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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 the HOXA13 gene 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


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias | ClinVar Annotator: match by term: Guttmacher syndrome		 OMIM
CTD
ClinVar		 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Guttmacher syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        Congenital Abnormalities 7583
          Musculoskeletal Abnormalities 3302
            Congenital Limb Deformities 1022
              polydactyly 367
                Postaxial Polydactyly 16
                  Guttmacher syndrome 1
paths to the root