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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Rare genetic bone disease
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Accession:EFO:Orphanet:183524 term browser browse the term
Synonyms:external_ontology: has_disease_location EFO:UBERON:0001474


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Term paths to the root
Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            Rare genetic bone disease 0
              Cloverleaf skull - asphyxiating thoracic dysplasia 0
              Cloverleaf skull - multiple congenital anomalies 0
              Craniofrontonasal dysplasia - Poland anomaly 0
              Craniosynostosis - Dandy-Walker malformation - hydrocephalus 0
              Craniosynostosis - cataract 0
              Craniosynostosis - fibular aplasia 0
              Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis 0
              Craniosynostosis - intracranial calcifications 0
              Craniosynostosis, Boston type 0
              Crouzon disease 0
              Crouzon syndrome - acanthosis nigricans 0
              Cutis gyrata - acanthosis nigricans - craniosynostosis 0
              Dysostosis of genetic origin with limb anomaly as a major feature + 0
              Dysostosis with predominant vertebral and costal involvement + 0
              Familial Scheuermann disease 0
              Familial chondromalacia patellae 0
              Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome 0
              Holoprosencephaly - craniosynostosis 0
              Hyaluronidase deficiency 0
              Hypertelorism, Teebi type 0
              Hypertrichotic osteochondrodysplasia, Cantu type 0
              Inverse Klippel-Trénaunay syndrome 0
              Klippel-Trénaunay syndrome 0
              Mandibulofacial dysostosis - macroblepharon - macrostomia 0
              Multiple sulfatase deficiency 0
              Primary bone dysplasia + 0
              Primary intraosseous vascular malformation 0
              Rare bone disease related to a common gene or pathway defect + 0
              Rare hereditary disease with avascular necrosis + 0
              Trigonocephaly - broad thumbs 0
              Trigonocephaly - short stature - developmental delay 0
              X-linked intellectual disability - plagiocephaly 0
              fgfr2 related craniosynostosis 0
              metopic craniosynostosis 0
              sialidosis type II + 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
                Rare genetic bone disease 0
                  Cloverleaf skull - asphyxiating thoracic dysplasia 0
                  Cloverleaf skull - multiple congenital anomalies 0
                  Craniofrontonasal dysplasia - Poland anomaly 0
                  Craniosynostosis - Dandy-Walker malformation - hydrocephalus 0
                  Craniosynostosis - cataract 0
                  Craniosynostosis - fibular aplasia 0
                  Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis 0
                  Craniosynostosis - intracranial calcifications 0
                  Craniosynostosis, Boston type 0
                  Crouzon disease 0
                  Crouzon syndrome - acanthosis nigricans 0
                  Cutis gyrata - acanthosis nigricans - craniosynostosis 0
                  Dysostosis of genetic origin with limb anomaly as a major feature + 0
                  Dysostosis with predominant vertebral and costal involvement + 0
                  Familial Scheuermann disease 0
                  Familial chondromalacia patellae 0
                  Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome 0
                  Holoprosencephaly - craniosynostosis 0
                  Hyaluronidase deficiency 0
                  Hypertelorism, Teebi type 0
                  Hypertrichotic osteochondrodysplasia, Cantu type 0
                  Inverse Klippel-Trénaunay syndrome 0
                  Klippel-Trénaunay syndrome 0
                  Mandibulofacial dysostosis - macroblepharon - macrostomia 0
                  Multiple sulfatase deficiency 0
                  Primary bone dysplasia + 0
                  Primary intraosseous vascular malformation 0
                  Rare bone disease related to a common gene or pathway defect + 0
                  Rare hereditary disease with avascular necrosis + 0
                  Trigonocephaly - broad thumbs 0
                  Trigonocephaly - short stature - developmental delay 0
                  X-linked intellectual disability - plagiocephaly 0
                  fgfr2 related craniosynostosis 0
                  metopic craniosynostosis 0
                  sialidosis type II + 0
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