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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Craniosynostosis - anal anomalies - porokeratosis
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Accession:EFO:Orphanet:85199 term browser browse the term
Definition:Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).
Comment:"orphanet"
Synonyms:exact_synonym: CAP syndrome;   CDAGS syndrome
 xref: ICD10:Q87.8;   MESH:C536789;   MIM:603116


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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
            Rare genetic developmental defect during embryogenesis 0
              Genetic cranial malformation 0
                Craniosynostosis - anal anomalies - porokeratosis 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
                  Primary bone dysplasia 0
                    Cleidocranial dysplasia and isolated cranial ossification defect 0
                      Craniosynostosis - anal anomalies - porokeratosis 0
paths to the root