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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 chr 3:71,560,102...71,591,885
Ensembl chr 3:71,560,738...71,591,856
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 8:101,354,891...101,435,417
Ensembl chr 8:101,420,649...101,430,015
JBrowse link
G CCND2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571
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 4:42,957,848...42,985,482
Ensembl chr 4:42,957,712...42,985,459
JBrowse link
G GLI3 GLI family zinc finger 3 ISO OMIM NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,071...52,697,903
JBrowse link
G IQCE IQ motif containing E ISO ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar PMID:31549751 NCBI chr 3:1,861,487...1,903,107
Ensembl chr 3:1,861,200...1,903,036
JBrowse link
G KIAA0825 KIAA0825 ISO ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar PMID:30982135 NCBI chr 2:100,935,165...101,291,983
Ensembl chr 2:100,934,424...101,291,935
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:10,361,403...10,415,502 JBrowse link
G RPGRIP1L RPGRIP1 like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr 6:31,564,937...31,660,540
Ensembl chr 6:31,564,986...31,661,194
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13613
    physical disorder 2943
      polydactyly 116
        Postaxial Polydactyly 12
          Postaxial Polydactyly, Type A1 9
Path 2
Term Annotations click to browse term
  disease 13613
    Developmental Disease 10197
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8800
        Congenital Abnormalities 5345
          Musculoskeletal Abnormalities 2170
            Congenital Limb Deformities 435
              polydactyly 116
                Postaxial Polydactyly 12
                  Postaxial Polydactyly, Type A1 9
paths to the root