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Disease Ontology Browser
osteopathia striata with cranial sclerosis (DOID:0060886)
Synonyms: hyperostosis generalisata with striations; Robinow-Unger syndrome
Alt IDs: OMIM:300373, ICD10CM:Q78.8, MESH:C536053, ORDO:2780, UMLS_CUI:C0432268
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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/13/2017
MGI 6.10
The Jackson Laboratory