calvarial doughnut lesions with bone fragility

Term ID

DOID:0080721

Synonyms

Definition

An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483641/

References

• OMIM:126550
• ORDO:85192

Ontology

Human Disease   ( DOID:0080721 )