Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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
go back to main search page
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;   MRXSBFL;   intellectual deficiency-epilepsy-endocrine disorders syndrome;   mental deficiency, epilepsy and endocrine disorders;   mental retardation, epilepsy, and endocrine disorder;   syndromic X-linked mental retardation, Borjeson-Forssman-Lehmann type
 primary_id: MESH:C536575
 alt_id: OMIM:301900
 xref: GARD:936;   NCI:C157122;   ORDO:127
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 OMIM:301900
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome
OMIM
ClinVar
PMID:12415272, PMID:13871358, PMID:15241480, PMID:15466013, PMID:15994862, PMID:18414213, PMID:23906836, PMID:24728327, PMID:25741868, PMID:25741869, PMID:27633282, PMID:28492532 NCBI chr  X:158,698,353...158,739,855
Ensembl chr  X:158,698,356...158,739,838
Ensembl chr  X:158,698,356...158,739,838
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Borjeson-Forssman-Lehmann syndrome 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              developmental disorder of mental health 3163
                specific developmental disorder 2343
                  intellectual disability 2166
                    syndromic intellectual disability 687
                      Mental Retardation, X-Linked 664
                        syndromic X-linked intellectual disability 587
                          Borjeson-Forssman-Lehmann syndrome 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.