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Metadata
ID	DOID:0061197
Name	BCARD syndrome
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/
Xrefs	MIM:612394
Parent Relationships	is_a connective tissue disease is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance