ONTOLOGY REPORT - ANNOTATIONS


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

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Path 1
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  disease 14875
    syndrome 4220
      Borjeson-Forssman-Lehmann syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    syndromic intellectual disability 211
                      Mental Retardation, X-Linked 198
                        syndromic X-linked intellectual disability 45
                          Borjeson-Forssman-Lehmann syndrome 1
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