DISEASES

Disease-gene associations mined from literature

Human genes for osteopathia striata with cranial sclerosis

Osteopathia striata with cranial sclerosis [DOID:0060886]

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.

Synonyms:  osteopathia striata with cranial sclerosis,  DOID:0060886,  osteopathia striata with cranial sclerosises,  Robinow-Unger syndrome,  hyperostosis generalisata with striations ...