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ONTOLOGY REPORT - ANNOTATIONS


Term:osteopathia striata with cranial sclerosis
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Accession:DOID:0060886 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Hyperostosis Generalisata with Striations;   OSCS;   Robinow-Unger syndrome;   osteopathia striata cranial sclerosis
 primary_id: MESH:C536053;   RDO:0001467
 alt_id: OMIM:300373
 xref: ORDO:2780
For additional species annotation, visit the Alliance of Genome Resources.


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osteopathia striata with cranial sclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amer1 APC membrane recruitment protein 1 JBrowse link X 64,686,620 64,702,504 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      bone development disease 981
        osteochondrodysplasia 406
          osteosclerosis 44
            osteopathia striata with cranial sclerosis 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      musculoskeletal system disease 4256
        connective tissue disease 2763
          bone disease 2212
            bone development disease 981
              osteochondrodysplasia 406
                osteosclerosis 44
                  osteopathia striata with cranial sclerosis 1
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