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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:Postaxial Polydactyly, Type A1
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Accession:DOID:9003488 term browser browse the term
Synonyms:exact_synonym: GLI3-RELATED POSTAXIAL POLYDACTYLY;   PAPA;   PAPA1;   Postaxial Polydactyly B;   Postaxial Polydactyly, Type A;   Postaxial Polydactyly, Type A1/B;   Postaxial Polydactyly, Type B
 narrow_synonym: PAPB
 primary_id: MESH:C562429
 alt_id: MIM:174200;   RDO:0012159


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Postaxial Polydactyly, Type A1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 ClinVar PMID:9916796 PMID:16199547 PMID:16611712 PMID:18368028 PMID:25285676 More... NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475 		JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 ClinVar PMID:17160889 PMID:23591405 PMID:25741868 PMID:28492532 PMID:30614526 NCBI chr 2:120,203,396...120,221,024
Ensembl chr 2:120,203,428...120,219,255 		JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
G Cibar1 CBY1 interacting BAR domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Postaxial polydactyly type A		 CTD
ClinVar		 PMID:25741868 PMID:30395363 NCBI chr 5:25,613,993...25,632,440
Ensembl chr 5:25,614,033...25,632,489 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO DNA:deletion, duplication, nonsense mutation: :c.1927C>T, c.3855dupC, c.4141delA (human)
DNA:nonsense mutation: :p.K778X (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GLI3-related postaxial polydactyly | ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 | ClinVar Annotator: match by term: Postaxial polydactyly type B | ClinVar Annotator: match by term: Postaxial polydactyly, type A1/B		 OMIM
CTD
ClinVar
RGD		 PMID:9354785 PMID:10441342 PMID:10441570 PMID:12794692 PMID:15739154 More... RGD:12738211, RGD:12738223 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712 		JBrowse link
G Iqce IQ motif containing E ISO ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 ClinVar PMID:25741868 PMID:31549751 NCBI chr12:13,943,290...13,982,708
Ensembl chr12:13,943,487...13,982,693 		JBrowse link
G Kiaa0825 KIAA0825 homolog ISO ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 ClinVar PMID:30982135 NCBI chr 2:6,874,474...7,437,032
Ensembl chr 2:6,874,539...7,434,521 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 ClinVar PMID:25741868 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    physical disorder 5180
      polydactyly 380
        Postaxial Polydactyly 16
          Postaxial Polydactyly, Type A1 9
Path 2
Term Annotations click to browse term
  disease 19100
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        Congenital Abnormalities 7780
          Musculoskeletal Abnormalities 3440
            Congenital Limb Deformities 1063
              polydactyly 380
                Postaxial Polydactyly 16
                  Postaxial Polydactyly, Type A1 9
paths to the root