ONTOLOGY REPORT - ANNOTATIONS


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
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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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Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        Congenital Abnormalities 3149
          Multiple Abnormalities 1275
            Simpson-Golabi-Behmel syndrome type 2 1
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          monogenic disease 2859
            X-linked monogenic disease 490
              X-linked recessive disease 166
                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.