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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.


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Guttmacher syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa13 homeo box A13 ISO ClinVar Annotator: match by OMIM:176305
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8484413 PMID:11968094 PMID:24239177 NCBI chr 4:82,313,383...82,315,550
Ensembl chr 4:82,228,017...82,229,397
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16977
    syndrome 7744
      Guttmacher syndrome 1
Path 2
Term Annotations click to browse term
  disease 16977
    Developmental Disease 10670
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9142
        Congenital Abnormalities 5240
          Musculoskeletal Abnormalities 2162
            Congenital Limb Deformities 454
              polydactyly 120
                Postaxial Polydactyly 12
                  Guttmacher syndrome 1
paths to the root