine and arginine rich domain containing protein ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:83,364,478...83,369,319
Ensembl chr 7:83,364,204...83,369,317
JBrowse link
G Ccn3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:86,094,000...86,101,022
Ensembl chr 7:86,094,000...86,101,019
JBrowse link
G Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:85,744,895...85,806,368
Ensembl chr 7:85,744,895...85,805,675
JBrowse link
G Eif3h eukaryotic translation initiation factor 3, subunit H ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:83,091,045...83,174,436
Ensembl chr 7:83,091,039...83,174,451
JBrowse link
G Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:86,202,345...86,325,050
Ensembl chr 7:86,202,350...86,324,827
JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357
JBrowse link
G Mal2 mal, T-cell differentiation protein 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:85,900,453...85,933,433
Ensembl chr 7:85,900,453...85,933,429
JBrowse link
G Med30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:84,004,710...84,028,064
Ensembl chr 7:84,004,722...84,026,595
JBrowse link
G Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817
JBrowse link
G Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:84,768,850...85,064,057
Ensembl chr 7:84,768,254...85,271,766
JBrowse link
G Slc30a8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:83,591,993...83,627,786
Ensembl chr 7:83,591,993...83,626,305
JBrowse link
G Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:86,422,613...86,479,616
Ensembl chr 7:86,422,613...86,479,616
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III OMIM
ClinVar
PMID:9536098 PMID:10615131 PMID:10679937 PMID:11112658 PMID:11391482 More... NCBI chr 7:81,916,668...82,142,733
Ensembl chr 7:81,921,601...82,141,905
JBrowse link
G Utp23 UTP23, small subunit processome component ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 More... NCBI chr 7:83,185,187...83,196,652
Ensembl chr 7:83,189,656...83,196,655
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      Trichorhinophalangeal Syndrome 59
        trichorhinophalangeal syndrome type III 15
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        Congenital Abnormalities 6484
          Musculoskeletal Abnormalities 2678
            Congenital Limb Deformities 588
              Congenital Upper Extremity Deformities 122
                Congenital Hand Deformities 94
                  trichorhinophalangeal syndrome type III 15
paths to the root