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Term:Simpson-Golabi-Behmel syndrome type 2
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Accession:DOID:0080342 term browser browse the term
Definition:A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems. (DO)
Synonyms:exact_synonym: SGBS2
 primary_id: MESH:C564567
 alt_id: OMIM:300209
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Simpson-Golabi-Behmel syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:7240710

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Term Annotations click to browse term
  disease 15503
    syndrome 5771
      Simpson-Golabi-Behmel syndrome type 2 1
Path 2
Term Annotations click to browse term
  disease 15503
    Developmental Diseases 8880
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7677
        genetic disease 7166
          monogenic disease 4811
            X-linked monogenic disease 856
              X-linked recessive disease 212
                Simpson-Golabi-Behmel syndrome type 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.