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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: MIM:PS174200



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Postaxial Polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl11a BCL11 transcription factor A ISO ClinVar Annotator: match by term: Postaxial polydactyly ClinVar PMID:25741868 NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
JBrowse link
G Efcab7 EF-hand calcium binding domain 7 ISO ClinVar Annotator: match by term: Postaxial polydactyly ClinVar PMID:25741868 NCBI chr 5:114,525,403...114,576,130
Ensembl chr 5:114,525,167...114,576,129
JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Postaxial polydactyly ClinVar PMID:10441570 PMID:25741868 PMID:28492532 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
JBrowse link
G Kiaa0825 KIAA0825 homolog ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic postaxial polydactyly ClinVar PMID:30982135 NCBI chr 2:6,874,474...7,437,032
Ensembl chr 2:6,874,539...7,434,521
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Postaxial polydactyly ClinVar PMID:25741868 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
Guttmacher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa13 homeo box A13 ISO ClinVar Annotator: match by term: Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias | ClinVar Annotator: match by term: Guttmacher syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:24239177 PMID:25741868 PMID:28492532 NCBI chr 4:81,358,956...81,361,091
Ensembl chr 4:81,358,956...81,361,091
JBrowse link
Megalencephaly-Polydactyly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Megalencephaly-polydactyly syndrome OMIM
ClinVar
PMID:25741868 PMID:30573562 PMID:37710961 NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
JBrowse link
Polydactyly-Macrocephaly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Max MYC associated factor X susceptibility ISO ClinVar Annotator: match by term: Polydactyly-macrocephaly syndrome ClinVar
OMIM
PMID:27903915 PMID:28492532 PMID:38141607 NCBI chr 6:95,636,859...95,662,204
Ensembl chr 6:95,636,858...95,662,137
JBrowse link
Postaxial Polydactyly, Type A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 ClinVar PMID:9916796 PMID:16199547 PMID:16611712 PMID:18368028 PMID:25285676 More... NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475
JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 ClinVar PMID:17160889 PMID:23591405 PMID:25741868 PMID:28492532 PMID:30614526 NCBI chr 2:120,203,396...120,221,024
Ensembl chr 2:120,203,428...120,219,255
JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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:25741868 PMID:30395363 NCBI chr 5:25,613,993...25,632,440
Ensembl chr 5:25,614,033...25,632,489
JBrowse link
G Gli3 GLI family zinc finger 3 ISO DNA:deletion, duplication, nonsense mutation: :c.1927C>T, c.3855dupC, c.4141delA (human)
DNA:nonsense mutation: :p.K778X (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GLI3-related postaxial polydactyly | ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 | ClinVar Annotator: match by term: Postaxial polydactyly type B | ClinVar Annotator: match by term: Postaxial polydactyly, type A1/B
OMIM
CTD
ClinVar
RGD
PMID:9354785 PMID:10441342 PMID:10441570 PMID:12794692 PMID:15739154 More... RGD:12738211, RGD:12738223 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
JBrowse link
G Iqce IQ motif containing E ISO ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 ClinVar PMID:25741868 PMID:31549751 NCBI chr12:13,943,290...13,982,708
Ensembl chr12:13,943,487...13,982,693
JBrowse link
G Kiaa0825 KIAA0825 homolog ISO ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 ClinVar PMID:30982135 NCBI chr 2:6,874,474...7,437,032
Ensembl chr 2:6,874,539...7,434,521
JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 ClinVar PMID:25741868 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110
JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link
Postaxial Polydactyly, Type A10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kiaa0825 KIAA0825 homolog ISO ClinVar Annotator: match by term: Polydactyly, postaxial, type a10 OMIM
ClinVar
PMID:25741868 PMID:30982135 PMID:32147526 NCBI chr 2:6,874,474...7,437,032
Ensembl chr 2:6,874,539...7,434,521
JBrowse link
Postaxial Polydactyly, Type A7 term browser
Symbol Object Name Qualifiers 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 OMIM
ClinVar
PMID:25741868 PMID:28488682 PMID:31549751 NCBI chr12:13,943,290...13,982,708
Ensembl chr12:13,943,487...13,982,693
JBrowse link
Postaxial Polydactyly, Type A8 term browser
Symbol Object Name Qualifiers 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 OMIM
ClinVar
PMID:25741868 PMID:28973407 NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
JBrowse link
Postaxial Polydactyly, Type A9 term browser
Symbol Object Name Qualifiers 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 OMIM
ClinVar
PMID:25741868 PMID:30395363 NCBI chr 5:25,613,993...25,632,440
Ensembl chr 5:25,614,033...25,632,489
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    physical disorder 4977
      polydactyly 367
        Postaxial Polydactyly 16
          Cortical Blindness, Retardation, and Postaxial Polydactyly 0
          Dandy-Walker Malformation with Postaxial Polydactyly 0
          Guttmacher syndrome 1
          Megalencephaly-Polydactyly Syndrome 1
          Oliver Syndrome 0
          Polydactyly-Macrocephaly Syndrome 1
          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 18976
    Developmental Disease 14386
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13389
        Congenital Abnormalities 7592
          Musculoskeletal Abnormalities 3308
            Congenital Limb Deformities 1023
              polydactyly 367
                Postaxial Polydactyly 16
                  Cortical Blindness, Retardation, and Postaxial Polydactyly 0
                  Dandy-Walker Malformation with Postaxial Polydactyly 0
                  Guttmacher syndrome 1
                  Megalencephaly-Polydactyly Syndrome 1
                  Oliver Syndrome 0
                  Polydactyly-Macrocephaly Syndrome 1
                  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