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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:Guttmacher syndrome
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Accession:DOID:0111544 term browser browse the term
Definition:A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in HOXA13 on chromosome 7p15.2. (DO)
Synonyms:exact_synonym: autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias;   preaxial deficiency, postaxial polydactyly and hypospadias;   preaxial deficiency-postaxial polydactyly-hypospadias syndrome
 primary_id: MESH:C538278
 alt_id: OMIM:176305
 xref: GARD:4470;   ORDO:2957
For additional species annotation, visit the Alliance of Genome Resources.


GViewer not supported for chinchilla.
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Guttmacher syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa13 homeobox A13 ISO OMIM NCBI chrNW_004955410:28,887,952...28,893,515
Ensembl chrNW_004955410:28,890,171...28,893,515
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12691
    syndrome 6725
      Guttmacher syndrome 1
Path 2
Term Annotations click to browse term
  disease 12691
    Developmental Disease 9630
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8375
        Congenital Abnormalities 5110
          Musculoskeletal Abnormalities 2126
            Congenital Limb Deformities 428
              polydactyly 116
                Postaxial Polydactyly 12
                  Guttmacher syndrome 1
paths to the root