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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 5215
      Borjeson-Forssman-Lehmann syndrome 1
Path 2
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  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        central nervous system disease 8117
          brain disease 7586
            disease of mental health 5530
              developmental disorder of mental health 2719
                specific developmental disorder 1891
                  intellectual disability 1713
                    syndromic intellectual disability 677
                      Mental Retardation, X-Linked 659
                        syndromic X-linked intellectual disability 585
                          Borjeson-Forssman-Lehmann syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.