hypertension and brachydactyly syndrome

Summary

DOID:0111247 - hypertension and brachydactyly syndrome

Disease Ontology 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.

Synonyms: Bilginturan brachydactyly, Bilginturan syndrome, brachydactyly with hypertension, HTNB, type E brachydactyly with short stature and hypertension

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pde3a

MIM:

MIM:112410 - HYPERTENSION AND BRACHYDACTYLY SYNDROME; HTNB

MIM:112410 - HYPERTENSION AND BRACHYDACTYLY SYNDROME; HTNB

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), syndrome (is_a)