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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 2210408I21Rik RIKEN cDNA 2210408I21 gene ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic postaxial polydactyly ClinVar PMID:30982135 NCBI chr13:77,135,531...77,613,785
Ensembl chr13:77,135,540...77,613,784
JBrowse link
G Bcl11a B cell CLL/lymphoma 11A (zinc finger protein) ISO ClinVar Annotator: match by term: Postaxial polydactyly ClinVar PMID:25741868 NCBI chr11:24,076,564...24,173,558
Ensembl chr11:24,078,056...24,174,123
JBrowse link
Guttmacher syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa13 homeobox A13 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
OMIM
CTD
ClinVar
PMID:8484413 PMID:11968094 PMID:24239177 NCBI chr 6:52,258,853...52,260,880
Ensembl chr 6:52,257,694...52,260,880
JBrowse link
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/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 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:25741868 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
Postaxial Polydactyly, Type A10 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: POLYDACTYLY, POSTAXIAL, TYPE A10 OMIM
ClinVar
PMID:30982135 NCBI chr13:77,135,531...77,613,785
Ensembl chr13:77,135,540...77,613,784
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 chr 5:140,662,553...140,702,403
Ensembl chr 5:140,661,827...140,702,378
JBrowse link
Postaxial Polydactyly, Type A8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli1 GLI-Kruppel family member GLI1 ISO ClinVar Annotator: match by term: POLYDACTYLY, POSTAXIAL, TYPE A8 ClinVar
OMIM
PMID:25741868 PMID:28973407 NCBI chr10:127,329,882...127,341,579
Ensembl chr10:127,329,882...127,341,974
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 4:12,153,142...12,172,023
Ensembl chr 4:12,153,409...12,172,015
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14437
    physical disorder 3084
      polydactyly 116
        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 14437
    Developmental Disease 10751
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9268
        Congenital Abnormalities 5575
          Musculoskeletal Abnormalities 2236
            Congenital Limb Deformities 451
              polydactyly 116
                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