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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.


show annotations for term's descendants           Sort by:
 
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 IAGP ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar PMID:31549751 NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431
JBrowse link
G BBS12 Bardet-Biedl syndrome 12 IAGP ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar PMID:17160889 PMID:23591405 PMID:25741868 PMID:28492532 PMID:30614526 NCBI chr 4:122,700,437...122,744,943
Ensembl chr 4:122,732,702...122,744,942
JBrowse link
G CCND2 cyclin D2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
JBrowse link
G CIBAR1 CBY1 interacting BAR domain containing 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Postaxial polydactyly type A
CTD
ClinVar
PMID:30395363 NCBI chr 8:93,700,550...93,731,527
Ensembl chr 8:93,698,561...93,731,527
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP DNA:deletion, duplication, nonsense mutation: :c.1927C>T, c.3855dupC, c.4141delA (human)
ClinVar Annotator: match by term: Postaxial polydactyly, type A1/B
ClinVar Annotator: match by term: Postaxial polydactyly type A1
ClinVar Annotator: match by term: Postaxial polydactyly, type a1/b
ClinVar Annotator: match by term: Postaxial polydactyly B
DNA:nonsense mutation: :p.K778X (human)
ClinVar
OMIM
PMID:9354785 PMID:10441342 PMID:10441570 PMID:12794692 PMID:15739154 More... RGD:12738211, RGD:12738223 NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G IQCE IQ motif containing E IAGP ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar PMID:31549751 NCBI chr 7:2,558,978...2,614,729
Ensembl chr 7:2,558,972...2,614,733
JBrowse link
G KIAA0825 KIAA0825 IAGP ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar PMID:30982135 NCBI chr 5:94,150,851...94,618,604
Ensembl chr 5:94,150,851...94,618,604
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar PMID:25741868 NCBI chr  X:13,734,726...13,773,978
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20257
    physical disorder 3503
      polydactyly 138
        Postaxial Polydactyly 13
          Postaxial Polydactyly, Type A1 9
Path 2
Term Annotations click to browse term
  disease 20257
    Developmental Disease 13769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11279
        Congenital Abnormalities 6748
          Musculoskeletal Abnormalities 2608
            Congenital Limb Deformities 519
              polydactyly 138
                Postaxial Polydactyly 13
                  Postaxial Polydactyly, Type A1 9
paths to the root