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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:Birt-Hogg-Dube syndrome
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Accession:DOID:0050676 term browser browse the term
Definition:A skin disease that is characterized by the development of skin papules on the head, face and upper torso, has_material_basis_in heterozygous mutation in the gene encoding folliculin on chromosome 17p11. (DO)
Synonyms:exact_synonym: BHD;   Birt-Hogg-Dubé syndrome;   Hornstein-Birt-Hogg-Dubé syndrome;   Hornstein-Knickenberg syndrome;   fibrofolliculomas with trichodiscomas and acrochordons;   renal cystadenocarcinoma and nodular dermatofibrosis
 primary_id: MESH:D058249
 alt_id: OMIA:001335;   OMIM:135150
 xref: GARD:2322;   NCI:C28244;   ORDO:122
For additional species annotation, visit the Alliance of Genome Resources.



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Birt-Hogg-Dube syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flcn folliculin ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome | ClinVar Annotator: match by term: Birt-Hogg-Dubé Syndrome | ClinVar Annotator: match by term: Fibrofolliculomas with trichodiscomas and acrochordons | ClinVar Annotator: match by term: Hornstein-Knickenberg syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
RGD
PMID:9536098 PMID:12204536 PMID:12471204 PMID:12843323 PMID:14627671 More... RGD:1598946 NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769
JBrowse link
G Pld6 phospholipase D family, member 6 ISO ClinVar Annotator: match by term: Hornstein-Knickenberg syndrome ClinVar PMID:15852235 PMID:28492532 NCBI chr10:44,577,740...44,581,686
Ensembl chr10:44,577,675...44,581,077
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      Birt-Hogg-Dube syndrome 2
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                Birt-Hogg-Dube syndrome 2
paths to the root