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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:Preaxial Polydactyly IV
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Accession:DOID:9008310 term browser browse the term
Definition:Although both preaxial polydactyly and syndactyly are cardinal features of this malformation, it is classified as a form of polydactyly because syndactyly does not occur in the absence of polydactyly, the opposite not being true. On the other hand, polysyndactyly is here classified as a type of syndactyly because polydactyly (of the third or fourth fingers and fifth toes) does not occur in the absence of syndactyly. The thumb shows only the mildest degree of duplication, and syndactyly of various degrees affects fingers 3 and 4. The foot malformation is more constant and consists of duplication of part or all of the first or second toes and syndactyly affects all of the toes, especially the second and third. Some cases of preaxial polydactyly type IV are caused by heterozygous mutation in the GLI3 gene on chromosome 7p14. (OMIM)
Synonyms:exact_synonym: PPD4;   preaxial polydactyly 4;   uncomplicated polysyndactyly
 narrow_synonym: CP1;   CROSSED POLYDACTYLY, TYPE I
 primary_id: MESH:C536333
 alt_id: OMIM:174700
For additional species annotation, visit the Alliance of Genome Resources.


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Preaxial Polydactyly IV term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Preaxial polydactyly 4
DNA:nonsense mutation:exon:p.R290X (C868T) (human)
DNA:nonsense mutation, deletion: :p.R792X (c.C2374T), c.3383delA (human)
OMIM
ClinVar
PMID:6641002 PMID:10441570 PMID:15739154 PMID:15811011 PMID:18435847 PMID:28492532, PMID:15811011, PMID:22903559 RGD:12738221, RGD:12738141 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
JBrowse link
G Zic3 Zic family member 3 ISO RGD PMID:22234993 RGD:12738220 NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    physical disorder 3071
      polydactyly 120
        Preaxial Polydactyly 7
          Preaxial Polydactyly IV 2
Path 2
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        Congenital Abnormalities 5557
          Musculoskeletal Abnormalities 2220
            Congenital Limb Deformities 455
              polydactyly 120
                Preaxial Polydactyly 7
                  Preaxial Polydactyly IV 2
paths to the root