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Disease Ontology Browser
hypertension and brachydactyly syndrome (DOID:0111247)
Alliance: disease page
Synonyms: Bilginturan brachydactyly; Bilginturan syndrome; brachydactyly with hypertension; HTNB; type E brachydactyly with short stature and hypertension
Alt IDs: OMIM:112410, ORDO:1276, UMLS_CUI:C1862170
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/18/2020
MGI 6.14
The Jackson Laboratory