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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:Preaxial Polydactyly II
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Accession:DOID:9007798 term browser browse the term
Synonyms:exact_synonym: POLYDACTYLY OF TRIPHALANGEAL THUMB;   PPD2;   TPT;   TPT-PS syndrome;   triphalangeal thumb with polydactyly;   triphalangeal thumb-polysyndactyly syndrome
 broad_synonym: triphalangeal thumb
 primary_id: OMIM:174500
For additional species annotation, visit the Alliance of Genome Resources.


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Preaxial Polydactyly II 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 OMIM:174500
ClinVar Annotator: match by term: Triphalangeal thumb
ClinVar Annotator: match by term: Triphalangeal thumb polysyndactyly syndrome
OMIM
ClinVar
PMID:8012392, PMID:10937618, PMID:12837695, PMID:17152067, PMID:17300748, PMID:18178630, PMID:18417549, PMID:18463159, PMID:19519794, PMID:20569257, PMID:24777739, PMID:28492532 NCBI chr 4:2,116,094...2,274,111
Ensembl chr 4:2,116,094...2,201,749
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Polydactyly, preaxial II ClinVar PMID:12204003, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:20569257, PMID:18463159 RGD:12801447, RGD:12801448 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    physical disorder 985
      polydactyly 130
        Preaxial Polydactyly 8
          Preaxial Polydactyly II 3
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Musculoskeletal Abnormalities 1759
            Congenital Limb Deformities 504
              Lower Extremity Deformities, Congenital 129
                Congenital Foot Deformities 121
                  Preaxial Polydactyly II 3
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.