| Metadata | |
|---|---|
| ID | DOID:0111247 |
| Name | hypertension and brachydactyly syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/4774535, https://www.ncbi.nlm.nih.gov/pubmed/25961942 |
| Xrefs |
SNOMEDCT_US_2023_03_01:720568003 |
| Subsets |
DO_rare_slim |
| Synonyms |
Bilginturan brachydactyly [EXACT] Bilginturan syndrome [EXACT] brachydactyly with hypertension [EXACT] HTNB [EXACT] type E brachydactyly with short stature and hypertension [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |