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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 2210408I21Rik RIKEN cDNA 2210408I21 gene ISO ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar PMID:30982135 NCBI chr13:77,135,531...77,613,785
Ensembl chr13:77,135,540...77,613,784
JBrowse link
G Atp6v1b1 ATPase, H+ transporting, lysosomal V1 subunit B1 ISO ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar PMID:31549751 NCBI chr 6:83,743,017...83,758,855
Ensembl chr 6:83,742,990...83,758,855
JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 (human) ISO ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar PMID:17160889 PMID:23591405 PMID:25741868 PMID:28492532 PMID:30614526 NCBI chr 3:37,312,547...37,321,450
Ensembl chr 3:37,312,554...37,321,453
JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr 6:127,125,162...127,152,188
Ensembl chr 6:127,125,162...127,152,193
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 4:12,153,142...12,172,023
Ensembl chr 4:12,153,409...12,172,015
JBrowse link
G Gli3 GLI-Kruppel family member GLI3 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 More... RGD:12738211, RGD:12738223 NCBI chr13:15,463,723...15,730,026
Ensembl chr13:15,463,235...15,730,026
JBrowse link
G Iqce IQ motif containing E ISO ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar PMID:31549751 NCBI chr 5:140,662,553...140,702,403
Ensembl chr 5:140,661,827...140,702,378
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:166,386,573...166,440,704
Ensembl chr  X:166,390,033...166,440,704
JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr 8:91,217,030...91,313,291
Ensembl chr 8:91,217,030...91,313,262
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14517
    physical disorder 3106
      polydactyly 119
        Postaxial Polydactyly 12
          Postaxial Polydactyly, Type A1 9
Path 2
Term Annotations click to browse term
  disease 14517
    Developmental Disease 10790
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9308
        Congenital Abnormalities 5613
          Musculoskeletal Abnormalities 2259
            Congenital Limb Deformities 454
              polydactyly 119
                Postaxial Polydactyly 12
                  Postaxial Polydactyly, Type A1 9
paths to the root