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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
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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 | ClinVar Annotator: match by term: MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS | ClinVar Annotator: match by term: Mental deficiency, epilepsy and endocrine disorders OMIM
ClinVar		 PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15994862 More... NCBI chr  X:110,249,010...110,311,503
Ensembl chr  X:110,249,010...110,303,017 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      Borjeson-Forssman-Lehmann syndrome 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        central nervous system disease 11610
          brain disease 10899
            disease of mental health 7880
              developmental disorder of mental health 5351
                specific developmental disorder 4367
                  intellectual disability 4177
                    X-Linked Intellectual Developmental Disorders 792
                      syndromic X-linked intellectual disability 613
                        Borjeson-Forssman-Lehmann syndrome 1
paths to the root