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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:Triphalangeal Thumb
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Accession:DOID:9001425 term browser browse the term
Synonyms:primary_id: MESH:C573898;   RDO:0015779
For additional species annotation, visit the Alliance of Genome Resources.


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Triphalangeal Thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Triphalangeal thumb ClinVar PMID:10937618, PMID:12837695, PMID:17152067, PMID:18463159, PMID:24777739 NCBI chr 4:2,116,094...2,274,111
Ensembl chr 4:2,116,094...2,201,749
JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Triphalangeal thumb ClinVar PMID:25741868, PMID:31010896 NCBI chr16:71,046,475...71,057,883
Ensembl chr16:71,046,475...71,057,883
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        Hand Deformities 78
          Congenital Hand Deformities 74
            Triphalangeal Thumb 2
              Triphalangeal Thumb Non Opposable 0
              Triphalangeal Thumb with Double Phalanges 0
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        Congenital Abnormalities 4785
          Musculoskeletal Abnormalities 1777
            Congenital Limb Deformities 510
              Congenital Upper Extremity Deformities 90
                Congenital Hand Deformities 74
                  Triphalangeal Thumb 2
                    Triphalangeal Thumb Non Opposable 0
                    Triphalangeal Thumb with Double Phalanges 0
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.