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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:0060986 term browser browse the term
Definition:A polydactyly characterized by the presence of 3 phalanges within the thumb that has_material_basis_in heterozygous mutation in the ZRS, a regulatory element of SHH, on chromosome 7q36. (DO)
Synonyms:exact_synonym: POLYDACTYLY OF TRIPHALANGEAL THUMB;   PPD2;   TPT;   TPT-PS syndrome;   polydactyly of a triphalangeal thumb;   triphalangeal thumb with polydactyly
 broad_synonym: triphalangeal thumb
 alt_id: DOID:9007798
 xref: GARD:5289;   MIM:174500;   ORDO:93336


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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 term: Polydactyly of a triphalangeal thumb ClinVar PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 More... NCBI chr 4:6,649,824...6,820,525
Ensembl chr 4:5,974,750...6,146,368 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Polydactyly of a triphalangeal thumb ClinVar PMID:12204003 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Polydactyly of a triphalangeal thumb ClinVar
RGD		 PMID:25741868 PMID:20569257 PMID:18463159 RGD:12801447, RGD:12801448 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
Patterson Stevenson Syndrome 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-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome OMIM
ClinVar		 PMID:17300748 PMID:18178630 PMID:18417549 NCBI chr 4:6,649,824...6,820,525
Ensembl chr 4:5,974,750...6,146,368 		JBrowse link
G Rnf32 ring finger protein 32 ISO ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chr 4:6,822,700...6,884,411
Ensembl chr 4:6,149,841...6,209,257 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    physical disorder 5206
      Congenital Foot Deformities 192
        preaxial polydactyly II 4
          Patterson Stevenson Syndrome 3
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14674
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        Congenital Abnormalities 7894
          Musculoskeletal Abnormalities 3458
            Congenital Limb Deformities 1068
              polydactyly 383
                Preaxial Polydactyly 8
                  preaxial polydactyly II 4
                    Patterson Stevenson Syndrome 3
paths to the root