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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
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Accession:EFO:MONDO:0017196 term browser browse the term
Definition:Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents.
Synonyms:exact_synonym: Al Gazali-Nair syndrome
 related_synonym: Al Gazali Sabrinathan Nair syndrome;   osteogenesis imperfecta retinopathy seizures intellectual deficit
 alt_id: MONDO:0017196
 xref: GARD:587;   MEDGEN:928493;   MESH:C535617;   ORDO:2773;   SCTID:722110003;   UMLS:C4302824
 see_also: https://rarediseases.info.nih.gov/diseases/587/al-gazali-sabrinathan-nair-syndrome" xsd:anyURI {source="GARD:0000587


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Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            osteogenesis imperfecta 0
              osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          musculoskeletal system disease 0
            skeletal system disease 0
              bone disease 0
                bone development disease 0
                  osteochondrodysplasia 0
                    osteogenesis imperfecta 0
                      osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome 0
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