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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 syndrome 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
 xref: GARD:2594;   ICD10CM:Q51.2;   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 16022
    syndrome 6143
      hand-foot-genital syndrome 1
Path 2
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  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        Congenital Abnormalities 4509
          Musculoskeletal Abnormalities 1504
            Congenital Limb Deformities 422
              Congenital Upper Extremity Deformities 84
                Congenital Hand Deformities 69
                  hand-foot-genital syndrome 1
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