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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS


Term:Rare genetic bone development disorder
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Accession:EFO:Orphanet:404584 term browser browse the term
Synonyms:exact_synonym: Rare genetic skeletal development disorder



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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            Rare genetic developmental defect during embryogenesis 0
              Rare genetic bone development disorder 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 chondromalacia patellae 0
                Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome 0
                Holoprosencephaly - craniosynostosis 0
                Hypertelorism, Teebi type 0
                Hypertrichotic osteochondrodysplasia, Cantu type 0
                Mandibulofacial dysostosis - macroblepharon - macrostomia 0
                Primary bone dysplasia + 0
                Trigonocephaly - broad thumbs 0
                Trigonocephaly - short stature - developmental delay 0
                X-linked intellectual disability - plagiocephaly 0
                fgfr2 related craniosynostosis 0
                metopic craniosynostosis 0
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