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ONTOLOGY REPORT - ANNOTATIONS


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
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Guttmacher syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa13 homeo box A13 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    syndrome 5379
      Guttmacher syndrome 1
Path 2
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  disease 15502
    Developmental Diseases 8872
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7669
        Congenital Abnormalities 3810
          Musculoskeletal Abnormalities 1345
            Congenital Limb Deformities 415
              polydactyly 116
                Postaxial Polydactyly 15
                  Guttmacher syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.