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ONTOLOGY REPORT - ANNOTATIONS


Term:hand-foot-genital syndrome
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Accession:DOID:0060739 term browser browse the term
Definition:A autosomal dominant disease characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has material basis in heterozygous mutation in the HOXA13 gene on chromosome 7p15. (DO)
Synonyms:exact_synonym: HFG;   HFG syndrome;   HFGS;   HFU;   HFU syndrome;   hand-foot-uterus syndrome
 primary_id: MESH:C535627
 alt_id: OMIM:140000;   RDO:0000856
 xref: GARD:2594;   ORDO:2438
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hand-foot-genital syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa13 homeo box A13 RGD:1599526
RGD:7240710
RGD:8554872
RGD:11554173

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  disease 15590
    syndrome 5131
      hand-foot-genital syndrome 1
Path 2
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  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        Congenital Abnormalities 3574
          Musculoskeletal Abnormalities 1294
            Congenital Limb Deformities 409
              Upper Extremity Deformities, Congenital 80
                Congenital Hand Deformities 65
                  hand-foot-genital 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.