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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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;   MRXSBFL;   intellectual deficiency-epilepsy-endocrine disorders syndrome;   mental deficiency, epilepsy and endocrine disorders;   mental retardation, epilepsy, and endocrine disorder;   mental retardation, epilepsy, and endocrine disorders;   syndromic X-linked mental retardation, Borjeson-Forssman-Lehmann type
 primary_id: MESH:C536575
 alt_id: OMIM:301900
 xref: GARD:936;   NCI:C157122;   ORDO:127

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Borjeson-Forssman-Lehmann syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phf6 PHD finger protein 6 ISO
ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome
CTD Direct Evidence: marker/mechanism
PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15994862 More... NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    syndrome 10725
      Borjeson-Forssman-Lehmann syndrome 1
Path 2
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      nervous system disease 14001
        central nervous system disease 12351
          brain disease 11585
            disease of mental health 8248
              developmental disorder of mental health 5491
                specific developmental disorder 4447
                  intellectual disability 4252
                    X-Linked Intellectual Developmental Disorders 808
                      syndromic X-linked intellectual disability 619
                        Borjeson-Forssman-Lehmann syndrome 1
paths to the root