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ONTOLOGY REPORT - ANNOTATIONS


Term:ulnar-mammary syndrome
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Accession:DOID:0060614 term browser browse the term
Definition:A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene. (DO)
Synonyms:exact_synonym: Pallister ulnar-mammary syndrome;   Schinzel syndrome;   UMS;   ulnar-mammary syndrome of Pallister
 primary_id: MESH:C536937
 alt_id: OMIM:181450;   RDO:0002665
 xref: GARD:118;   ORDO:3138
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ulnar-mammary syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbx3 T-box transcription factor 3 JBrowse link 12 42,479,518 42,494,588 RGD:7240710
RGD:8554872
RGD:11554173

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  disease 15590
    syndrome 5131
      ulnar-mammary syndrome 1
Path 2
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  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        genetic disease 6993
          monogenic disease 4551
            autosomal genetic disease 3501
              autosomal dominant disease 2065
                ulnar-mammary 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.