Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 ISO ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar PMID:31549751 NCBI chr 4:115,417,100...115,435,754
Ensembl chr 4:115,416,580...115,437,206
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 chr 2:124,048,513...124,057,026
Ensembl chr 2:124,054,282...124,056,795
JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207
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 chr 5:25,732,457...25,750,953
Ensembl chr 5:25,732,644...25,750,826
JBrowse link
G Gli3 GLI family zinc finger 3 ISO 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:deletion, duplication, nonsense mutation: :c.1927C>T, c.3855dupC, c.4141delA (human)
DNA:nonsense mutation: :p.K778X (human)
ClinVar Annotator: match by OMIM:174200
OMIM
ClinVar
PMID:9354785 PMID:10441342 PMID:10441570 PMID:12794692 PMID:15739154 PMID:18000979 PMID:22428873 PMID:24736735 PMID:25741868 PMID:26508445 PMID:28315472 PMID:28492532, PMID:24667698, PMID:9354785 RGD:12738211, RGD:12738223 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
JBrowse link
G Iqce IQ motif containing E ISO ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar PMID:31549751 NCBI chr12:16,030,607...16,069,872
Ensembl chr12:15,857,805...16,067,924
JBrowse link
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar PMID:25741868 NCBI chr  X:29,562,165...29,602,934
Ensembl chr  X:29,562,165...29,602,925
JBrowse link
G RGD1560883 similar to KIAA0825 protein ISO ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar PMID:30982135 NCBI chr 2:4,195,871...4,755,065
Ensembl chr 2:4,195,917...4,754,318
JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    physical disorder 3082
      polydactyly 122
        Postaxial Polydactyly 12
          Postaxial Polydactyly, Type A1 9
Path 2
Term Annotations click to browse term
  disease 17150
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9451
        Congenital Abnormalities 5579
          Musculoskeletal Abnormalities 2238
            Congenital Limb Deformities 456
              polydactyly 122
                Postaxial Polydactyly 12
                  Postaxial Polydactyly, Type A1 9
paths to the root