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ONTOLOGY REPORT - ANNOTATIONS


Term:SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
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Accession:DOID:9002620 term browser browse the term
Definition:In this syndrome short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. (OMIM)
Synonyms:exact_synonym: SSMED
 primary_id: OMIM:616541;   RDO:9001550
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SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xrcc4 X-ray repair cross complementing 4 JBrowse link 2 18,674,496 18,927,463 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      endocrine system disease 4810
        SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 1
Path 2
Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        genetic disease 7051
          monogenic disease 4686
            autosomal genetic disease 3645
              autosomal dominant disease 2156
                complex cortical dysplasia with other brain malformations 488
                  Malformations of Cortical Development, Group I 344
                    microcephaly 216
                      SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.