OBO ID: DOID:0080721
Term Name: calvarial doughnut lesions with bone fragility Search Ontology:
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:
Ontology: Human Disease   ( DOID:0080721 )
Relationships
is a type of:
OTHER calvarial doughnut lesions with bone fragility PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SGMS2 Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia 126550
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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