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Metadata
ID DOID:0060886
Name osteopathia striata with cranial sclerosis
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
Xrefs

MESH:C536053

OMIM:300373

ORDO:2780

UMLS_CUI:C0432268

Synonyms

hyperostosis generalisata with striations [EXACT]

Robinow-Unger syndrome [EXACT]

Parent Relationships

is_a osteosclerosis

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