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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:craniofrontonasal dysplasia-Poland anomaly syndrome
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Accession:EFO:MONDO:0015464 term browser browse the term
Definition:Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far.
Synonyms:exact_synonym: Webster-Deming syndrome
 alt_id: MONDO:0015464
 xref: GARD:428;   MEDGEN:929528;   ORDO:1521;   SCTID:720757001;   UMLS:C4303859


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Path 1
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          breast disease 0
            syndromic breast hypoplasia/aplasia 0
              craniofrontonasal dysplasia-Poland anomaly 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
                  dysostosis 0
                    frontonasal dysplasia 0
                      craniofrontonasal dysplasia-Poland anomaly syndrome 0
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