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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
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Accession:DOID:9003071 term browser browse the term
Synonyms:narrow_synonym: AUTOSOMAL RECESSIVE NONSYNDROMIC POSTAXIAL POLYDACTYLY
 xref: OMIM:PS174200
For additional species annotation, visit the Alliance of Genome Resources.


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Postaxial Polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL11A BAF chromatin remodeling complex subunit BCL11A ISO ClinVar Annotator: match by term: Postaxial polydactyly ClinVar PMID:25741868 NCBI chr 3:81,195,217...81,296,165
Ensembl chr 3:81,196,294...81,296,165
JBrowse link
G KIAA0825 KIAA0825 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic postaxial polydactyly ClinVar PMID:30982135 NCBI chr 2:100,935,165...101,291,983
Ensembl chr 2:100,934,424...101,291,935
JBrowse link
Guttmacher syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXA13 homeobox A13 ISO OMIM NCBI chr18:45,373,340...45,379,046
Ensembl chr18:45,373,440...45,380,300
JBrowse link
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:25741868 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
Postaxial Polydactyly, Type A10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIAA0825 KIAA0825 ISO OMIM NCBI chr 2:100,935,165...101,291,983
Ensembl chr 2:100,934,424...101,291,935
JBrowse link
Postaxial Polydactyly, Type A7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IQCE IQ motif containing E ISO OMIM NCBI chr 3:1,861,487...1,903,107
Ensembl chr 3:1,861,200...1,903,036
JBrowse link
Postaxial Polydactyly, Type A8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI1 GLI family zinc finger 1 ISO OMIM NCBI chr 5:22,736,325...22,747,421
Ensembl chr 5:22,732,516...22,747,421
JBrowse link
Postaxial Polydactyly, Type A9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIBAR1 CBY1 interacting BAR domain containing 1 ISO OMIM NCBI chr 4:42,957,848...42,985,482
Ensembl chr 4:42,957,712...42,985,459
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13598
    physical disorder 2936
      polydactyly 114
        Postaxial Polydactyly 12
          Cortical Blindness, Retardation, and Postaxial Polydactyly 0
          Dandy Walker Malformation Postaxial Polydactyly 0
          Guttmacher syndrome 1
          Oliver Syndrome 0
          Postaxial Polydactyly, Type A1 9
          Postaxial Polydactyly, Type A10 1
          Postaxial Polydactyly, Type A2 0
          Postaxial Polydactyly, Type A3 0
          Postaxial Polydactyly, Type A4 0
          Postaxial Polydactyly, Type A5 0
          Postaxial Polydactyly, Type A6 0
          Postaxial Polydactyly, Type A7 1
          Postaxial Polydactyly, Type A8 1
          Postaxial Polydactyly, Type A9 1
          Postaxial Polydactyly, with Dental and Vertebral Anomalies 0
          Scalp Defects, Postaxial Polydactyly 0
          Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia 0
Path 2
Term Annotations click to browse term
  disease 13598
    Developmental Disease 10222
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8812
        Congenital Abnormalities 5335
          Musculoskeletal Abnormalities 2163
            Congenital Limb Deformities 434
              polydactyly 114
                Postaxial Polydactyly 12
                  Cortical Blindness, Retardation, and Postaxial Polydactyly 0
                  Dandy Walker Malformation Postaxial Polydactyly 0
                  Guttmacher syndrome 1
                  Oliver Syndrome 0
                  Postaxial Polydactyly, Type A1 9
                  Postaxial Polydactyly, Type A10 1
                  Postaxial Polydactyly, Type A2 0
                  Postaxial Polydactyly, Type A3 0
                  Postaxial Polydactyly, Type A4 0
                  Postaxial Polydactyly, Type A5 0
                  Postaxial Polydactyly, Type A6 0
                  Postaxial Polydactyly, Type A7 1
                  Postaxial Polydactyly, Type A8 1
                  Postaxial Polydactyly, Type A9 1
                  Postaxial Polydactyly, with Dental and Vertebral Anomalies 0
                  Scalp Defects, Postaxial Polydactyly 0
                  Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia 0
paths to the root