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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 chr2A:71,000,096...71,030,306
Ensembl chr2A:72,113,859...72,143,612
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 4:114,914,052...114,926,300
Ensembl chr 4:126,067,897...126,070,029
JBrowse link
G CCND2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551
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 8:90,324,158...90,353,161
Ensembl chr 8:92,270,538...92,298,846
JBrowse link
G GLI3 GLI family zinc finger 3 ISO OMIM NCBI chr 7:42,004,965...42,280,772
Ensembl chr 7:42,056,565...42,322,865
JBrowse link
G IQCE IQ motif containing E ISO ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar PMID:31549751 NCBI chr 7:2,818,723...2,874,505
Ensembl chr 7:2,913,549...2,964,046
JBrowse link
G KIAA0825 KIAA0825 ortholog ISO ClinVar Annotator: match by term: Postaxial polydactyly type A1 ClinVar PMID:30982135 NCBI chr 5:20,755,995...21,216,208
Ensembl chr 5:20,930,543...21,352,509
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:6,296,597...6,376,197
Ensembl chr  X:13,611,304...13,664,512
JBrowse link
G RPGRIP1L RPGRIP1 like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13850
    physical disorder 2981
      polydactyly 118
        Postaxial Polydactyly 13
          Postaxial Polydactyly, Type A1 9
Path 2
Term Annotations click to browse term
  disease 13850
    Developmental Disease 10373
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8932
        Congenital Abnormalities 5448
          Musculoskeletal Abnormalities 2208
            Congenital Limb Deformities 440
              polydactyly 118
                Postaxial Polydactyly 13
                  Postaxial Polydactyly, Type A1 9
paths to the root