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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 I
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Accession:DOID:9004978 term browser browse the term
Definition:Preaxial polydactyly, i.e., polydactyly on the radial side of the hand, is a heterogeneous category. Four types are: (1) thumb polydactyly, (2) polydactyly of triphalangeal thumb, (3) polydactyly of index finger, and (4) polysyndactyly. Preaxial polydactyly I (PPD1), 'thumb polydactyly,' involves duplication of 1 or more of the skeletal components of a biphalangeal thumb. Severity varies from mere broadening of the distal phalanx with slight bifurcation at the tip to full duplication of the thumb including the metacarpals. This type is the most frequent form of polydactyly in many populations. PPD1 is caused by homozygous mutation in the GLI1 gene on chromosome 12q13. (OMIM)
Synonyms:exact_synonym: POLYDACTYLY, PREAXIAL;   PPD1;   Thumb polydactyly;   preaxial polydactyly type 1
 narrow_synonym: Fromont Anomaly
 broad_synonym: THENAR HYPOPLASIA
 primary_id: MESH:C536332
 alt_id: OMIM:174400
For additional species annotation, visit the Alliance of Genome Resources.


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Preaxial Polydactyly I 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, preaxial I OMIM
ClinVar
PMID:25741868 PMID:30620395 NCBI chr 7:70,620,794...70,633,171
Ensembl chr 7:70,620,766...70,630,338
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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 I 1
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 I 1
paths to the root