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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:hypertension and brachydactyly syndrome
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Accession:DOID:0111247 term browser browse the term
Definition:A syndrome 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;   HTNB;   brachydactyly type E with short stature and hypertension;   brachydactyly with hypertension
 primary_id: MESH:C537095
 alt_id: OMIM:112410
 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde3a phosphodiesterase 3A ISO ClinVar Annotator: match by OMIM:112410
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bilginturan syndrome
OMIM
ClinVar
CTD
PMID:4774535, PMID:25961942 NCBI chr 4:175,431,904...175,703,844
Ensembl chr 4:175,431,904...175,700,238
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      hypertension and brachydactyly syndrome 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          bone disease 3534
            bone development disease 1343
              dysostosis 344
                brachydactyly 37
                  hypertension and brachydactyly syndrome 1
paths to the root

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