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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 X-linked recessive disease 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: DOID:9009026;   OMIM:300209;   RDO:0013487
For additional species annotation, visit the Alliance of Genome Resources.


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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
RGD:8554872

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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Multiple Abnormalities 1267
            Simpson-Golabi-Behmel syndrome type 2 1
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            X-linked monogenic disease 490
              X-linked recessive disease 162
                Simpson-Golabi-Behmel syndrome type 2 1
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