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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: 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: OMIM:174200;   RDO:0012159
For additional species annotation, visit the Alliance of Genome Resources.


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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: Postaxial polydactyly type A1 ClinVar PMID:31549751 NCBI chrNW_004955424:14,256,096...14,281,572
Ensembl chrNW_004955424:14,256,096...14,282,410
JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar PMID:17160889 PMID:23591405 PMID:25741868 PMID:28492532 PMID:30614526 NCBI chrNW_004955428:17,957,672...17,966,638
Ensembl chrNW_004955428:17,958,750...17,960,873
JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chrNW_004955413:2,083,351...2,108,450
Ensembl chrNW_004955413:2,083,351...2,103,430
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:30395363 NCBI chrNW_004955417:10,060,500...10,080,119
Ensembl chrNW_004955417:10,059,844...10,079,192
JBrowse link
G Gli3 GLI family zinc finger 3 ISO OMIM NCBI chrNW_004955460:1,528,457...1,805,584
Ensembl chrNW_004955460:1,528,412...1,805,918
JBrowse link
G Iqce IQ motif containing E ISO ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar PMID:31549751 NCBI chrNW_004955460:12,676,649...12,724,613 JBrowse link
G Kiaa0825 KIAA0825 ortholog ISO ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar PMID:30982135 NCBI chrNW_004955418:17,818,641...18,203,402
Ensembl chrNW_004955418:17,851,078...17,995,990
JBrowse link
G Ofd1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar PMID:25741868 NCBI chrNW_004955519:4,433,747...4,470,842
Ensembl chrNW_004955519:4,433,855...4,471,070
JBrowse link
G Rpgrip1l RPGRIP1 like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chrNW_004955433:11,321,504...11,423,981
Ensembl chrNW_004955433:11,322,590...11,424,569
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12691
    physical disorder 2873
      polydactyly 116
        Postaxial Polydactyly 12
          Postaxial Polydactyly, Type A1 9
Path 2
Term Annotations click to browse term
  disease 12691
    Developmental Disease 9631
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8379
        Congenital Abnormalities 5111
          Musculoskeletal Abnormalities 2126
            Congenital Limb Deformities 428
              polydactyly 116
                Postaxial Polydactyly 12
                  Postaxial Polydactyly, Type A1 9
paths to the root