Search Ontology:
Human Disease
osteopathia striata with cranial sclerosis
- Term ID
- DOID:0060886
- Synonyms
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- hyperostosis generalisata with striations
- Robinow-Unger syndrome
- 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. https://www.ncbi.nlm.nih.gov/pubmed/19079258
- References
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- MESH:C536053
- MIM:300373
- ORDO:2780
- SNOMEDCT_US_2023_03_01:254129003
- UMLS_CUI:C0432268
- Ontology
- Human Disease ( DOID:0060886 )
- is a type of
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Genes Involved
Zebrafish Models