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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 chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
JBrowse link
G RGD1560883 similar to KIAA0825 protein ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic postaxial polydactyly ClinVar PMID:30982135 NCBI chr 2:4,195,871...4,755,065
Ensembl chr 2:4,195,917...4,754,318
JBrowse link
Guttmacher syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa13 homeo box A13 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:176305
OMIM
CTD
ClinVar
PMID:8484413 PMID:11968094 PMID:24239177 NCBI chr 4:82,313,383...82,315,550
Ensembl chr 4:82,228,017...82,229,397
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 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/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
ClinVar Annotator: match by term: Postaxial polydactyly type A1
OMIM
ClinVar
PMID:9354785 PMID:10441570 PMID:18000979 PMID:22428873 PMID:25741868 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:25741868 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
Postaxial Polydactyly, Type A10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RGD1560883 similar to KIAA0825 protein ISO ClinVar Annotator: match by term: POLYDACTYLY, POSTAXIAL, TYPE A10 OMIM
ClinVar
PMID:30982135 NCBI chr 2:4,195,871...4,755,065
Ensembl chr 2:4,195,917...4,754,318
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 ClinVar Annotator: match by term: POLYDACTYLY, POSTAXIAL, TYPE A7
ClinVar Annotator: match by term: Polydactyly, postaxial, type a7
ClinVar
OMIM
PMID:25741868 PMID:28488682 PMID:31549751 NCBI chr12:16,030,607...16,069,872
Ensembl chr12:15,857,805...16,067,924
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 ClinVar Annotator: match by term: POLYDACTYLY, POSTAXIAL, TYPE A8 ClinVar
OMIM
PMID:25741868 PMID:28973407 NCBI chr 7:70,620,794...70,633,171
Ensembl chr 7:70,620,766...70,630,338
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 ClinVar Annotator: match by term: POLYDACTYLY, POSTAXIAL, TYPE A9 ClinVar
OMIM
PMID:30395363 NCBI chr 5:25,732,457...25,750,953
Ensembl chr 5:25,732,644...25,750,826
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    physical disorder 3070
      polydactyly 120
        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 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        Congenital Abnormalities 5555
          Musculoskeletal Abnormalities 2219
            Congenital Limb Deformities 455
              polydactyly 120
                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