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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 15619
    Developmental Diseases 8737
      bone development disease 983
        osteochondrodysplasia 408
          osteosclerosis 44
            osteopathia striata with cranial sclerosis 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              osteochondrodysplasia 408
                osteosclerosis 44
                  osteopathia striata with cranial sclerosis 1
paths to the root

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