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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: MIM:PS174400



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Guttmacher syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa13 homeo box A13 ISO ClinVar Annotator: match by term: Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias | ClinVar Annotator: match by term: Guttmacher syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:24239177 PMID:25741868 PMID:28492532 NCBI chr 4:81,358,956...81,361,091
Ensembl chr 4:81,358,956...81,361,091
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:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:17300748 More... NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME ClinVar PMID:12204003 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Rnf32 ring finger protein 32 ISO ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome ClinVar PMID:18178630 NCBI chr 4:6,144,749...6,209,320
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 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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: FROMONT ANOMALY | ClinVar Annotator: match by term: Polydactyly, preaxial I OMIM
ClinVar
PMID:25741868 PMID:30620395 NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
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: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: Polydactyly, preaxial II ClinVar PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 More... NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Polydactyly, preaxial II ClinVar PMID:12204003 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:20569257 PMID:18463159 RGD:12801447, RGD:12801448 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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 DNA:nonsense mutation, deletion: :p.R792X (c.C2374T), c.3383delA (human)
DNA:nonsense mutation:exon:p.R290X (C868T) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Preaxial polydactyly 4
OMIM
CTD
ClinVar
RGD
PMID:6641002 PMID:10441570 PMID:15739154 PMID:15811011 PMID:24736735 More... RGD:12738141, RGD:12738221 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
JBrowse link
G Zic3 Zic family member 3 ISO RGD PMID:22234993 RGD:12738220 NCBI chr  X:136,123,662...136,129,627
Ensembl chr  X:136,124,026...136,134,746
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    physical disorder 4977
      polydactyly 367
        Preaxial Polydactyly 8
          Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 0
          Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 0
          Guttmacher syndrome 1
          Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 0
          Preaxial Hallucal Polydactyly 0
          Preaxial Polydactyly I 1
          Preaxial Polydactyly II + 4
          Preaxial Polydactyly III 0
          Preaxial Polydactyly IV 2
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14386
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13389
        Congenital Abnormalities 7592
          Musculoskeletal Abnormalities 3308
            Congenital Limb Deformities 1023
              polydactyly 367
                Preaxial Polydactyly 8
                  Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 0
                  Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 0
                  Guttmacher syndrome 1
                  Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 0
                  Preaxial Hallucal Polydactyly 0
                  Preaxial Polydactyly I 1
                  Preaxial Polydactyly II + 4
                  Preaxial Polydactyly III 0
                  Preaxial Polydactyly IV 2
paths to the root