OBO ID: DOID:0060886
Term Name: osteopathia striata with cranial sclerosis Search Ontology:
Synonyms:
  • hyperostosis generalisata with striations
  • Robinow-Unger syndrome
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
References:
Ontology: Human Disease   ( DOID:0060886 )
Relationships
is a type of:
OTHER osteopathia striata with cranial sclerosis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AMER1 Osteopathia striata with cranial sclerosis 300373
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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