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Term:Borjeson-Forssman-Lehmann syndrome
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Accession:DOID:0050681 term browser browse the term
Definition:An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. (DO)
Synonyms:exact_synonym: BFLS;   BORJ;   Borjeson syndrome;   MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS;   MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORJESON-FORSSMAN-LEHMANN TYPE;   MRXSBFL;   intellectual deficiency-epilepsy-endocrine disorders syndrome;   mental deficiency, epilepsy and endocrine disorders;   mental retardation, epilepsy, and endocrine disorder
 primary_id: MESH:C536575
 alt_id: OMIM:301900;   RDO:0002199
 xref: GARD:936;   ORDO:127
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Borjeson-Forssman-Lehmann syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phf6 PHD finger protein 6 JBrowse link X 158,698,353 158,739,855 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Borjeson-Forssman-Lehmann syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    syndromic intellectual disability 211
                      Mental Retardation, X-Linked 198
                        syndromic X-linked intellectual disability 45
                          Borjeson-Forssman-Lehmann syndrome 1
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