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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:Barber-Say syndrome
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Accession:DOID:0060549 term browser browse the term
Definition:A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. (DO)
Synonyms:exact_synonym: BBRSAY;   BSS;   hypertrichosis, atrophic skin, ectropion, and macrostomia
 primary_id: MESH:C537908
 alt_id: OMIM:209885
 xref: GARD:819;   ORDO:1231


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Barber-Say syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Barber-Say syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1867254 PMID:8368246 PMID:9674915 PMID:16650233 PMID:19760652 More... NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10886
      Barber-Say syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13342
      Signs and Symptoms 10818
        Neurologic Manifestations 10052
          sensory system disease 6960
            mouth disease 1018
              Mouth Abnormalities 170
                Macrostomia 2
                  Barber-Say syndrome 1
paths to the root