| 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 |
SNOMEDCT_US_2023_03_01:254129003 |
| Subsets |
DO_rare_slim |
| Synonyms |
hyperostosis generalisata with striations [EXACT] Robinow-Unger syndrome [EXACT] |
| Parent Relationships |
is_a osteosclerosis |