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Summary Literature (0)
DOID:0060886 - osteopathia striata with cranial sclerosis

Disease Ontology 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.

Synonyms: hyperostosis generalisata with striations, Robinow-Unger syndrome

Xenbase Genes : amer1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010310 - osteopathia striata with cranial sclerosis

MIM:
MIM:300373 - OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): osteosclerosis (is_a)