FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hypertension and brachydactyly syndrome ID (Ontology) DOID:0111247 (Human Disease)
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.
Also Known As "Bilginturan brachydactyly" ; "Bilginturan syndrome" ; "brachydactyly with hypertension" (for all, see Synonyms field below)
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 Genes
 hypertension and brachydactyly syndrome       2
 for disease ribbon | hypertension and brachydactyly syndrome       2
 model of | hypertension and brachydactyly syndrome       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                hypertension and brachydactyly syndrome  2 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "Bilginturan brachydactyly" EXACT
    "Bilginturan syndrome" EXACT
    "brachydactyly with hypertension" EXACT
    "HTNB" EXACT OMO:0003012
    "type E brachydactyly with short stature and hypertension" EXACT
Secondary IDs
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GARD:967
MESH:C537095
MIM:112410
ORDO:1276
SNOMEDCT_US_2023_03_01:720568003
UMLS_CUI:C1862170