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ONTOLOGY REPORT - ANNOTATIONS


Term:hypertension and brachydactyly syndrome
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Accession:DOID:0111247 term browser browse the term
Definition:An autosomal dominant disease characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2. (DO)
Synonyms:exact_synonym: Bilginturan brachydactyly;   Bilginturan syndrome;   Brachydactyly type E with short stature and hypertension;   HTNB;   brachydactyly with hypertension
 primary_id: MESH:C537095
 alt_id: DOID:9001664;   OMIM:112410;   RDO:0002869
 xref: GARD:967;   ORDO:1276
For additional species annotation, visit the Alliance of Genome Resources.


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hypertension and brachydactyly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pde3a phosphodiesterase 3A JBrowse link 4 175,431,904 175,703,844 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      cardiovascular system disease 4277
        vascular disease 3309
          hypertension 1462
            hypertension and brachydactyly syndrome 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              dysostosis 303
                brachydactyly 29
                  hypertension and brachydactyly syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.