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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
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Accession:DOID:9005329 term browser browse the term
Definition:Preaxial polydactyly, i.e., polydactyly on the radial side of the hand, is a heterogeneous category. Four types are: (1) thumb polydactyly, (2) polydactyly of triphalangeal thumb, (3) polydactyly of index finger, and (4) polysyndactyly. (OMIM)
Synonyms:xref: OMIM:PS174400
For additional species annotation, visit the Alliance of Genome Resources.


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Preaxial Polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: POLYDACTYLY, PREAXIAL ClinVar PMID:25741868 PMID:30620395 NCBI chr 7:70,620,794...70,633,171
Ensembl chr 7:70,620,766...70,630,338
JBrowse link
Guttmacher syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa13 homeo box A13 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:176305
OMIM
CTD
ClinVar
PMID:8484413 PMID:11968094 PMID:24239177 NCBI chr 4:82,313,383...82,315,550
Ensembl chr 4:82,228,017...82,229,397
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 polysyndactyly syndrome ClinVar PMID:17300748 PMID:18178630 PMID:18417549 NCBI chr 4:2,116,094...2,274,111
Ensembl chr 4:2,116,094...2,201,749
JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA:duplication:enhancer RGD PMID:18417549 RGD:12801418 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
Preaxial Polydactyly I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: Polydactyly, preaxial I OMIM
ClinVar
PMID:25741868 PMID:30620395 NCBI chr 7:70,620,794...70,633,171
Ensembl chr 7:70,620,766...70,630,338
JBrowse link
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: Triphalangeal thumb polysyndactyly syndrome
ClinVar Annotator: match by OMIM:174500
OMIM
ClinVar
PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 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
Preaxial Polydactyly IV term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Preaxial polydactyly 4
DNA:nonsense mutation:exon:p.R290X (C868T) (human)
DNA:nonsense mutation, deletion: :p.R792X (c.C2374T), c.3383delA (human)
OMIM
ClinVar
PMID:6641002 PMID:10441570 PMID:15739154 PMID:15811011 PMID:18435847 PMID:28492532, PMID:15811011, PMID:22903559 RGD:12738221, RGD:12738141 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
JBrowse link
G Zic3 Zic family member 3 ISO RGD PMID:22234993 RGD:12738220 NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    physical disorder 2959
      polydactyly 120
        Preaxial Polydactyly 7
          Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 0
          Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 0
          Guttmacher syndrome 1
          Preaxial Hallucal Polydactyly 0
          Preaxial Polydactyly I 1
          Preaxial Polydactyly II + 3
          Preaxial Polydactyly III 0
          Preaxial Polydactyly IV 2
Path 2
Term Annotations click to browse term
  disease 16929
    Developmental Disease 10581
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8889
        Congenital Abnormalities 5191
          Musculoskeletal Abnormalities 2135
            Congenital Limb Deformities 453
              polydactyly 120
                Preaxial Polydactyly 7
                  Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 0
                  Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 0
                  Guttmacher syndrome 1
                  Preaxial Hallucal Polydactyly 0
                  Preaxial Polydactyly I 1
                  Preaxial Polydactyly II + 3
                  Preaxial Polydactyly III 0
                  Preaxial Polydactyly IV 2
paths to the root