OBO ID: DOID:0110938 |
Term Name: | autosomal dominant osteopetrosis 2 | Search Ontology: | |
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Definition: | An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13. (2) | ||
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Ontology: | Human Disease ( DOID:0110938 ) |
OTHER autosomal dominant osteopetrosis 2 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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