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Human Disease

osteopathia striata with cranial sclerosis

Term ID
DOID:0060886
Synonyms
  • 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
Ontology
Human Disease   ( DOID:0060886 )
Relationships
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Genes Involved
Zebrafish Models