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url:https\\://www.ncbi.nlm.nih.gov/pubmed/4774535]","descendants":[],"doid":"DOID:0111247","name":"hypertension and brachydactyly syndrome","parents":["DOID:0050736","DOID:225"],"synonyms":{"exact":["Bilginturan brachydactyly","Bilginturan syndrome","brachydactyly with hypertension","HTNB","type E brachydactyly with short stature and hypertension"]},"xrefs":{"gard":"967","mesh":"C537095","mim":"112410","ordo":"1276","snomedct_us_2025_09_01":"720568003","umls_cui":"C1862170"}},"hpo":[{"disease_name":"Hypertension and brachydactyly syndrome","inheritance":{"biocuration":[{"date":"2009-02-17","name":"HPO:iea"},{"date":"2023-02-19","name":"HPO:probinson"}],"evidence":"PCS","hpo_id":"HP:0000006","hpo_name":"Autosomal dominant 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- arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50. [Orphanet:1276]","has_material_basis_in_germline_mutation_in":{"http":["http://identifiers.org/hgnc/8778"]},"label":"brachydactyly-arterial hypertension syndrome","mondo":"MONDO:0007211","parents":["MONDO:0002254","MONDO:0018234","MONDO:0019054","MONDO:0021004"],"synonym":{"exact":["Bilginturan brachydactyly","Bilginturan syndrome","brachydactyly type E, with short stature and hypertension"],"related":["brachydactyly type E with short stature and hypertension","HTNB","hypertension and brachydactyly syndrome"]},"xrefs":{"doid":["DOID:0111247"],"gard":["0000967"],"medgen":["349445"],"mesh":["C537095"],"omim":["112410"],"orphanet":["1276"],"sctid":["720568003"],"umls":["C1862170"]}},"original_id":"orphanet:1276","umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"non-preferred":"C537095","preferred":"C537095"},"snomed":{"non-preferred":"720568003"},"umls":"C1862170"}}