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| Term | osteopathia striata with cranial sclerosis | ID (Ontology) | DOID:0060886 (Human Disease) |
| Definition | An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11. | ||
| Also Known As | "hyperostosis generalisata with striations" ; "Robinow-Unger syndrome" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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bone remodeling disease |__osteosclerosis |__osteopathia striata with cranial sclerosis |
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| Is a | osteosclerosis | ||
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MESH:C536053 MIM:300373 ORDO:2780 SNOMEDCT_US_2023_03_01:254129003 UMLS_CUI:C0432268 |
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