BCARD syndrome

Term ID

DOID:0061197

Synonyms

Definition

A connective tissue disease characterized by bone abnormalities, including low bone mineral density, scoliosis, contractures of the fingers and other joints, prominent knees, and rare pathologic fractures; cataract and other ocular abnormalities, including high myopia, optically empty vitreous, and risk for retinal detachment; risk of arterial rupture due to vascular aneurysm or dissection; and sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the PLOD3 gene on chromosome 7q22. https://pubmed.ncbi.nlm.nih.gov/31129566/

References

• MIM:612394

Ontology

Human Disease   ( DOID:0061197 )